Variant report

Variant	nsv878582
Chromosome Location	chr4:8023484-8047973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr4:8029949-8030517	GM12878	blood:	n/a	n/a
2	BCL3	chr4:8029834-8030570	GM12878	blood:	n/a	n/a
3	BCL3	chr4:8038912-8039504	GM12878	blood:	n/a	n/a
4	BCL3	chr4:8039082-8039561	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:8023606-8023917	A549	lung:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
6	BHLHE40	chr4:8023530-8024019	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
7	BHLHE40	chr4:8023560-8023959	K562	blood:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
8	BHLHE40	chr4:8023583-8023853	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
9	BHLHE40	chr4:8042425-8042692	HepG2	liver:	n/a	n/a
10	BHLHE40	chr4:8042424-8042710	K562	blood:	n/a	n/a
11	BHLHE40	chr4:8023654-8023855	HepG2	liver:	n/a	chr4:8023761-8023770 chr4:8023761-8023770 chr4:8023762-8023771
12	BRCA1	chr4:8030194-8030478	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr4:8034949-8035108	HepG2	liver:	n/a	n/a
14	CTCF	chr4:8023620-8023770	AG09319	gingival:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
15	CTCF	chr4:8023660-8023810	AoAF	blood vessel:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
16	CTCF	chr4:8032220-8032370	HMEC	breast:	n/a	n/a
17	CTCF	chr4:8023640-8023790	SK-N-SH_RA	brain:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
18	CTCF	chr4:8023670-8023791	Medullo	brain:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
19	CTCF	chr4:8023620-8023770	HMEC	breast:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
20	CTCF	chr4:8023640-8023790	HCM	heart:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
21	CTCF	chr4:8047720-8047870	A549	lung:	n/a	n/a
22	CTCF	chr4:8039860-8040010	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr4:8023680-8023830	K562	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
24	CTCF	chr4:8037160-8037310	HCM	heart:	n/a	n/a
25	CTCF	chr4:8023620-8023770	WERI-Rb-1	eye:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
26	CTCF	chr4:8023660-8023810	SK-N-SH_RA	brain:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
27	CTCF	chr4:8023660-8023810	HUVEC	blood vessel:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
28	CTCF	chr4:8047783-8047850	MCF-7	breast:	n/a	n/a
29	CTCF	chr4:8036787-8036833	GM19239	blood:	n/a	n/a
30	CTCF	chr4:8023692-8023777	HepG2	liver:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
31	CTCF	chr4:8023620-8023770	GM12864	blood:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
32	CTCF	chr4:8037349-8037405	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr4:8023640-8023790	HBMEC	blood vessel:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
34	CTCF	chr4:8039826-8039909	GM12891	blood:	n/a	n/a
35	CTCF	chr4:8023578-8023858	IMR90	lung:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
36	CTCF	chr4:8047720-8047870	HepG2	liver:	n/a	n/a
37	CTCF	chr4:8047640-8047790	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr4:8023440-8023590	NHEK	skin:	n/a	n/a
39	CTCF	chr4:8023620-8023828	MCF-7	breast:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
40	CTCF	chr4:8027622-8027663	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr4:8023700-8023850	BE2_C	brain:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
42	CTCF	chr4:8023580-8023730	GM12873	blood:	n/a	chr4:8023721-8023730 chr4:8023717-8023730
43	CTCF	chr4:8023606-8023848	HepG2	liver:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
44	CTCF	chr4:8032240-8032390	NHEK	skin:	n/a	n/a
45	CTCF	chr4:8023720-8023870	HRE	kidney:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023730-8023743
46	CTCF	chr4:8023643-8023824	NHEK	skin:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
47	CTCF	chr4:8023641-8023810	MCF-7	breast:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
48	CTCF	chr4:8047600-8047750	NB4	blood:	n/a	n/a
49	CTCF	chr4:8023600-8023750	HCT-116	colon:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023710-8023731 chr4:8023716-8023732 chr4:8023715-8023733 chr4:8023730-8023743 chr4:8023717-8023730
50	CTCF	chr4:8023720-8023870	HAc	cerebellar:	n/a	chr4:8023721-8023730 chr4:8023720-8023733 chr4:8023730-8023743

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8034100-8034150	NHDF-neo	bronchial:	n/a
2	chr4:8034100-8034150	NT2-D1	testis:	n/a
3	chr4:8034100-8034150	T-47D	breast:	n/a
4	chr4:8024970-8025020	HRCEpiC	kidney:	n/a
5	chr4:8046793-8046843	HepG2	liver:	n/a
6	chr4:8025157-8025207	GM06990	blood:	n/a
7	chr4:8037325-8037375	PrEC	prostate:	n/a
8	chr4:8025039-8025089	GM12891	blood:	n/a
9	chr4:8046793-8046843	T-47D	breast:	n/a
10	chr4:8046793-8046843	GM12891	blood:	n/a
11	chr4:8046793-8046843	NB4	blood:	n/a
12	chr4:8046547-8046597	AG09309	skin:	n/a
13	chr4:8034100-8034150	PFSK-1	brain:	n/a
14	chr4:8025157-8025207	NT2-D1	testis:	n/a
15	chr4:8025157-8025207	NB4	blood:	n/a
16	chr4:8024970-8025020	HRPEpiC	eye:	n/a
17	chr4:8046793-8046843	CMK	blood:	n/a
18	chr4:8034335-8034385	PrEC	prostate:	n/a
19	chr4:8046547-8046597	HRCEpiC	kidney:	n/a
20	chr4:8025039-8025089	U87	brain:	n/a
21	chr4:8046793-8046843	HCPEpiC	choroid plexus:	n/a
22	chr4:8024970-8025020	AG09309	skin:	n/a
23	chr4:8034100-8034150	GM12892	blood:	n/a
24	chr4:8025157-8025207	NH-A	brain:	n/a
25	chr4:8025039-8025089	PFSK-1	brain:	n/a
26	chr4:8025157-8025207	HCF	heart:	n/a
27	chr4:8034100-8034150	PANC-1	pancreas:	n/a
28	chr4:8034335-8034385	AG04450	lung:	fetal
29	chr4:8046547-8046597	PFSK-1	brain:	n/a
30	chr4:8046547-8046597	HUVEC	blood vessel:	n/a
31	chr4:8024970-8025020	HCF	heart:	n/a
32	chr4:8046547-8046597	SK-N-SH_RA	brain:	n/a
33	chr4:8034335-8034385	MCF10A-Er-Src	breast:	n/a
34	chr4:8034335-8034385	HPAEpiC	pulmonary alveolar:	n/a
35	chr4:8037325-8037375	HMEC	breast:	n/a
36	chr4:8025157-8025207	H1-hESC	embryonic stem cell:	embryo
37	chr4:8046793-8046843	SK-N-SH	brain:	n/a
38	chr4:8034335-8034385	NT2-D1	testis:	n/a
39	chr4:8037325-8037375	NH-A	brain:	n/a
40	chr4:8034100-8034150	Caco-2	colon:	n/a
41	chr4:8024970-8025020	HEK293	kidney:	embryo
42	chr4:8034100-8034150	HMEC	breast:	n/a
43	chr4:8025039-8025089	ECC-1	luminal epithelium:	n/a
44	chr4:8025039-8025089	HRPEpiC	eye:	n/a
45	chr4:8034100-8034150	HCM	heart:	n/a
46	chr4:8037325-8037375	Caco-2	colon:	n/a
47	chr4:8046547-8046597	Jurkat	blood:	n/a
48	chr4:8024970-8025020	AG10803	skin:	n/a
49	chr4:8025157-8025207	AG09319	gingival:	n/a
50	chr4:8046793-8046843	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8039157..8040706-chr4:8050002..8052437,2	K562	blood:
2	chr4:8021662..8023195-chr4:8024850..8026832,2	K562	blood:
3	chr4:8033575..8035551-chr4:8063220..8065289,2	K562	blood:
4	chr4:8034585..8036214-chr4:8037779..8039313,2	MCF-7	breast:
5	chr4:8019469..8024052-chr4:8025659..8029825,5	MCF-7	breast:
6	chr4:8027811..8029629-chr4:8031244..8032843,2	K562	blood:
7	chr4:8020482..8023593-chr4:8027718..8031223,3	MCF-7	breast:
8	chr4:8021380..8023890-chr4:8026077..8027621,2	MCF-7	breast:
9	chr4:8030886..8034532-chr4:8039153..8041983,3	MCF-7	breast:
10	chr4:8019333..8020892-chr4:8033325..8035259,2	MCF-7	breast:
11	chr4:8020577..8022876-chr4:8022955..8025277,2	MCF-7	breast:
12	chr4:8034679..8036492-chr4:8044258..8047037,2	K562	blood:
13	chr4:8034679..8036492-chr4:8044258..8047037,2	K562	blood:
14	chr4:8024330..8026063-chr4:8034890..8037450,2	MCF-7	breast:
15	chr4:8030441..8032567-chr4:8033404..8037009,3	K562	blood:
16	chr4:8030886..8034532-chr4:8039153..8041983,3	MCF-7	breast:
17	chr4:8005982..8008973-chr4:8021942..8023511,2	MCF-7	breast:
18	chr4:8034585..8036214-chr4:8037779..8039313,2	MCF-7	breast:
19	chr4:8030441..8032567-chr4:8033404..8037009,3	K562	blood:
20	chr4:8027811..8029629-chr4:8031244..8032843,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC097381.1.1-1	chr4:8024392-8024853	ENSG00000273267.1

Variant related genes	Relation type
ENSG00000273267	TF binding region
ABLIM2	TF binding region
ENSG00000273267	CpG island
ABLIM2	CpG island
ENSG00000163995	chromatin interactions
ENSG00000273267	chromatin interactions
ENSG00000207807	chromatin interactions

Extended variants
information (count: 1324 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1324 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7685070	chr4:8023484-8023485	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71603906	chr4:8023487-8023488	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs145459855	chr4:8023525-8023526	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs551564570	chr4:8023531-8023532	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183678077	chr4:8023566-8023567	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs115604494	chr4:8023569-8023570	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs549126792	chr4:8023570-8023571	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs555906180	chr4:8023647-8023648	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs567636640	chr4:8023669-8023670	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs369509697	chr4:8023686-8023687	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs538186472	chr4:8023696-8023697	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs574034599	chr4:8023705-8023706	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs200669953	chr4:8023765-8023766	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs544638395	chr4:8023772-8023773	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs374018358	chr4:8023799-8023800	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs571549863	chr4:8023802-8023803	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs62290635	chr4:8023825-8023826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs62290636	chr4:8023828-8023829	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566458394	chr4:8023829-8023830	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs533868391	chr4:8023870-8023871	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs188044701	chr4:8023885-8023886	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs191805891	chr4:8023890-8023891	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs184686629	chr4:8023897-8023898	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs138852845	chr4:8023920-8023921	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs190401825	chr4:8023941-8023942	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs181729661	chr4:8024006-8024007	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs76105036	chr4:8024084-8024085	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560261532	chr4:8024145-8024146	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527818287	chr4:8024169-8024170	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527892955	chr4:8024187-8024188	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543087566	chr4:8024213-8024214	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs59410793	chr4:8024230-8024231	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531722930	chr4:8024236-8024237	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549716515	chr4:8024294-8024295	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571628774	chr4:8024309-8024310	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186813849	chr4:8024340-8024341	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547618124	chr4:8024341-8024342	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs58506254	chr4:8024369-8024370	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs115791540	chr4:8024388-8024389	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76391512	chr4:8024391-8024392	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs367987569	chr4:8024407-8024408	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs537845485	chr4:8024413-8024414	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs556169998	chr4:8024419-8024420	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs531171788	chr4:8024439-8024440	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs578012013	chr4:8024465-8024466	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs545310468	chr4:8024476-8024477	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs114685833	chr4:8024482-8024483	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs140619898	chr4:8024500-8024501	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs150399083	chr4:8024514-8024515	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs561444644	chr4:8024546-8024547	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
2	chr4:8012400-8039000	Weak transcription	Gastric	stomach
3	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea
4	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
5	chr4:8014800-8031400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:8016400-8027400	Weak transcription	Aorta	Aorta
7	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
8	chr4:8018800-8027200	Weak transcription	Psoas Muscle	Psoas
9	chr4:8020000-8031400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:8020800-8024000	Strong transcription	Spleen	Spleen
11	chr4:8021800-8025000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:8022000-8037600	Weak transcription	Lung	lung
13	chr4:8022200-8023600	Enhancers	Brain Hippocampus Middle	brain
14	chr4:8022200-8040600	Weak transcription	Fetal Brain Female	brain
15	chr4:8022400-8023800	Enhancers	Brain Cingulate Gyrus	brain
16	chr4:8022400-8023800	Enhancers	Brain Substantia Nigra	brain
17	chr4:8022400-8025600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:8022400-8031000	Weak transcription	Esophagus	oesophagus
19	chr4:8022400-8035400	Weak transcription	Brain Anterior Caudate	brain
20	chr4:8022400-8039000	Weak transcription	Brain Angular Gyrus	brain
21	chr4:8023000-8023600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:8023200-8039600	Weak transcription	Brain Germinal Matrix	brain
23	chr4:8023200-8041000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:8023400-8023600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:8023400-8023800	Bivalent Enhancer	HepG2	liver
26	chr4:8023600-8023800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:8023600-8024000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:8023600-8029200	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:8023800-8024200	Flanking Bivalent TSS/Enh	HepG2	liver
30	chr4:8023800-8025200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:8023800-8037200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:8023800-8041200	Weak transcription	Brain Substantia Nigra	brain
33	chr4:8024000-8027400	Weak transcription	Spleen	Spleen
34	chr4:8025000-8025800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:8025200-8025800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:8025600-8025800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:8025800-8026000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:8025800-8026400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:8025800-8026400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr4:8025800-8026600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr4:8025800-8031800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:8026000-8026200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:8026400-8031000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:8026600-8027600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:8027200-8027800	Strong transcription	Psoas Muscle	Psoas
46	chr4:8027400-8027800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr4:8027400-8028800	Strong transcription	Spleen	Spleen
48	chr4:8027400-8030000	Strong transcription	Aorta	Aorta
49	chr4:8027600-8028200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr4:8027800-8029000	Enhancers	Fetal Muscle Trunk	muscle

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