Variant report

Variant	nsv818048
Chromosome Location	chr2:74225434-74313080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1930)
CpG islands
(count:1465)
Chromatin interactive
region (count:201)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1930 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:74271073-74271346	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:74253544-74253827	K562	blood:	n/a	n/a
3	ARID3A	chr2:74270427-74270714	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:74304720-74304919	K562	blood:	n/a	n/a
5	ARID3A	chr2:74310981-74311325	K562	blood:	n/a	n/a
6	ARID3A	chr2:74299790-74300099	K562	blood:	n/a	n/a
7	ARID3A	chr2:74263359-74264152	K562	blood:	n/a	n/a
8	ARID3A	chr2:74276243-74276497	K562	blood:	n/a	n/a
9	ARID3A	chr2:74270507-74270776	K562	blood:	n/a	n/a
10	ARID3A	chr2:74259792-74260212	K562	blood:	n/a	n/a
11	ARID3A	chr2:74305588-74305999	K562	blood:	n/a	n/a
12	ATF1	chr2:74264678-74265000	K562	blood:	n/a	n/a
13	ATF1	chr2:74305703-74305867	K562	blood:	n/a	n/a
14	ATF1	chr2:74263608-74264096	K562	blood:	n/a	n/a
15	ATF2	chr2:74306899-74307749	GM12878	blood:	n/a	n/a
16	ATF2	chr2:74306816-74307590	GM12878	blood:	n/a	n/a
17	ATF2	chr2:74259051-74260581	GM12878	blood:	n/a	n/a
18	ATF2	chr2:74247755-74248213	GM12878	blood:	n/a	n/a
19	ATF3	chr2:74230631-74230943	K562	blood:	n/a	n/a
20	ATF3	chr2:74230691-74230863	K562	blood:	n/a	n/a
21	BACH1	chr2:74304887-74304962	K562	blood:	n/a	n/a
22	BACH1	chr2:74230225-74230595	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr2:74270381-74270387	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr2:74231082-74231201	K562	blood:	n/a	n/a
25	BACH1	chr2:74230816-74231294	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr2:74253595-74253664	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr2:74287279-74287292	K562	blood:	n/a	n/a
28	BACH1	chr2:74276118-74276509	K562	blood:	n/a	n/a
29	BACH1	chr2:74229699-74229979	H1-hESC	embryonic stem cell:	n/a	n/a
30	BATF	chr2:74306858-74307395	GM12878	blood:	n/a	n/a
31	BATF	chr2:74307008-74307420	GM12878	blood:	n/a	n/a
32	BCL11A	chr2:74307011-74307472	GM12878	blood:	n/a	chr2:74307312-74307321
33	BCL11A	chr2:74307204-74307417	GM12878	blood:	n/a	chr2:74307312-74307321
34	BCL3	chr2:74229324-74230116	GM12878	blood:	n/a	chr2:74229776-74229785 chr2:74229797-74229810 chr2:74229748-74229761 chr2:74229600-74229613
35	BCL3	chr2:74306987-74307444	GM12878	blood:	n/a	chr2:74307312-74307321
36	BCL3	chr2:74259170-74260391	GM12878	blood:	n/a	n/a
37	BCLAF1	chr2:74306773-74307811	GM12878	blood:	n/a	chr2:74307312-74307321
38	BCLAF1	chr2:74259070-74260292	GM12878	blood:	n/a	n/a
39	BCLAF1	chr2:74256766-74257220	GM12878	blood:	n/a	n/a
40	BCLAF1	chr2:74259085-74260285	GM12878	blood:	n/a	n/a
41	BCLAF1	chr2:74244254-74244659	GM12878	blood:	n/a	n/a
42	BCLAF1	chr2:74306854-74307506	GM12878	blood:	n/a	chr2:74307312-74307321
43	BHLHE40	chr2:74276107-74276676	K562	blood:	n/a	n/a
44	BHLHE40	chr2:74268555-74268651	K562	blood:	n/a	n/a
45	BHLHE40	chr2:74278846-74278862	GM12878	blood:	n/a	n/a
46	BHLHE40	chr2:74306910-74307621	GM12878	blood:	n/a	n/a
47	BHLHE40	chr2:74237428-74237515	K562	blood:	n/a	n/a
48	BHLHE40	chr2:74302868-74303157	K562	blood:	n/a	n/a
49	BHLHE40	chr2:74256922-74257420	GM12878	blood:	n/a	n/a
50	BHLHE40	chr2:74231086-74231124	K562	blood:	n/a	n/a

(count:1465 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74308468-74308518	SK-N-SH_RA	brain:	n/a
2	chr2:74308468-74308518	SK-N-SH_RA	brain:	n/a
3	chr2:74270286-74270336	PANC-1	pancreas:	n/a
4	chr2:74231297-74231347	GM12891	blood:	n/a
5	chr2:74272962-74273012	HMEC	breast:	n/a
6	chr2:74280825-74280875	HCT-116	colon:	n/a
7	chr2:74280825-74280875	BJ	skin:	n/a
8	chr2:74280825-74280875	PANC-1	pancreas:	n/a
9	chr2:74247286-74247336	BE2_C	brain:	n/a
10	chr2:74229995-74230045	SAEC	small airway:	n/a
11	chr2:74275178-74275228	AoSMC	blood vessel:	n/a
12	chr2:74230310-74230360	Hepatocyte	liver:	n/a
13	chr2:74275178-74275228	HAEpiC	amniotic membrane:	n/a
14	chr2:74227916-74227966	Hela-S3	cervix:	n/a
15	chr2:74229995-74230045	Jurkat	blood:	n/a
16	chr2:74232673-74232723	GM12891	blood:	n/a
17	chr2:74229995-74230045	AG10803	skin:	n/a
18	chr2:74234594-74234644	GM06990	blood:	n/a
19	chr2:74228640-74228690	HepG2	liver:	n/a
20	chr2:74236068-74236118	Jurkat	blood:	n/a
21	chr2:74287435-74287485	GM06990	blood:	n/a
22	chr2:74229594-74229644	RPTEC	kidney:	n/a
23	chr2:74308468-74308518	HEEpiC	esophagus:	n/a
24	chr2:74270286-74270336	SK-N-SH_RA	brain:	n/a
25	chr2:74308468-74308518	NT2-D1	testis:	n/a
26	chr2:74280825-74280875	HCM	heart:	n/a
27	chr2:74272104-74272154	AG04450	lung:	fetal
28	chr2:74227474-74227524	HCM	heart:	n/a
29	chr2:74264707-74264757	AG04450	lung:	fetal
30	chr2:74275178-74275228	IMR90	lung:	fetal
31	chr2:74227100-74227150	CMK	blood:	n/a
32	chr2:74229824-74229874	GM06990	blood:	n/a
33	chr2:74236068-74236118	GM12892	blood:	n/a
34	chr2:74272773-74272823	PFSK-1	brain:	n/a
35	chr2:74227916-74227966	Caco-2	colon:	n/a
36	chr2:74227100-74227150	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:74234594-74234644	AG09319	gingival:	n/a
38	chr2:74264707-74264757	U87	brain:	n/a
39	chr2:74264707-74264757	NB4	blood:	n/a
40	chr2:74232673-74232723	MCF-7	breast:	n/a
41	chr2:74230310-74230360	GM19239	blood:	n/a
42	chr2:74230310-74230360	T-47D	breast:	n/a
43	chr2:74264707-74264757	RPTEC	kidney:	n/a
44	chr2:74230310-74230360	AG09309	skin:	n/a
45	chr2:74308468-74308518	BE2_C	brain:	n/a
46	chr2:74229594-74229644	T-47D	breast:	n/a
47	chr2:74229594-74229644	HRPEpiC	eye:	n/a
48	chr2:74272104-74272154	SAEC	small airway:	n/a
49	chr2:74236068-74236118	HEEpiC	esophagus:	n/a
50	chr2:74287435-74287485	SK-N-SH_RA	brain:	n/a

(count:201 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr2:74210805..74212342-chr2:74309790..74311328,2	MCF-7	breast:
2	chr2:74233016..74235025-chr2:74236892..74238605,2	K562	blood:
3	chr2:74229439..74231997-chr2:74248517..74251708,3	K562	blood:
4	chr2:74255095..74256663-chr2:74259404..74261746,2	K562	blood:
5	chr2:74247122..74249502-chr2:74251565..74254079,2	MCF-7	breast:
6	chr2:74235118..74237741-chr2:74241816..74243889,3	K562	blood:
7	chr2:74253448..74255078-chr2:74425486..74427402,2	K562	blood:
8	chr2:74227214..74229329-chr2:74244433..74246897,2	K562	blood:
9	chr2:74311799..74313643-chr2:74317613..74320448,2	K562	blood:
10	chr2:74212010..74214395-chr2:74301311..74304248,2	MCF-7	breast:
11	chr2:74210992..74214307-chr2:74278906..74282419,5	MCF-7	breast:
12	chr2:74213085..74215913-chr2:74284543..74286784,2	MCF-7	breast:
13	chr2:74269549..74271740-chr2:74273522..74276997,3	MCF-7	breast:
14	chr2:74233005..74244618-chr2:74246652..74253562,14	MCF-7	breast:
15	chr2:74246711..74248294-chr2:74346277..74349272,2	MCF-7	breast:
16	chr2:74239770..74244279-chr2:74244536..74249851,6	K562	blood:
17	chr2:74256789..74258889-chr2:74279612..74281953,2	MCF-7	breast:
18	chr2:74254651..74256596-chr2:74261749..74264116,3	K562	blood:
19	chr2:74247761..74249753-chr2:74252824..74255586,3	K562	blood:
20	chr2:74263494..74265315-chr2:74423990..74425965,2	K562	blood:
21	chr2:74233183..74235025-chr2:74237105..74239040,2	K562	blood:
22	chr2:74256729..74258629-chr2:74258988..74261900,2	K562	blood:
23	chr2:74263852..74266331-chr2:74266668..74270220,4	K562	blood:
24	chr2:74055799..74057566-chr2:74228295..74229864,2	MCF-7	breast:
25	chr2:74209951..74212792-chr2:74253349..74255085,2	K562	blood:
26	chr2:74276566..74278886-chr2:74279074..74282832,3	MCF-7	breast:
27	chr2:74281718..74284526-chr2:74285973..74287556,2	MCF-7	breast:
28	chr2:74232391..74233898-chr2:74239734..74241250,2	K562	blood:
29	chr2:74224947..74225590-chr2:74307213..74308057,2	MCF-7	breast:
30	chr2:74238286..74241137-chr2:74245038..74247352,3	MCF-7	breast:
31	chr2:74237656..74239767-chr2:74475472..74477002,2	K562	blood:
32	chr17:57914589..57917529-chr2:74223236..74226145,2	MCF-7	breast:
33	chr2:74157469..74158980-chr2:74232368..74234630,2	K562	blood:
34	chr2:74299165..74300793-chr2:74302480..74304693,2	MCF-7	breast:
35	chr2:74227210..74228035-chr8:24593614..24594576,2	MCF-7	breast:
36	chr2:74256789..74258889-chr2:74279612..74281953,2	MCF-7	breast:
37	chr2:74210506..74213042-chr2:74302850..74305189,2	K562	blood:
38	chr2:74249742..74252123-chr2:74253295..74256040,2	MCF-7	breast:
39	chr2:74233016..74235025-chr2:74236892..74238605,2	K562	blood:
40	chr2:74156030..74157687-chr2:74228022..74229641,2	K562	blood:
41	chr2:74211459..74213612-chr2:74254624..74256605,2	MCF-7	breast:
42	chr2:74249742..74252123-chr2:74253295..74256040,2	MCF-7	breast:
43	chr2:74207972..74211513-chr2:74291820..74293907,4	MCF-7	breast:
44	chr2:74247761..74249753-chr2:74252824..74255586,3	K562	blood:
45	chr2:74209217..74211366-chr2:74294188..74296510,3	MCF-7	breast:
46	chr2:74281718..74284526-chr2:74285973..74287556,2	MCF-7	breast:
47	chr2:74263750..74267356-chr2:74281436..74283825,3	K562	blood:
48	chr2:74210549..74215392-chr2:74304825..74309552,5	MCF-7	breast:
49	chr2:74263154..74265649-chr2:74267103..74270206,3	MCF-7	breast:
50	chr2:74245821..74249832-chr2:74253279..74256984,4	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BOLA3-4	chr2:74234640-74235019	NONHSAT071648
2	lnc-BOLA3-4	chr2:74237247-74237662	NONHSAT071648
3	lnc-TET3-3	chr2:74228680-74228858	ucscGeneNc_uc002ske_2
4	lnc-BOLA3-4	chr2:74252716-74252962	NONHSAT071648
5	lnc-TET3-3	chr2:74229333-74230678	ucscGeneNc_uc002ske_2
6	lnc-BOLA3-4	chr2:74233235-74235861	ucscGeneNc_uc010ffa_1
7	lnc-BOLA3-4	chr2:74233894-74234013	NONHSAT071648
8	lnc-AC073263.1-4	chr2:74297190-74298172	ncRnaDb_ncrna_FR186324_1
9	lnc-BOLA3-4	chr2:74238898-74239002	NONHSAT071648
10	lnc-BOLA3-3	chr2:74225464-74225673	NONHSAT071659
11	lnc-TET3-3	chr2:74228985-74229113	ucscGeneNc_uc002ske_2

No data

Variant related genes	Relation type
TET3	TF binding region
TET3	CpG island
ENSG00000237883	chromatin interactions
ENSG00000255989	chromatin interactions
ENSG00000124356	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000114956	chromatin interactions
ENSG00000188687	chromatin interactions
ENSG00000257800	chromatin interactions
ENSG00000144048	chromatin interactions
ENSG00000239779	chromatin interactions
ENSG00000125534	chromatin interactions
ENSG00000163170	chromatin interactions
ENSG00000235499	chromatin interactions
ENSG00000225439	chromatin interactions
ENSG00000065911	chromatin interactions
ENSG00000187605	chromatin interactions

Extended variants
information (count: 3323 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:3323 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13416937	chr2:74225434-74225435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542637192	chr2:74225480-74225481	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs191166974	chr2:74225538-74225539	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs140091857	chr2:74225584-74225585	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs571502896	chr2:74225612-74225613	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs369895550	chr2:74225618-74225619	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs571779475	chr2:74225637-74225638	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs532543216	chr2:74225638-74225639	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs374158585	chr2:74225688-74225689	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs535391867	chr2:74225706-74225707	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs547531520	chr2:74225724-74225725	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs565825701	chr2:74225740-74225741	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs35972889	chr2:74225748-74225749	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554494756	chr2:74225876-74225877	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs114295531	chr2:74225883-74225884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs537716589	chr2:74225884-74225885	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs568220873	chr2:74225886-74225887	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs535650955	chr2:74225999-74226000	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150305346	chr2:74226089-74226090	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs4241258	chr2:74226102-74226103	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs545222873	chr2:74226108-74226109	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184757532	chr2:74226120-74226121	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs4384817	chr2:74226141-74226142	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189454133	chr2:74226142-74226143	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs115774016	chr2:74226212-74226213	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576153640	chr2:74226213-74226214	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs531319258	chr2:74226214-74226215	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs57602370	chr2:74226330-74226331	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs149116195	chr2:74226379-74226380	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs532608080	chr2:74226432-74226433	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs145919365	chr2:74226494-74226495	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs557240979	chr2:74226498-74226499	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs192400312	chr2:74226531-74226532	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548580636	chr2:74226534-74226535	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs185346677	chr2:74226552-74226553	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs190191937	chr2:74226595-74226596	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs556233779	chr2:74226618-74226619	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs138832411	chr2:74226630-74226631	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs555196468	chr2:74226673-74226674	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs573607881	chr2:74226715-74226716	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs370159566	chr2:74226746-74226747	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs67726343	chr2:74226757-74226758	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs35118960	chr2:74226759-74226760	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs397985021	chr2:74226760-74226761	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs553964809	chr2:74226799-74226800	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs572184259	chr2:74226841-74226842	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559368146	chr2:74226854-74226855	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542776193	chr2:74226912-74226913	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs114487186	chr2:74226916-74226917	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs181300757	chr2:74226922-74226923	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3800 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74215800-74225600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:74215800-74226800	Weak transcription	Colonic Mucosa	Colon
3	chr2:74215800-74226800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:74215800-74226800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:74215800-74227000	Weak transcription	Right Atrium	heart
6	chr2:74215800-74227400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:74215800-74229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:74216000-74227000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:74216000-74227000	Weak transcription	Small Intestine	intestine
10	chr2:74216400-74226600	Weak transcription	Fetal Heart	heart
11	chr2:74216400-74229200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:74216600-74226800	Weak transcription	Fetal Kidney	kidney
13	chr2:74216600-74227400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:74216800-74226600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:74216800-74226800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:74218000-74226800	Weak transcription	Liver	Liver
17	chr2:74219400-74226400	Strong transcription	Fetal Intestine Small	intestine
18	chr2:74220600-74227400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:74220800-74226600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:74220800-74226800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:74220800-74226800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:74220800-74226800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:74220800-74229200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:74221000-74226400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:74221000-74226800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:74221200-74226000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:74221200-74226600	Weak transcription	Esophagus	oesophagus
28	chr2:74221200-74226600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:74221200-74226800	Weak transcription	Right Ventricle	heart
30	chr2:74221200-74227000	Weak transcription	Adipose Nuclei	Adipose
31	chr2:74221200-74227000	Weak transcription	NHLF	lung
32	chr2:74221200-74227200	Weak transcription	Gastric	stomach
33	chr2:74221200-74228800	Weak transcription	Psoas Muscle	Psoas
34	chr2:74221400-74226400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:74221400-74227200	Weak transcription	HSMMtube	muscle
36	chr2:74221400-74229000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:74221600-74226000	Weak transcription	NHEK	skin
38	chr2:74221800-74226600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:74222000-74226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:74222000-74226000	Strong transcription	HepG2	liver
41	chr2:74222000-74226600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:74222600-74228400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:74222600-74229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:74222800-74226400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:74222800-74226600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr2:74222800-74226800	Strong transcription	Fetal Stomach	stomach
47	chr2:74222800-74229000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:74222800-74229200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr2:74223000-74226000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:74223000-74226800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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