Variant report

Variant	nsv1003205
Chromosome Location	chr2:54220049-54700843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5532)
CpG islands
(count:3731)
Chromatin interactive
region (count:238)
LncRNA
region (count:49)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5532 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54330782-54331178	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:54557555-54557779	K562	blood:	n/a	n/a
3	ARID3A	chr2:54334105-54334747	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:54303768-54304953	K562	blood:	n/a	n/a
5	ARID3A	chr2:54557735-54558115	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:54330391-54330394	K562	blood:	n/a	n/a
7	ARID3A	chr2:54629451-54629642	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:54348943-54349803	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:54270839-54271530	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:54280074-54280274	K562	blood:	n/a	n/a
11	ARID3A	chr2:54622074-54622134	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:54454959-54455274	K562	blood:	n/a	n/a
13	ARID3A	chr2:54673849-54674029	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:54301055-54301148	K562	blood:	n/a	n/a
15	ARID3A	chr2:54342112-54343329	HepG2	liver:	n/a	n/a
16	ARID3A	chr2:54433752-54434035	HepG2	liver:	n/a	n/a
17	ARID3A	chr2:54682853-54683244	HepG2	liver:	n/a	n/a
18	ARID3A	chr2:54434706-54435407	HepG2	liver:	n/a	n/a
19	ARID3A	chr2:54235562-54235878	HepG2	liver:	n/a	n/a
20	ARID3A	chr2:54439728-54439894	HepG2	liver:	n/a	n/a
21	ARID3A	chr2:54257321-54257392	K562	blood:	n/a	n/a
22	ARID3A	chr2:54616581-54616597	K562	blood:	n/a	n/a
23	ARID3A	chr2:54342214-54342674	K562	blood:	n/a	n/a
24	ARID3A	chr2:54488738-54489020	HepG2	liver:	n/a	n/a
25	ARID3A	chr2:54433811-54434099	K562	blood:	n/a	n/a
26	ARID3A	chr2:54370914-54371223	HepG2	liver:	n/a	n/a
27	ARID3A	chr2:54350062-54350502	HepG2	liver:	n/a	n/a
28	ARID3A	chr2:54461132-54461865	HepG2	liver:	n/a	n/a
29	ARID3A	chr2:54275644-54275675	K562	blood:	n/a	n/a
30	ARID3A	chr2:54681591-54682242	HepG2	liver:	n/a	n/a
31	ATF1	chr2:54491458-54491517	K562	blood:	n/a	n/a
32	ATF1	chr2:54482380-54482686	K562	blood:	n/a	n/a
33	ATF1	chr2:54639071-54639268	K562	blood:	n/a	n/a
34	ATF1	chr2:54653008-54653032	K562	blood:	n/a	n/a
35	ATF1	chr2:54227747-54228089	K562	blood:	n/a	n/a
36	ATF1	chr2:54304371-54304869	K562	blood:	n/a	n/a
37	ATF1	chr2:54643485-54643969	K562	blood:	n/a	n/a
38	ATF1	chr2:54629535-54629734	K562	blood:	n/a	n/a
39	ATF1	chr2:54667131-54667298	K562	blood:	n/a	n/a
40	ATF1	chr2:54602938-54603180	K562	blood:	n/a	n/a
41	ATF1	chr2:54535443-54535602	K562	blood:	n/a	n/a
42	ATF1	chr2:54308755-54309212	K562	blood:	n/a	n/a
43	ATF1	chr2:54350171-54350540	K562	blood:	n/a	n/a
44	ATF1	chr2:54568869-54569169	K562	blood:	n/a	n/a
45	ATF1	chr2:54501879-54502144	K562	blood:	n/a	n/a
46	ATF1	chr2:54454950-54455267	K562	blood:	n/a	n/a
47	ATF1	chr2:54563343-54563371	K562	blood:	n/a	n/a
48	ATF2	chr2:54342739-54343162	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr2:54342259-54343435	GM12878	blood:	n/a	n/a
50	ATF2	chr2:54300974-54301393	GM12878	blood:	n/a	n/a

(count:3731 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54557974-54558024	H1-hESC	embryonic stem cell:	embryo
2	chr2:54343179-54343229	NT2-D1	testis:	n/a
3	chr2:54682970-54683020	HL-60	blood:	n/a
4	chr2:54557974-54558024	HEEpiC	esophagus:	n/a
5	chr2:54517309-54517359	NB4	blood:	n/a
6	chr2:54683404-54683454	AG04449	skin:	fetal
7	chr2:54697181-54697231	SKMC	muscle:	n/a
8	chr2:54485712-54485762	HCM	heart:	n/a
9	chr2:54557902-54557952	ECC-1	luminal epithelium:	n/a
10	chr2:54483193-54483243	HPAEpiC	pulmonary alveolar:	n/a
11	chr2:54557974-54558024	H1-hESC	embryonic stem cell:	embryo
12	chr2:54343179-54343229	NT2-D1	testis:	n/a
13	chr2:54682970-54683020	HL-60	blood:	n/a
14	chr2:54557974-54558024	HEEpiC	esophagus:	n/a
15	chr2:54517309-54517359	NB4	blood:	n/a
16	chr2:54683404-54683454	AG04449	skin:	fetal
17	chr2:54697181-54697231	SKMC	muscle:	n/a
18	chr2:54485712-54485762	HCM	heart:	n/a
19	chr2:54557902-54557952	ECC-1	luminal epithelium:	n/a
20	chr2:54483193-54483243	HPAEpiC	pulmonary alveolar:	n/a
21	chr2:54598593-54598643	GM19239	blood:	n/a
22	chr2:54483058-54483108	HEEpiC	esophagus:	n/a
23	chr2:54482841-54482891	U87	brain:	n/a
24	chr2:54517309-54517359	PANC-1	pancreas:	n/a
25	chr2:54479214-54479264	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:54683404-54683454	AG04450	lung:	fetal
27	chr2:54323593-54323643	AG10803	skin:	n/a
28	chr2:54557974-54558024	IMR90	lung:	fetal
29	chr2:54318970-54319020	SK-N-MC	brain:	n/a
30	chr2:54350432-54350482	PrEC	prostate:	n/a
31	chr2:54558352-54558402	HepG2	liver:	n/a
32	chr2:54630332-54630382	LNCaP	prostate:	n/a
33	chr2:54685010-54685060	A549	lung:	n/a
34	chr2:54557904-54557954	AG09319	gingival:	n/a
35	chr2:54558352-54558402	LNCaP	prostate:	n/a
36	chr2:54683322-54683372	AG04449	skin:	fetal
37	chr2:54557904-54557954	Caco-2	colon:	n/a
38	chr2:54697181-54697231	PFSK-1	brain:	n/a
39	chr2:54467214-54467264	GM12878	blood:	n/a
40	chr2:54483619-54483669	HCPEpiC	choroid plexus:	n/a
41	chr2:54342651-54342701	AoSMC	blood vessel:	n/a
42	chr2:54557882-54557932	GM19239	blood:	n/a
43	chr2:54485712-54485762	HMEC	breast:	n/a
44	chr2:54683502-54683552	U87	brain:	n/a
45	chr2:54557882-54557932	HMEC	breast:	n/a
46	chr2:54483058-54483108	AG04449	skin:	fetal
47	chr2:54557902-54557952	SK-N-MC	brain:	n/a
48	chr2:54557495-54557545	Hela-S3	cervix:	n/a
49	chr2:54557882-54557932	NB4	blood:	n/a
50	chr2:54485712-54485762	PFSK-1	brain:	n/a

(count:238 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr19:48281526..48282040-chr2:54342571..54343371,2	NB4	blood:
2	chr2:54501772..54502741-chr2:54515554..54516142,2	MCF-7	breast:
3	chr2:54641076..54644026-chr2:54655042..54656989,2	MCF-7	breast:
4	chr2:54214773..54216416-chr2:54226494..54228805,2	MCF-7	breast:
5	chr2:54319207..54320818-chr2:54338574..54340927,2	K562	blood:
6	chr2:54341619..54344136-chr2:54698378..54700154,2	MCF-7	breast:
7	chr2:54556162..54557934-chr2:54568229..54570513,2	K562	blood:
8	chr2:54501772..54502741-chr2:54515554..54516142,2	MCF-7	breast:
9	chr2:54195890..54198066-chr2:54220619..54223431,2	MCF-7	breast:
10	chr2:54196832..54199012-chr2:54271016..54272887,2	MCF-7	breast:
11	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
12	chr2:54686513..54688620-chr2:54689845..54691769,2	MCF-7	breast:
13	chr2:54470373..54472757-chr2:54474538..54476431,2	K562	blood:
14	chr2:54570097..54573126-chr2:54573916..54576367,3	K562	blood:
15	chr2:54545854..54547406-chr2:54547534..54550529,2	MCF-7	breast:
16	chr2:54503721..54505972-chr2:54523725..54525740,2	K562	blood:
17	chr2:54511470..54513165-chr2:54513322..54515700,2	K562	blood:
18	chr2:54663522..54666566-chr2:54666978..54670736,4	K562	blood:
19	chr2:54630441..54633301-chr2:54634857..54637663,2	MCF-7	breast:
20	chr2:54683448..54684022-chr7:127291404..127292021,2	HCT-116	colon:
21	chr2:54511470..54513165-chr2:54513322..54515700,2	K562	blood:
22	chr2:54569839..54572791-chr2:54629016..54630836,2	K562	blood:
23	chr2:54587660..54591238-chr2:54594163..54597733,4	K562	blood:
24	chr2:54316468..54319152-chr2:54339625..54341327,2	K562	blood:
25	chr2:54465360..54468834-chr2:54480824..54482850,3	K562	blood:
26	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
27	chr2:54198564..54201435-chr2:54359737..54361960,2	K562	blood:
28	chr2:54196743..54198781-chr2:54341566..54344110,2	K562	blood:
29	chr2:54310601..54313895-chr2:54315141..54317483,3	MCF-7	breast:
30	chr2:54271220..54272220-chr4:3485719..3486363,2	MCF-7	breast:
31	chr2:54534452..54537396-chr2:54540353..54542646,2	MCF-7	breast:
32	chr2:54333529..54340855-chr2:54341009..54344742,14	K562	blood:
33	chr2:54341795..54343300-chr2:54353986..54355682,2	K562	blood:
34	chr16:20912054..20912881-chr2:54342309..54343237,2	Hela-S3	cervix:
35	chr2:54263866..54266283-chr2:54268179..54270997,2	MCF-7	breast:
36	chr2:54294456..54296366-chr2:54347167..54348766,2	K562	blood:
37	chr2:54348914..54351934-chr2:54354542..54358580,3	K562	blood:
38	chr2:54238943..54240796-chr2:54245575..54247733,2	K562	blood:
39	chr2:54318413..54321728-chr2:54322663..54325829,3	K562	blood:
40	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
41	chr2:54341659..54344698-chr2:54352246..54354996,3	MCF-7	breast:
42	chr2:54655292..54657691-chr2:54665507..54667789,2	K562	blood:
43	chr2:54570432..54573126-chr2:54574195..54576367,2	K562	blood:
44	chr2:54587660..54591238-chr2:54594163..54597733,4	K562	blood:
45	chr17:79849578..79850209-chr2:54342411..54343037,2	Hela-S3	cervix:
46	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
47	chr2:53993157..53995066-chr2:54480511..54482787,2	K562	blood:
48	chr2:54283618..54286059-chr2:54287821..54290236,2	MCF-7	breast:
49	chr2:54503721..54505972-chr2:54523725..54525740,2	K562	blood:
50	chr2:54431810..54434797-chr2:54434888..54436507,2	K562	blood:

(count:49 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSME4-1	chr2:54256689-54257003	NONHSAT070721
2	lnc-ACYP2-1	chr2:54278095-54278172	NONHSAT070714
3	lnc-ACYP2-4	chr2:54263335-54264887	NONHSAT070722
4	lnc-ACYP2-1	chr2:54292597-54293184	ENSG00000239235.3
5	lnc-SPTBN1-2	chr2:54673812-54673837	NONHSAT070736
6	lnc-PSME4-2	chr2:54307069-54307599	NONHSAT070719
7	lnc-PSME4-2	chr2:54289597-54289991	NONHSAT070719
8	lnc-SPTBN1-3	chr2:54659980-54660084	XLOC_001474
9	lnc-PSME4-2	chr2:54277197-54277685	NONHSAT070719
10	lnc-C2orf73-1	chr2:54610581-54610925	XLOC_001473
11	lnc-ACYP2-7	chr2:54219804-54221311	NONHSAT070716
12	lnc-SPTBN1-3	chr2:54660962-54661074	XLOC_001474
13	lnc-PSME4-2	chr2:54265061-54265273	NONHSAT070719
14	lnc-SPTBN1-2	chr2:54662633-54662642	XLOC_001475
15	lnc-ACYP2-2	chr2:54309691-54309925	ENSG00000272156.1
16	lnc-ACYP2-7	chr2:54221341-54222608	NONHSAT070716
17	lnc-SPTBN1-2	chr2:54662729-54663056	NONHSAT070736
18	lnc-C2orf73-1	chr2:54587340-54587408	NONHSAT070733
19	lnc-ACYP2-5	chr2:54254065-54254992	NONHSAT070720
20	lnc-SPTBN1-2	chr2:54662632-54662642	NONHSAT070736
21	lnc-PSME4-2	chr2:54279631-54279665	NONHSAT070719
22	lnc-PSME4-2	chr2:54278721-54279184	NONHSAT070719
23	lnc-C2orf73-1	chr2:54558124-54558138	NONHSAT070733
24	lnc-C2orf73-1	chr2:54609065-54609122	XLOC_001473
25	lnc-PSME4-2	chr2:54249535-54249668	NONHSAT070719
26	lnc-ACYP2-1	chr2:54284376-54284497	ENSG00000239235.3
27	lnc-ACYP2-1	chr2:54278095-54278187	ENSG00000239235.3
28	lnc-SPTBN1-2	chr2:54662730-54663056	XLOC_001475
29	lnc-ACYP2-6	chr2:54234735-54240630	NONHSAT070717
30	lnc-ACYP2-3	chr2:54278471-54278897	NONHSAT070725
31	lnc-C2orf73-1	chr2:54587981-54588079	NONHSAT070733
32	lnc-PSME4-2	chr2:54311715-54312205	NONHSAT070719
33	lnc-ACYP2-1	chr2:54284376-54284497	ENSG00000239235.3
34	lnc-PSME4-2	chr2:54248557-54249107	NONHSAT070719
35	lnc-ACYP2-1	chr2:54278095-54278187	ENSG00000239235.3
36	lnc-PSME4-2	chr2:54279456-54279477	NONHSAT070719
37	lnc-PSME4-2	chr2:54279610-54279622	NONHSAT070719
38	lnc-ACYP2-4	chr2:54264770-54265826	NONHSAT070723
39	lnc-SPTBN1-2	chr2:54673813-54673837	XLOC_001475
40	lnc-ACYP2-2	chr2:54311707-54312203	ENSG00000272156.1
41	lnc-PSME4-2	chr2:54284396-54284498	NONHSAT070719
42	lnc-ACYP2-4	chr2:54259644-54261288	NONHSAT070722
43	lnc-PSME4-2	chr2:54292597-54293185	NONHSAT070719
44	lnc-C2orf73-1	chr2:54610581-54610879	NONHSAT070733
45	lnc-PSME4-1	chr2:54257723-54257819	NONHSAT070721
46	lnc-ACYP2-1	chr2:54307069-54307601	ENSG00000239235.3
47	lnc-PSME4-2	chr2:54279531-54279583	NONHSAT070719
48	lnc-C2orf73-1	chr2:54608983-54609122	NONHSAT070733
49	lnc-PSME4-2	chr2:54307111-54307417	NONHSAT070726

No data

Variant related genes	Relation type
ENSG00000241114	TF binding region
TSPYL6	TF binding region
C2orf73	TF binding region
ENSG00000272156	TF binding region
SPTBN1	TF binding region
ENSG00000235937	TF binding region
RNU7-172P	TF binding region
ACYP2	TF binding region
HMGB1P31	TF binding region
ENSG00000241114	CpG island
TSPYL6	CpG island
C2orf73	CpG island
ENSG00000272156	CpG island
SPTBN1	CpG island
ENSG00000235937	CpG island
RNU7-172P	CpG island
ACYP2	CpG island
HMGB1P31	CpG island
ENSG00000178980	chromatin interactions
ENSG00000241114	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000141552	chromatin interactions
ENSG00000115306	chromatin interactions
ENSG00000175920	chromatin interactions
ENSG00000143942	chromatin interactions
ENSG00000140374	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000068878	chromatin interactions
ENSG00000233266	chromatin interactions
ENSG00000272156	chromatin interactions
ENSG00000178021	chromatin interactions
ENSG00000177994	chromatin interactions
ENSG00000115239	chromatin interactions
ENSG00000112893	chromatin interactions
ENSG00000102897	chromatin interactions
ENSG00000196562	chromatin interactions

Extended variants
information (count: 19765 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:19765 , 50 per page) page: 1 2 3 4 5 6 7 ... 396

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6545377	chr2:54220049-54220050	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370042192	chr2:54220117-54220118	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs559501512	chr2:54220140-54220141	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs528190819	chr2:54220141-54220142	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs548840021	chr2:54220176-54220177	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs148096139	chr2:54220199-54220200	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs531135300	chr2:54220202-54220203	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs551278448	chr2:54220209-54220210	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs571021632	chr2:54220227-54220228	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs539456458	chr2:54220250-54220251	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs6545378	chr2:54220284-54220285	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs566672723	chr2:54220292-54220293	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs183127765	chr2:54220340-54220341	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs554618843	chr2:54220342-54220343	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs115611026	chr2:54220359-54220360	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs574553075	chr2:54220375-54220376	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs536820211	chr2:54220434-54220435	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs529533369	chr2:54220440-54220441	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs557239978	chr2:54220449-54220450	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs371905375	chr2:54220484-54220485	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs549564142	chr2:54220486-54220487	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs568181707	chr2:54220487-54220488	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs545860298	chr2:54220555-54220556	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs559379067	chr2:54220566-54220567	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs6734917	chr2:54220570-54220571	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs187623299	chr2:54220603-54220604	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs550141145	chr2:54220607-54220608	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs113061665	chr2:54220616-54220617	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs374787132	chr2:54220749-54220750	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs191238363	chr2:54220765-54220766	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs13394278	chr2:54220771-54220772	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs550854650	chr2:54220788-54220789	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs564803950	chr2:54220794-54220795	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs570363651	chr2:54220809-54220810	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs376389201	chr2:54220813-54220814	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs111749051	chr2:54220839-54220840	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs74825343	chr2:54220848-54220849	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs373340304	chr2:54220859-54220860	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs139369011	chr2:54220890-54220891	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs6545379	chr2:54220898-54220899	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183768725	chr2:54220957-54220958	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs189601509	chr2:54221025-54221026	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs373217144	chr2:54221031-54221032	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs537261938	chr2:54221050-54221051	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs556833170	chr2:54221051-54221052	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs143170248	chr2:54221071-54221072	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs147511886	chr2:54221102-54221103	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs553030134	chr2:54221138-54221139	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs572895289	chr2:54221143-54221144	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs541811365	chr2:54221152-54221153	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6957 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54199000-54221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:54199000-54228800	Weak transcription	Aorta	Aorta
3	chr2:54204400-54226400	Weak transcription	Pancreas	Pancrea
4	chr2:54205200-54222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:54206000-54221600	Weak transcription	Thymus	Thymus
6	chr2:54206000-54226400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:54208200-54221400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:54208400-54248200	Weak transcription	Lung	lung
9	chr2:54208600-54220200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:54209000-54221400	Weak transcription	Fetal Thymus	thymus
11	chr2:54209000-54221600	Weak transcription	Dnd41	blood
12	chr2:54211200-54220600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:54211400-54220200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:54211400-54243000	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:54213600-54249800	Weak transcription	Left Ventricle	heart
16	chr2:54215000-54220600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:54215000-54226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:54215000-54226000	Weak transcription	HSMMtube	muscle
19	chr2:54215000-54242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:54215200-54220400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:54215200-54220400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:54215200-54225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:54215400-54220200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:54215400-54220200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:54216400-54242000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:54216600-54226400	Weak transcription	Ovary	ovary
27	chr2:54217000-54225600	Weak transcription	Right Atrium	heart
28	chr2:54217000-54225800	Weak transcription	Psoas Muscle	Psoas
29	chr2:54217000-54226000	Weak transcription	Adipose Nuclei	Adipose
30	chr2:54217000-54226000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:54217000-54236600	Weak transcription	Brain Angular Gyrus	brain
32	chr2:54217000-54236800	Weak transcription	Brain Anterior Caudate	brain
33	chr2:54217000-54248200	Weak transcription	Gastric	stomach
34	chr2:54217200-54233800	Weak transcription	HepG2	liver
35	chr2:54217200-54239600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:54218400-54221600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:54219000-54221200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:54219000-54221600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr2:54219000-54221800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr2:54219200-54226800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr2:54219400-54220200	Weak transcription	Primary T cells from cord blood	blood
42	chr2:54219400-54221600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:54219600-54221600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr2:54219800-54220200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:54220000-54221600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr2:54220000-54221600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr2:54220000-54221600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:54220200-54220400	Enhancers	Primary B cells from cord blood	blood
49	chr2:54220200-54221600	Enhancers	Primary T cells from cord blood	blood
50	chr2:54220200-54221600	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links