Variant report

Variant	rs562315922
Chromosome Location	chr4:8160531-8160532
allele	G/T
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	E2F6	chr4:8160350-8160717	K562	blood:	n/a	chr4:8160681-8160690
2	MAX	chr4:8160439-8160908	K562	blood:	n/a	n/a
3	ARID3A	chr4:8160518-8160811	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:8160237-8161147	MCF-7	breast:	n/a	n/a
5	MXI1	chr4:8160364-8161021	HepG2	liver:	n/a	n/a
6	NRF1	chr4:8160343-8161019	GM12878	blood:	n/a	chr4:8160745-8160756 chr4:8160742-8160756 chr4:8160745-8160756 chr4:8160745-8160759
7	CCNT2	chr4:8160162-8160844	K562	blood:	n/a	n/a
8	RELA	chr4:8160370-8160988	GM19099	blood:	n/a	n/a
9	TAF1	chr4:8160299-8161140	H1-neurons	neurons:	n/a	n/a
10	ELF1	chr4:8160409-8161252	GM12878	blood:	n/a	chr4:8161191-8161203
11	POLR2A	chr4:8160361-8161047	GM18505	blood:	n/a	n/a
12	POLR2A	chr4:8160316-8161195	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:8160316-8161160	ProgFib	skin:	n/a	n/a
14	PAX5	chr4:8160526-8160805	GM12878	blood:	n/a	n/a
15	SP1	chr4:8160449-8160889	HepG2	liver:	n/a	n/a
16	TBP	chr4:8160328-8160974	H1-hESC	embryonic stem cell:	n/a	n/a
17	PAX5	chr4:8160320-8160865	GM12892	blood:	n/a	n/a
18	CREB1	chr4:8160428-8160928	A549	lung:	n/a	n/a
19	POLR2A	chr4:8160415-8161060	A549	lung:	n/a	n/a
20	ELF1	chr4:8160459-8160894	HepG2	liver:	n/a	n/a
21	EGR1	chr4:8160417-8160876	ECC-1	luminal epithelium:	n/a	chr4:8160746-8160755 chr4:8160586-8160600 chr4:8160716-8160740
22	EGR1	chr4:8160378-8160836	H1-hESC	embryonic stem cell:	n/a	chr4:8160746-8160755 chr4:8160586-8160600 chr4:8160716-8160740
23	POLR2A	chr4:8160529-8160548	GM12878	blood:	n/a	n/a
24	SIX5	chr4:8160466-8160866	GM12878	blood:	n/a	chr4:8160719-8160728 chr4:8160656-8160665 chr4:8160717-8160726
25	YY1	chr4:8160485-8160808	GM12878	blood:	n/a	chr4:8160739-8160753
26	MAX	chr4:8160254-8161361	HepG2	liver:	n/a	n/a
27	ETS1	chr4:8160455-8160844	GM12878	blood:	n/a	chr4:8160716-8160729 chr4:8160715-8160728
28	YY1	chr4:8160451-8160814	HCT-116	colon:	n/a	chr4:8160739-8160753
29	SIX5	chr4:8160524-8160917	K562	blood:	n/a	chr4:8160719-8160728 chr4:8160656-8160665 chr4:8160717-8160726
30	POLR2A	chr4:8160309-8161104	GM19193	blood:	n/a	n/a
31	MXI1	chr4:8160132-8161336	IMR90	lung:	n/a	n/a
32	MYC	chr4:8160453-8160888	MCF10A-Er-Src	breast:	n/a	n/a
33	NRF1	chr4:8160382-8160942	H1-hESC	embryonic stem cell:	n/a	chr4:8160745-8160756 chr4:8160742-8160756 chr4:8160745-8160756 chr4:8160745-8160759
34	CEBPB	chr4:8160447-8160988	HepG2	liver:	n/a	n/a
35	EGR1	chr4:8160452-8160758	GM12878	blood:	n/a	chr4:8160746-8160755 chr4:8160586-8160600 chr4:8160716-8160740
36	POLR2A	chr4:8160256-8161157	H1-neurons	neurons:	n/a	n/a
37	CEBPD	chr4:8160494-8161053	K562	blood:	n/a	n/a
38	CEBPD	chr4:8160506-8160977	HepG2	liver:	n/a	n/a
39	ZBTB7A	chr4:8160454-8160666	K562	blood:	n/a	n/a
40	MXI1	chr4:8160343-8161104	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:8160307-8161381	GM18951	blood:	n/a	n/a
42	YY1	chr4:8160441-8160812	K562	blood:	n/a	chr4:8160739-8160753
43	CEBPB	chr4:8160370-8161059	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr4:8160256-8161422	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr4:8160365-8161225	Gliobla	brain:	n/a	n/a
46	CEBPB	chr4:8160444-8161220	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr4:8160446-8161150	ECC-1	luminal epithelium:	n/a	n/a
48	MAX	chr4:8160342-8160872	K562	blood:	n/a	n/a
49	HEY1	chr4:8160371-8160600	HepG2	liver:	n/a	n/a
50	MYC	chr4:8160529-8160616	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8158369..8164233-chr4:8200767..8204083,4	MCF-7	breast:

Variant related genes	Relation type
ABLIM2	TF binding region
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv878592	chr4:8105399-8163560	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	esv3357410	chr4:8159277-8161825	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8158600-8162000	Active TSS	Psoas Muscle	Psoas
2	chr4:8158800-8161200	Active TSS	Brain Angular Gyrus	brain
3	chr4:8159200-8161200	Active TSS	HSMM	muscle
4	chr4:8159200-8161600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:8159200-8162000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr4:8159400-8161000	Active TSS	HSMMtube	muscle
7	chr4:8159400-8161600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:8159400-8161600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr4:8159400-8161600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr4:8159600-8161000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:8159600-8161200	Active TSS	Aorta	Aorta
12	chr4:8159600-8161200	Bivalent/Poised TSS	HepG2	liver
13	chr4:8159600-8161400	Active TSS	Rectal Smooth Muscle	rectum
14	chr4:8159600-8161600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr4:8159600-8161600	Active TSS	Right Atrium	heart
16	chr4:8159800-8160800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:8159800-8161000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:8159800-8161000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8159800-8161200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:8159800-8161200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:8159800-8161200	Active TSS	Brain Anterior Caudate	brain
22	chr4:8159800-8161200	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr4:8159800-8161400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr4:8159800-8161400	Active TSS	Ovary	ovary
25	chr4:8159800-8161600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr4:8159800-8161600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:8159800-8161600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr4:8159800-8161600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr4:8159800-8161600	Active TSS	Hela-S3	cervix
30	chr4:8160000-8160600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr4:8160000-8160800	Weak transcription	Fetal Heart	heart
32	chr4:8160000-8160800	Active TSS	Pancreas	Pancrea
33	chr4:8160000-8161000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:8160000-8161000	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr4:8160000-8161000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:8160000-8161000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:8160000-8161000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr4:8160000-8161000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:8160000-8161000	Active TSS	Esophagus	oesophagus
40	chr4:8160000-8161000	Active TSS	Spleen	Spleen
41	chr4:8160000-8161200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr4:8160000-8161200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:8160000-8161200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:8160000-8161200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:8160000-8161200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
46	chr4:8160000-8161200	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr4:8160000-8161200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr4:8160000-8161200	Active TSS	Brain Substantia Nigra	brain
49	chr4:8160000-8161200	Active TSS	Gastric	stomach
50	chr4:8160000-8161200	Active TSS	Left Ventricle	heart

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