Variant report

Variant	esv1834006
Chromosome Location	chr4:174089048-174091110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:708)
CpG islands
(count:551)
Chromatin interactive
region (count:11)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:174088980-174089588	K562	blood:	n/a	n/a
2	ATF2	chr4:174090599-174091123	GM12878	blood:	n/a	n/a
3	ATF2	chr4:174089161-174090256	GM12878	blood:	n/a	n/a
4	BCL3	chr4:174090487-174091185	GM12878	blood:	n/a	chr4:174091074-174091087 chr4:174091058-174091067 chr4:174091053-174091066
5	BCLAF1	chr4:174090455-174091518	GM12878	blood:	n/a	chr4:174091074-174091087 chr4:174091188-174091201 chr4:174091390-174091403 chr4:174091058-174091067 chr4:174091053-174091066 chr4:174091339-174091352 chr4:174091237-174091250
6	BCLAF1	chr4:174089043-174089916	GM12878	blood:	n/a	chr4:174089471-174089480
7	BCLAF1	chr4:174089970-174091477	GM12878	blood:	n/a	chr4:174091074-174091087 chr4:174091188-174091201 chr4:174091390-174091403 chr4:174091058-174091067 chr4:174091053-174091066 chr4:174091339-174091352 chr4:174091237-174091250
8	BHLHE40	chr4:174089193-174090215	K562	blood:	n/a	n/a
9	BHLHE40	chr4:174089199-174091431	GM12878	blood:	n/a	chr4:174091236-174091252
10	BHLHE40	chr4:174090429-174090716	K562	blood:	n/a	n/a
11	BHLHE40	chr4:174090921-174091140	K562	blood:	n/a	n/a
12	BRCA1	chr4:174089424-174090092	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr4:174089655-174089757	GM12878	blood:	n/a	n/a
14	BRCA1	chr4:174090033-174090093	GM12878	blood:	n/a	n/a
15	CBX3	chr4:174088919-174090047	K562	blood:	n/a	n/a
16	CCNT2	chr4:174089399-174091484	K562	blood:	n/a	chr4:174091265-174091274
17	CEBPB	chr4:174091025-174091493	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr4:174088871-174089512	GM12878	blood:	n/a	n/a
19	CEBPD	chr4:174089519-174090125	K562	blood:	n/a	n/a
20	CHD1	chr4:174090097-174090135	GM12878	blood:	n/a	n/a
21	CHD1	chr4:174090595-174090791	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr4:174090360-174091466	GM12878	blood:	n/a	chr4:174091257-174091267
23	CHD1	chr4:174091040-174091601	H1-hESC	embryonic stem cell:	n/a	chr4:174091257-174091267
24	CHD1	chr4:174089136-174089525	GM12878	blood:	n/a	n/a
25	CHD2	chr4:174089359-174090243	GM12878	blood:	n/a	n/a
26	CHD2	chr4:174090937-174091349	H1-hESC	embryonic stem cell:	n/a	chr4:174091257-174091267
27	CHD2	chr4:174090587-174091342	Hela-S3	cervix:	n/a	chr4:174091257-174091267
28	CHD2	chr4:174089132-174089998	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr4:174090482-174091501	GM12878	blood:	n/a	chr4:174091257-174091267
30	CHD2	chr4:174089048-174090124	K562	blood:	n/a	n/a
31	CHD2	chr4:174089286-174089962	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr4:174090572-174090861	A549	lung:	n/a	n/a
33	CREB1	chr4:174090177-174090477	A549	lung:	n/a	n/a
34	CTBP2	chr4:174089301-174091498	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr4:174090185-174090219	MCF-7	breast:	n/a	n/a
36	CTCF	chr4:174090528-174090621	MCF-7	breast:	n/a	n/a
37	CTCF	chr4:174090440-174090590	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr4:174090340-174090490	GM12875	blood:	n/a	n/a
39	CTCF	chr4:174089680-174089830	HMF	breast:	n/a	n/a
40	CTCF	chr4:174090460-174090610	AG09319	gingival:	n/a	n/a
41	CTCF	chr4:174089960-174090110	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr4:174089640-174089790	GM12873	blood:	n/a	n/a
43	CTCF	chr4:174090549-174090574	GM12891	blood:	n/a	n/a
44	CTCF	chr4:174090531-174090592	GM19238	blood:	n/a	n/a
45	CTCF	chr4:174090560-174090564	GM19240	blood:	n/a	n/a
46	CTCF	chr4:174090800-174090950	GM12869	blood:	n/a	n/a
47	CTCF	chr4:174089660-174089810	BJ	skin:	n/a	n/a
48	CTCF	chr4:174090500-174090650	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr4:174090420-174090727	K562	blood:	n/a	n/a
50	CTCF	chr4:174090580-174090730	GM12869	blood:	n/a	n/a

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:174089755-174089805	NH-A	brain:	n/a
2	chr4:174089515-174089565	HUVEC	blood vessel:	n/a
3	chr4:174089755-174089805	NH-A	brain:	n/a
4	chr4:174089515-174089565	HUVEC	blood vessel:	n/a
5	chr4:174090558-174090608	ProgFib	skin:	n/a
6	chr4:174089019-174089069	MCF10A-Er-Src	breast:	n/a
7	chr4:174089978-174090028	HIPEpiC	eye:	n/a
8	chr4:174089402-174089452	RPTEC	kidney:	n/a
9	chr4:174089978-174090028	BJ	skin:	n/a
10	chr4:174089515-174089565	CMK	blood:	n/a
11	chr4:174091002-174091052	BJ	skin:	n/a
12	chr4:174089515-174089565	SK-N-SH_RA	brain:	n/a
13	chr4:174089748-174089798	HIPEpiC	eye:	n/a
14	chr4:174089748-174089798	AG09309	skin:	n/a
15	chr4:174089748-174089798	SKMC	muscle:	n/a
16	chr4:174091002-174091052	H1-hESC	embryonic stem cell:	embryo
17	chr4:174090558-174090608	GM12878	blood:	n/a
18	chr4:174089402-174089452	MCF10A-Er-Src	breast:	n/a
19	chr4:174090085-174090135	HCM	heart:	n/a
20	chr4:174089978-174090028	HAEpiC	amniotic membrane:	n/a
21	chr4:174089978-174090028	K562	blood:	n/a
22	chr4:174089019-174089069	HUVEC	blood vessel:	n/a
23	chr4:174089748-174089798	NHDF-neo	bronchial:	n/a
24	chr4:174089755-174089805	AG09319	gingival:	n/a
25	chr4:174091002-174091052	AG04449	skin:	fetal
26	chr4:174089019-174089069	ECC-1	luminal epithelium:	n/a
27	chr4:174090558-174090608	Hepatocyte	liver:	n/a
28	chr4:174091002-174091052	AG10803	skin:	n/a
29	chr4:174089755-174089805	GM12891	blood:	n/a
30	chr4:174089402-174089452	GM19239	blood:	n/a
31	chr4:174090558-174090608	GM19239	blood:	n/a
32	chr4:174091002-174091052	HCM	heart:	n/a
33	chr4:174090558-174090608	HIPEpiC	eye:	n/a
34	chr4:174089515-174089565	HIPEpiC	eye:	n/a
35	chr4:174090085-174090135	AG09319	gingival:	n/a
36	chr4:174089402-174089452	AG09319	gingival:	n/a
37	chr4:174089515-174089565	HNPCEpiC	eye:	n/a
38	chr4:174089515-174089565	PFSK-1	brain:	n/a
39	chr4:174089755-174089805	AG04449	skin:	fetal
40	chr4:174090558-174090608	AG09319	gingival:	n/a
41	chr4:174089515-174089565	A549	lung:	n/a
42	chr4:174089515-174089565	NH-A	brain:	n/a
43	chr4:174090558-174090608	SK-N-SH_RA	brain:	n/a
44	chr4:174089978-174090028	NHDF-neo	bronchial:	n/a
45	chr4:174089019-174089069	PANC-1	pancreas:	n/a
46	chr4:174089755-174089805	SAEC	small airway:	n/a
47	chr4:174089019-174089069	NT2-D1	testis:	n/a
48	chr4:174091002-174091052	NHBE	bronchial:	n/a
49	chr4:174091002-174091052	NHDF-neo	bronchial:	n/a
50	chr4:174091002-174091052	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:174090877..174092412-chr4:174243600..174245281,2	K562	blood:
2	chr1:65719996..65720543-chr4:174088718..174089605,2	Hela-S3	cervix:
3	chr4:174080088..174082274-chr4:174088293..174089862,2	MCF-7	breast:
4	chr4:174072381..174074317-chr4:174086673..174089260,2	K562	blood:
5	chr4:174087023..174089565-chr4:174159233..174161373,2	MCF-7	breast:
6	chr4:174087322..174089631-chr4:174102847..174104512,2	K562	blood:
7	chr4:174089447..174090027-chr7:32534803..32535652,2	Hela-S3	cervix:
8	chr12:7052640..7053180-chr4:174090042..174090925,2	HCT-116	colon:
9	chr4:174088713..174091772-chr4:174254390..174258410,4	K562	blood:
10	chr4:174084331..174086204-chr4:174086936..174089803,3	MCF-7	breast:
11	chr4:174088355..174091772-chr4:174254077..174258410,8	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGB2-3	chr4:174090015-174090337	NONHSAT099223
2	lnc-HMGB2-3	chr4:174089113-174089264	ENSG00000245213
3	lnc-HMGB2-3	chr4:174090015-174090306	ENSG00000245213
4	lnc-HMGB2-3	chr4:174089113-174089264	NONHSAT099223
5	lnc-HMGB2-3	chr4:174089113-174089264	ENSG00000245213
6	lnc-HMGB2-3	chr4:174090015-174090078	ENSG00000245213
7	lnc-HMGB2-3	chr4:174090015-174090803	ENSG00000245213
8	lnc-HMGB2-3	chr4:174089113-174089264	NONHSAT099220
9	lnc-HMGB2-3	chr4:174089113-174089264	ENSG00000245213
10	lnc-HMGB2-3	chr4:174090015-174090337	NONHSAT099220
11	lnc-HMGB2-3	chr4:174089114-174089818	NONHSAT099224

No data

Variant related genes	Relation type
ENSG00000245213	TF binding region
GALNT7	TF binding region
ENSG00000245213	CpG island
GALNT7	CpG island
ENSG00000238923	chromatin interactions
ENSG00000116675	chromatin interactions
ENSG00000106355	chromatin interactions
ENSG00000164104	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000105778	chromatin interactions
MRPL35	miRNA target sites
BNIP3L	miRNA target sites
MAP7	miRNA target sites
LGR4	miRNA target sites
MED13	miRNA target sites
POGZ	miRNA target sites

Extended variants
information (count: 74 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1054497	chr4:174089048-174089049	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75018733	chr4:174089072-174089073	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs1054496	chr4:174089080-174089081	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527734122	chr4:174089112-174089113	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs547745078	chr4:174089152-174089153	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs567685331	chr4:174089154-174089155	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs6835098	chr4:174089238-174089239	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
8	rs200476523	chr4:174089306-174089307	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs569727316	chr4:174089308-174089309	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs11335242	chr4:174089318-174089319	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs192080906	chr4:174089320-174089321	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs571924780	chr4:174089325-174089326	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs183930328	chr4:174089326-174089327	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs147931899	chr4:174089343-174089344	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs557671473	chr4:174089368-174089369	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs541379373	chr4:174089410-174089411	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs4695826	chr4:174089426-174089427	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577941386	chr4:174089433-174089434	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs371572868	chr4:174089485-174089486	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs573531328	chr4:174089624-174089625	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs6835517	chr4:174089635-174089636	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs540329240	chr4:174089675-174089676	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs576753655	chr4:174089755-174089756	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs545617673	chr4:174089769-174089770	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs565383167	chr4:174089791-174089792	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs571911943	chr4:174089872-174089873	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs188474717	chr4:174089947-174089948	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs373096146	chr4:174089950-174089951	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs374774762	chr4:174089962-174089963	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs202086821	chr4:174089972-174089973	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs200985806	chr4:174089983-174089984	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs139360181	chr4:174089998-174089999	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs200341876	chr4:174090001-174090002	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs3733477	chr4:174090004-174090005	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373166043	chr4:174090036-174090037	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs146537464	chr4:174090089-174090090	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs537694189	chr4:174090093-174090094	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs551145784	chr4:174090100-174090101	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs140012242	chr4:174090107-174090108	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs376261216	chr4:174090134-174090135	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs370971272	chr4:174090144-174090145	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs200827067	chr4:174090147-174090148	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs370716434	chr4:174090150-174090151	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs573592932	chr4:174090172-174090173	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs536246470	chr4:174090211-174090212	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs567889053	chr4:174090257-174090258	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs556343245	chr4:174090279-174090280	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs372233015	chr4:174090283-174090284	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs79371520	chr4:174090289-174090290	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs191879471	chr4:174090375-174090376	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174073600-174089200	Weak transcription	Aorta	Aorta
2	chr4:174088400-174091400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr4:174088400-174091600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr4:174088400-174091600	Active TSS	A549	lung
5	chr4:174088400-174092200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr4:174088600-174089400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr4:174088600-174089800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:174088600-174091400	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr4:174088600-174092000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:174088800-174089200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:174088800-174089200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:174088800-174089200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:174088800-174089200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr4:174088800-174089200	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr4:174088800-174089200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr4:174088800-174089200	Flanking Active TSS	HMEC	breast
17	chr4:174088800-174089200	Flanking Active TSS	K562	blood
18	chr4:174088800-174089400	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr4:174088800-174089400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr4:174088800-174089400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr4:174088800-174089600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr4:174088800-174089600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:174088800-174089600	Flanking Active TSS	Fetal Thymus	thymus
24	chr4:174088800-174089600	Flanking Active TSS	Dnd41	blood
25	chr4:174088800-174089600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr4:174088800-174089600	Flanking Active TSS	NHEK	skin
27	chr4:174088800-174089800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr4:174088800-174089800	Flanking Active TSS	HUVEC	blood vessel
29	chr4:174088800-174090200	Active TSS	Fetal Brain Male	brain
30	chr4:174088800-174091400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:174088800-174091400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:174088800-174091400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:174088800-174091400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:174088800-174091400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:174088800-174091400	Active TSS	Fetal Intestine Small	intestine
36	chr4:174088800-174091400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr4:174088800-174091400	Active TSS	Rectal Smooth Muscle	rectum
38	chr4:174088800-174091600	Active TSS	H1 Cell Line	embryonic stem cell
39	chr4:174088800-174091600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:174088800-174091600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:174088800-174091600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr4:174088800-174091600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr4:174088800-174091600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:174088800-174091800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:174088800-174091800	Active TSS	Colonic Mucosa	Colon
46	chr4:174088800-174092000	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:174088800-174092000	Active TSS	Fetal Kidney	kidney
48	chr4:174088800-174092200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:174088800-174092200	Active TSS	HSMMtube	muscle
50	chr4:174088800-174092400	Active TSS	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links