Variant report

Variant	esv2757233
Chromosome Location	chr7:104758250-105208492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6750)
CpG islands
(count:4948)
Chromatin interactive
region (count:527)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:6750 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:104999428-104999583	K562	blood:	n/a	n/a
2	ARID3A	chr7:104944460-104945017	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:104873284-104873810	K562	blood:	n/a	n/a
4	ARID3A	chr7:105162532-105162842	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:105172276-105172771	K562	blood:	n/a	n/a
6	ARID3A	chr7:105070152-105070549	K562	blood:	n/a	n/a
7	ARID3A	chr7:105042910-105043317	K562	blood:	n/a	n/a
8	ARID3A	chr7:105017364-105017690	K562	blood:	n/a	n/a
9	ARID3A	chr7:104819987-104820013	HepG2	liver:	n/a	n/a
10	ARID3A	chr7:105039651-105040180	K562	blood:	n/a	n/a
11	ARID3A	chr7:105006603-105006770	K562	blood:	n/a	n/a
12	ARID3A	chr7:105172230-105172894	HepG2	liver:	n/a	n/a
13	ARID3A	chr7:104999465-104999651	HepG2	liver:	n/a	n/a
14	ARID3A	chr7:105019839-105020013	K562	blood:	n/a	n/a
15	ARID3A	chr7:105070221-105070610	HepG2	liver:	n/a	n/a
16	ARID3A	chr7:104909404-104910342	K562	blood:	n/a	chr7:104910069-104910085 chr7:104909863-104909879 chr7:104909862-104909878
17	ARID3A	chr7:105080108-105080325	HepG2	liver:	n/a	n/a
18	ARID3A	chr7:104994259-104994459	K562	blood:	n/a	n/a
19	ARID3A	chr7:105015076-105015149	K562	blood:	n/a	n/a
20	ARID3A	chr7:104976462-104976771	HepG2	liver:	n/a	n/a
21	ARID3A	chr7:105042035-105042531	K562	blood:	n/a	n/a
22	ARID3A	chr7:105008783-105009038	K562	blood:	n/a	n/a
23	ARID3A	chr7:104771489-104772167	K562	blood:	n/a	n/a
24	ARID3A	chr7:104976432-104976788	K562	blood:	n/a	n/a
25	ARID3A	chr7:104924529-104924792	K562	blood:	n/a	n/a
26	ARID3A	chr7:105173865-105174045	HepG2	liver:	n/a	n/a
27	ARID3A	chr7:104909503-104909771	HepG2	liver:	n/a	n/a
28	ARID3A	chr7:104972080-104972123	K562	blood:	n/a	n/a
29	ARID3A	chr7:105007981-105008379	HepG2	liver:	n/a	n/a
30	ARID3A	chr7:104897645-104898076	K562	blood:	n/a	n/a
31	ARID3A	chr7:105141763-105141769	K562	blood:	n/a	n/a
32	ARID3A	chr7:105042094-105042482	HepG2	liver:	n/a	n/a
33	ARID3A	chr7:105039898-105040131	HepG2	liver:	n/a	n/a
34	ARID3A	chr7:104999888-105000102	K562	blood:	n/a	n/a
35	ARID3A	chr7:104970982-104971041	K562	blood:	n/a	n/a
36	ARID3A	chr7:105128201-105128752	K562	blood:	n/a	n/a
37	ARID3A	chr7:105162675-105163137	K562	blood:	n/a	n/a
38	ARID3A	chr7:105029792-105030248	HepG2	liver:	n/a	n/a
39	ARID3A	chr7:104819345-104819786	HepG2	liver:	n/a	n/a
40	ARID3A	chr7:105028117-105028318	K562	blood:	n/a	n/a
41	ATF1	chr7:104897219-104897309	K562	blood:	n/a	n/a
42	ATF1	chr7:104865550-104866001	K562	blood:	n/a	n/a
43	ATF1	chr7:105007289-105007410	K562	blood:	n/a	n/a
44	ATF1	chr7:104908668-104908848	K562	blood:	n/a	n/a
45	ATF1	chr7:104902188-104902552	K562	blood:	n/a	n/a
46	ATF1	chr7:104771466-104772161	K562	blood:	n/a	n/a
47	ATF1	chr7:105070205-105070516	K562	blood:	n/a	n/a
48	ATF1	chr7:105128345-105128752	K562	blood:	n/a	n/a
49	ATF1	chr7:104796207-104796341	K562	blood:	n/a	n/a
50	ATF1	chr7:104897712-104898056	K562	blood:	n/a	n/a

(count:4948 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:104897205-104897255	BJ	skin:	n/a
2	chr7:105162600-105162650	BE2_C	brain:	n/a
3	chr7:104865796-104865846	LNCaP	prostate:	n/a
4	chr7:104885108-104885158	AoSMC	blood vessel:	n/a
5	chr7:104859800-104859850	GM12878	blood:	n/a
6	chr7:105030752-105030802	GM06990	blood:	n/a
7	chr7:105026171-105026221	PFSK-1	brain:	n/a
8	chr7:104897205-104897255	BJ	skin:	n/a
9	chr7:105162600-105162650	BE2_C	brain:	n/a
10	chr7:104865796-104865846	LNCaP	prostate:	n/a
11	chr7:104885108-104885158	AoSMC	blood vessel:	n/a
12	chr7:104859800-104859850	GM12878	blood:	n/a
13	chr7:105030752-105030802	GM06990	blood:	n/a
14	chr7:105026171-105026221	PFSK-1	brain:	n/a
15	chr7:104909430-104909480	SAEC	small airway:	n/a
16	chr7:105097168-105097218	HRE	kidney:	n/a
17	chr7:105029385-105029435	NHDF-neo	bronchial:	n/a
18	chr7:104863626-104863676	HL-60	blood:	n/a
19	chr7:105029385-105029435	SK-N-MC	brain:	n/a
20	chr7:105029125-105029175	PANC-1	pancreas:	n/a
21	chr7:105029125-105029175	HCT-116	colon:	n/a
22	chr7:104909815-104909865	Caco-2	colon:	n/a
23	chr7:105128488-105128538	ovcar-3	ovarian:	n/a
24	chr7:105162600-105162650	ECC-1	luminal epithelium:	n/a
25	chr7:104859800-104859850	NHBE	bronchial:	n/a
26	chr7:105162761-105162811	HCM	heart:	n/a
27	chr7:104885375-104885425	Jurkat	blood:	n/a
28	chr7:104885375-104885425	HepG2	liver:	n/a
29	chr7:105162859-105162909	GM19239	blood:	n/a
30	chr7:105029485-105029535	HUVEC	blood vessel:	n/a
31	chr7:105162470-105162520	GM19239	blood:	n/a
32	chr7:104829801-104829851	PFSK-1	brain:	n/a
33	chr7:104829801-104829851	AG10803	skin:	n/a
34	chr7:104892331-104892381	NHBE	bronchial:	n/a
35	chr7:105029492-105029542	PrEC	prostate:	n/a
36	chr7:104863626-104863676	BJ	skin:	n/a
37	chr7:105029125-105029175	ovcar-3	ovarian:	n/a
38	chr7:105097168-105097218	HIPEpiC	eye:	n/a
39	chr7:105030752-105030802	ProgFib	skin:	n/a
40	chr7:104939819-104939869	NHBE	bronchial:	n/a
41	chr7:105027541-105027591	HRE	kidney:	n/a
42	chr7:105030168-105030218	HMEC	breast:	n/a
43	chr7:104758224-104758274	HEEpiC	esophagus:	n/a
44	chr7:105134734-105134784	CMK	blood:	n/a
45	chr7:105162941-105162991	RPTEC	kidney:	n/a
46	chr7:104909815-104909865	PANC-1	pancreas:	n/a
47	chr7:105029895-105029945	MCF10A-Er-Src	breast:	n/a
48	chr7:104758865-104758915	HCT-116	colon:	n/a
49	chr7:105029895-105029945	RPTEC	kidney:	n/a
50	chr7:105029485-105029535	ovcar-3	ovarian:	n/a

(count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr7:105012623..105015003-chr7:105017126..105018970,2	MCF-7	breast:
2	chr7:105126837..105131294-chr7:105131811..105135446,3	K562	blood:
3	chr7:104924058..104925048-chr7:104956656..104957758,5	MCF-7	breast:
4	chr5:10249794..10250737-chr7:105161803..105162758,2	Hela-S3	cervix:
5	chr7:104965775..104968018-chr7:104970482..104972338,2	MCF-7	breast:
6	chr7:105039956..105042512-chr7:105104408..105106506,2	K562	blood:
7	chr7:104858335..104861372-chr7:104862250..104865906,3	MCF-7	breast:
8	chr7:104841881..104843382-chr7:104845668..104848186,2	MCF-7	breast:
9	chr7:104622804..104624627-chr7:105113661..105116251,2	K562	blood:
10	chr7:105009408..105012962-chr7:105018316..105021525,4	K562	blood:
11	chr17:41465807..41466363-chr7:105162224..105162878,2	NB4	blood:
12	chr7:104887620..104890465-chr7:104961186..104963915,2	MCF-7	breast:
13	chr7:104873668..104875334-chr7:104875685..104877257,2	MCF-7	breast:
14	chr7:104909811..104911853-chr7:104934398..104937099,2	K562	blood:
15	chr7:104652625..104654760-chr7:105154090..105155879,2	K562	blood:
16	chr7:105140985..105143756-chr7:105161298..105163196,2	K562	blood:
17	chr7:105110346..105111937-chr7:105127717..105129867,2	K562	blood:
18	chr7:105038386..105041784-chr7:105078829..105081619,3	MCF-7	breast:
19	chr7:104801800..104804505-chr7:104876427..104879424,2	K562	blood:
20	chr7:105148472..105150405-chr7:105160556..105162918,2	MCF-7	breast:
21	chr7:104867894..104871932-chr7:104875141..104878987,5	K562	blood:
22	chr14:20937110..20938110-chr7:105172278..105173069,2	Hela-S3	cervix:
23	chr7:105161183..105163106-chr7:105195690..105197780,2	MCF-7	breast:
24	chr7:104869735..104872219-chr7:104880789..104883644,2	MCF-7	breast:
25	chr7:105192153..105195079-chr7:105203440..105205877,2	K562	blood:
26	chr7:105029590..105031238-chr7:105038445..105041248,2	MCF-7	breast:
27	chr7:105160846..105164326-chr7:105166102..105168555,5	MCF-7	breast:
28	chr7:104757007..104759673-chr7:105027481..105029991,2	MCF-7	breast:
29	chr7:105148472..105150405-chr7:105160556..105162918,2	MCF-7	breast:
30	chr7:105126748..105128626-chr7:105155718..105158086,2	K562	blood:
31	chr7:105160687..105164718-chr7:105170642..105174239,14	MCF-7	breast:
32	chr7:104653522..104655991-chr7:105172010..105174113,2	MCF-7	breast:
33	chr7:105164878..105167399-chrX:150160313..150162804,2	MCF-7	breast:
34	chr7:105171193..105173393-chr7:105516904..105519168,2	K562	blood:
35	chr7:104772977..104775390-chr7:105160456..105162601,2	K562	blood:
36	chr7:104836679..104840470-chr7:104840565..104844132,5	MCF-7	breast:
37	chr7:104998328..105001969-chr7:105010062..105013711,3	K562	blood:
38	chr7:104850289..104852047-chr7:104854189..104856772,3	MCF-7	breast:
39	chr7:104970954..104972610-chr7:104976907..104979036,2	K562	blood:
40	chr7:104994593..104996936-chr7:105006253..105008097,2	K562	blood:
41	chr7:104879198..104880930-chr7:104881831..104883810,3	K562	blood:
42	chr7:104890079..104892213-chr7:104894291..104897029,3	K562	blood:
43	chr7:105078529..105081334-chr7:105089630..105092260,2	MCF-7	breast:
44	chr7:104652025..104655487-chr7:105171171..105176319,6	K562	blood:
45	chr7:104893974..104896006-chr7:104900694..104903454,2	K562	blood:
46	chr7:105012234..105014245-chr7:105022510..105026066,3	K562	blood:
47	chr7:105019911..105021910-chr7:105024677..105026313,2	K562	blood:
48	chr7:104924217..104925131-chr7:104956599..104958078,10	MCF-7	breast:
49	chr19:55628556..55629065-chr7:105162615..105163265,2	Hela-S3	cervix:
50	chr7:105028707..105032086-chr7:105067490..105070575,3	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MLL5-4	chr7:104830195-104830261	NONHSAT122612
2	lnc-SRPK2-5	chr7:105029095-105029149	NONHSAT122614
3	lnc-MLL5-4	chr7:104829637-104829934	NONHSAT122612
4	lnc-SRPK2-5	chr7:104909253-104909316	NONHSAT122614
5	lnc-SRPK2-5	chr7:104844170-104844232	NONHSAT122614
6	lnc-MLL5-1	chr7:104946699-104947089	ENSG00000242154.1
7	lnc-MLL5-6	chr7:104941969-104942533	NONHSAT122616
8	lnc-CDHR3-5	chr7:105182855-105183003	NONHSAT122624
9	lnc-RINT1-1	chr7:105208142-105208836	NONHSAT122625
10	lnc-MLL5-5	chr7:104845047-104845306	NONHSAT122615
11	lnc-PUS7-1	chr7:105171944-105171973	NONHSAT122623
12	lnc-PUS7-1	chr7:105170677-105170904	NONHSAT122623
13	lnc-SRPK2-5	chr7:105029691-105029837	NONHSAT122614
14	lnc-CDHR3-5	chr7:105182048-105182302	NONHSAT122624
15	lnc-MLL5-1	chr7:104944724-104944878	ENSG00000242154.1
16	lnc-RINT1-2	chr7:105170656-105171118	NONHSAT122622

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PUS7	hsa-miR-155-5p	chr7:105097684-105097705
2	PUS7	hsa-miR-32-5p	chr7:105098074-105098095

Variant related genes	Relation type
ENSG00000271482	TF binding region
ENSG00000213361	TF binding region
ENSG00000270764	TF binding region
ENSG00000272604	TF binding region
RINT1	TF binding region
RWDD4P1	TF binding region
RNU6-1322P	TF binding region
ENSG00000223886	TF binding region
PUS7	TF binding region
ENSG00000242154	TF binding region
SRPK2	TF binding region
ENSG00000271482	CpG island
ENSG00000213361	CpG island
ENSG00000270764	CpG island
ENSG00000272604	CpG island
RINT1	CpG island
RWDD4P1	CpG island
RNU6-1322P	CpG island
ENSG00000223886	CpG island
PUS7	CpG island
ENSG00000242154	CpG island
SRPK2	CpG island
ENSG00000091127	chromatin interactions
ENSG00000233797	chromatin interactions
ENSG00000128536	chromatin interactions
ENSG00000143303	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000244490	chromatin interactions
ENSG00000201179	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000237310	chromatin interactions
ENSG00000185055	chromatin interactions
ENSG00000213361	chromatin interactions
ENSG00000135250	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000072210	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000223473	chromatin interactions
ENSG00000230508	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000080298	chromatin interactions
ENSG00000174851	chromatin interactions
ENSG00000223886	chromatin interactions
ENSG00000006125	chromatin interactions
ENSG00000239569	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000135249	chromatin interactions
ENSG00000198805	chromatin interactions
ENSG00000162757	chromatin interactions
ENSG00000231167	chromatin interactions
ENSG00000271482	chromatin interactions
ENSG00000125503	chromatin interactions
ENSG00000143319	chromatin interactions
ENSG00000014123	chromatin interactions
ENSG00000005483	chromatin interactions
ENSG00000160999	chromatin interactions
ENSG00000146776	chromatin interactions
ENSG00000272604	chromatin interactions
ENSG00000242154	chromatin interactions
ENSG00000270764	chromatin interactions

Extended variants
information (count: 17617 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:17617 , 50 per page) page: 1 2 3 4 5 6 7 ... 353

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6968355	chr7:104758250-104758251	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	disease
2	rs193085999	chr7:104758254-104758255	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs370358916	chr7:104758294-104758295	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs376014792	chr7:104758307-104758308	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs1050430	chr7:104758311-104758312	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs183444710	chr7:104758312-104758313	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs552200816	chr7:104758371-104758372	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs375485368	chr7:104758402-104758403	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs143420285	chr7:104758420-104758421	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs368616218	chr7:104758466-104758467	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs528326989	chr7:104758494-104758495	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs372344230	chr7:104758499-104758500	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548389148	chr7:104758535-104758536	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs568390917	chr7:104758536-104758537	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs139140254	chr7:104758557-104758558	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs551009406	chr7:104758580-104758581	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs560394368	chr7:104758667-104758668	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs144326898	chr7:104758714-104758715	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs187297251	chr7:104758719-104758720	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs573241890	chr7:104758732-104758733	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs535682803	chr7:104758745-104758746	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs191941983	chr7:104758756-104758757	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs12111884	chr7:104758776-104758777	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs146091792	chr7:104758841-104758842	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs140045301	chr7:104758865-104758866	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs79902071	chr7:104758912-104758913	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs184411900	chr7:104758951-104758952	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs559430646	chr7:104759041-104759042	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs189379770	chr7:104759045-104759046	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs542066572	chr7:104759052-104759053	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs192929518	chr7:104759159-104759160	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs534284852	chr7:104759205-104759206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs143600820	chr7:104759217-104759218	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs117311277	chr7:104759324-104759325	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs184301422	chr7:104759341-104759342	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs117769011	chr7:104759417-104759418	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs546657037	chr7:104759455-104759456	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs566979041	chr7:104759492-104759493	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs535524497	chr7:104759531-104759532	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs145682424	chr7:104759556-104759557	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs569059447	chr7:104759563-104759564	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs538043555	chr7:104759645-104759646	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs558468585	chr7:104759672-104759673	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs541599178	chr7:104759683-104759684	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs200034154	chr7:104759712-104759713	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs370799174	chr7:104759714-104759715	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs559052334	chr7:104759734-104759735	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs532883468	chr7:104759751-104759752	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs375445502	chr7:104759767-104759768	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs545810517	chr7:104759774-104759775	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Myxofibrosarcoma	20639860	CNVD
Chordoma	21215367	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:11581 , 50 per page) page: 1 2 3 4 5 6 7 ... 232

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
8	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:104712400-104758800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:104727800-104759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:104727800-104759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:104727800-104760400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:104728000-104760200	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr7:104728200-104758400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:104728200-104758400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:104728400-104758400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:104728400-104758400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:104737800-104758800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:104738600-104758400	Strong transcription	Fetal Lung	lung
21	chr7:104738800-104760200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:104739000-104759200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr7:104740000-104758400	Strong transcription	NHDF-Ad	bronchial
24	chr7:104740200-104759000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:104740200-104759400	Strong transcription	Primary B cells from cord blood	blood
26	chr7:104740400-104759200	Strong transcription	Primary T cells from cord blood	blood
27	chr7:104740400-104787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:104740800-104758400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:104740800-104760200	Strong transcription	HMEC	breast
30	chr7:104741600-104758600	Strong transcription	Placenta	Placenta
31	chr7:104742200-104759800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:104742400-104760200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:104742800-104758400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:104743800-104758600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:104743800-104758600	Strong transcription	GM12878-XiMat	blood
36	chr7:104745200-104758600	Strong transcription	Primary hematopoietic stem cells	blood
37	chr7:104750200-104777000	Weak transcription	Right Atrium	heart
38	chr7:104752800-104759400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr7:104752800-104763200	Weak transcription	Fetal Heart	heart
40	chr7:104752800-104807400	Weak transcription	Fetal Brain Male	brain
41	chr7:104753200-104758400	Strong transcription	Colon Smooth Muscle	Colon
42	chr7:104753200-104758800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:104753200-104760800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:104753600-104759000	Strong transcription	Brain Anterior Caudate	brain
45	chr7:104753600-104759600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:104753600-104759800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:104753600-104768000	Weak transcription	Psoas Muscle	Psoas
48	chr7:104753800-104759000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:104753800-104759000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:104753800-104759000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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