Variant report

Variant	rs565985955
Chromosome Location	chr4:8240445-8240446
allele	A/G
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	HEY1	chr4:8240326-8240499	HepG2	liver:	n/a	n/a
2	CTCF	chr4:8240400-8240550	GM12864	blood:	n/a	n/a
3	CTCF	chr4:8240300-8240450	GM12869	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
4	CTCF	chr4:8240269-8240489	MCF-7	breast:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
5	CTCF	chr4:8240123-8240532	H1-hESC	embryonic stem cell:	n/a	chr4:8240149-8240162 chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
6	CTCF	chr4:8240175-8240564	GM12878	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
7	SMC3	chr4:8240252-8240540	HepG2	liver:	n/a	chr4:8240469-8240479 chr4:8240358-8240366 chr4:8240352-8240366
8	MXI1	chr4:8240342-8240776	HepG2	liver:	n/a	n/a
9	CTCF	chr4:8240340-8240490	GM06990	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
10	RAD21	chr4:8240137-8240589	HepG2	liver:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240469-8240479 chr4:8240339-8240353
11	CTCF	chr4:8240300-8240450	GM12875	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
12	CTCF	chr4:8240106-8240585	MCF-7	breast:	n/a	chr4:8240149-8240162 chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
13	ARID3A	chr4:8240304-8240605	HepG2	liver:	n/a	n/a
14	CTCF	chr4:8240320-8240470	GM12873	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
15	RAD21	chr4:8240169-8240594	H1-hESC	embryonic stem cell:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240469-8240479 chr4:8240339-8240353
16	HNF4A	chr4:8240291-8240804	HepG2	liver:	n/a	chr4:8240569-8240582 chr4:8240569-8240582 chr4:8240586-8240604 chr4:8240588-8240601 chr4:8240588-8240595 chr4:8240589-8240601 chr4:8240567-8240585 chr4:8240570-8240583 chr4:8240569-8240583 chr4:8240569-8240582 chr4:8240569-8240584 chr4:8240568-8240583 chr4:8240586-8240598 chr4:8240570-8240582 chr4:8240589-8240601 chr4:8240570-8240582 chr4:8240569-8240583 chr4:8240584-8240606 chr4:8240587-8240602 chr4:8240569-8240584 chr4:8240569-8240584 chr4:8240589-8240602 chr4:8240588-8240602 chr4:8240570-8240582 chr4:8240570-8240582 chr4:8240569-8240584
17	MAX	chr4:8240355-8240695	HepG2	liver:	n/a	n/a
18	CTCF	chr4:8240217-8240516	A549	lung:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
19	POLR2A	chr4:8240372-8241118	HepG2	liver:	n/a	n/a
20	CTCF	chr4:8240300-8240450	AG10803	skin:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
21	CTCF	chr4:8240320-8240470	AG04450	lung:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
22	CTCF	chr4:8240021-8240637	A549	lung:	n/a	chr4:8240149-8240162 chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
23	ZNF143	chr4:8240228-8240481	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr4:8240301-8240454	GM20000	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
25	TCF3	chr4:8240291-8240502	GM12878	blood:	n/a	n/a
26	CTCF	chr4:8240279-8240476	MCF-7	breast:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
27	EP300	chr4:8240364-8240720	HepG2	liver:	n/a	n/a
28	HNF4A	chr4:8240227-8240829	HepG2	liver:	n/a	chr4:8240569-8240582 chr4:8240569-8240582 chr4:8240586-8240604 chr4:8240588-8240601 chr4:8240229-8240237 chr4:8240588-8240595 chr4:8240589-8240601 chr4:8240567-8240585 chr4:8240570-8240583 chr4:8240569-8240583 chr4:8240569-8240582 chr4:8240569-8240584 chr4:8240568-8240583 chr4:8240586-8240598 chr4:8240570-8240582 chr4:8240589-8240601 chr4:8240570-8240582 chr4:8240569-8240583 chr4:8240584-8240606 chr4:8240587-8240602 chr4:8240569-8240584 chr4:8240569-8240584 chr4:8240589-8240602 chr4:8240588-8240602 chr4:8240570-8240582 chr4:8240570-8240582 chr4:8240569-8240584
29	CTCF	chr4:8240300-8240450	AG04450	lung:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
30	RAD21	chr4:8240278-8240666	HepG2	liver:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240600-8240612 chr4:8240469-8240479 chr4:8240634-8240647 chr4:8240339-8240353
31	CTCF	chr4:8240017-8240740	SK-N-SH	brain:	n/a	chr4:8240149-8240162 chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
32	CTCF	chr4:8240320-8240470	HA-sp	spinal cord:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
33	CTCF	chr4:8240300-8240450	AG04449	skin:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
34	CTCF	chr4:8240300-8240450	NB4	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
35	CTCF	chr4:8240256-8240501	A549	lung:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
36	EBF1	chr4:8240306-8240650	GM12878	blood:	n/a	chr4:8240466-8240477 chr4:8240467-8240477 chr4:8240467-8240476
37	SMC3	chr4:8240213-8240505	Hela-S3	cervix:	n/a	chr4:8240469-8240479 chr4:8240358-8240366 chr4:8240352-8240366
38	CTCF	chr4:8240400-8240550	HAc	cerebellar:	n/a	n/a
39	POLR2A	chr4:8240128-8240554	GM12878	blood:	n/a	n/a
40	HNF4A	chr4:8240265-8240779	HepG2	liver:	n/a	chr4:8240569-8240582 chr4:8240569-8240582 chr4:8240586-8240604 chr4:8240588-8240601 chr4:8240588-8240595 chr4:8240589-8240601 chr4:8240567-8240585 chr4:8240570-8240583 chr4:8240569-8240583 chr4:8240569-8240582 chr4:8240569-8240584 chr4:8240568-8240583 chr4:8240586-8240598 chr4:8240570-8240582 chr4:8240589-8240601 chr4:8240570-8240582 chr4:8240569-8240583 chr4:8240584-8240606 chr4:8240587-8240602 chr4:8240569-8240584 chr4:8240569-8240584 chr4:8240589-8240602 chr4:8240588-8240602 chr4:8240570-8240582 chr4:8240570-8240582 chr4:8240569-8240584
41	CTCF	chr4:8240320-8240470	SAEC	small airway:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
42	CTCF	chr4:8240265-8240479	GM19240	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
43	CTCF	chr4:8240300-8240450	Caco-2	colon:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
44	EGR1	chr4:8240437-8240626	K562	blood:	n/a	chr4:8240526-8240541 chr4:8240527-8240540
45	MAZ	chr4:8240239-8240448	GM12878	blood:	n/a	n/a
46	CTCF	chr4:8240300-8240450	GM12873	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
47	RAD21	chr4:8240174-8240532	IMR90	lung:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240469-8240479 chr4:8240339-8240353
48	POLR2A	chr4:8240397-8240752	HUVEC	blood vessel:	n/a	n/a
49	RAD21	chr4:8240209-8240468	SK-N-SH_RA	brain:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240339-8240353
50	REST	chr4:8240402-8240713	HepG2	liver:	n/a	chr4:8240456-8240469

No.	Distal block	Cell Line	Cell type
1	chr4:8178298..8179365-chr4:8239616..8240695,4	MCF-7	breast:
2	chr4:8195725..8198126-chr4:8238876..8240631,2	MCF-7	breast:
3	chr4:8189828..8190391-chr4:8240020..8240533,2	MCF-7	breast:
4	chr4:8178683..8179355-chr4:8239861..8240827,2	K562	blood:
5	chr4:8238966..8241301-chr4:8261569..8263591,2	MCF-7	breast:
6	chr4:8183544..8186316-chr4:8238695..8241218,2	MCF-7	breast:
7	chr4:8178131..8179114-chr4:8239846..8240964,9	MCF-7	breast:

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv2763338	chr4:8199091-8260812	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
18	esv3440985	chr4:8238952-8243350	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3437334	chr4:8240102-8242900	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8228400-8240800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:8228400-8243800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:8228800-8244200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:8230600-8243800	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:8230800-8242800	Weak transcription	NHLF	lung
6	chr4:8230800-8244200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:8230800-8244200	Weak transcription	Left Ventricle	heart
8	chr4:8230800-8244200	Weak transcription	Right Atrium	heart
9	chr4:8231000-8241000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:8231000-8243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:8231000-8243800	Weak transcription	Brain Angular Gyrus	brain
12	chr4:8232000-8243600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:8232200-8244200	Strong transcription	HUVEC	blood vessel
14	chr4:8232400-8241400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:8232800-8241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:8232800-8242000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:8232800-8243800	Strong transcription	Lung	lung
18	chr4:8232800-8244200	Strong transcription	HMEC	breast
19	chr4:8233000-8243400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:8233000-8243800	Strong transcription	Liver	Liver
21	chr4:8233000-8244000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:8233200-8243800	Strong transcription	Fetal Stomach	stomach
23	chr4:8234000-8241800	Strong transcription	Adipose Nuclei	Adipose
24	chr4:8234000-8243200	Strong transcription	Pancreas	Pancrea
25	chr4:8234200-8241600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:8234200-8243800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:8234400-8243400	Strong transcription	Right Ventricle	heart
28	chr4:8234600-8243600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:8234800-8241200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:8234800-8241800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:8235800-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:8236000-8244200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:8236200-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:8236200-8243800	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:8236400-8240800	Weak transcription	Fetal Kidney	kidney
36	chr4:8236400-8243600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:8236400-8243800	Weak transcription	Fetal Heart	heart
38	chr4:8236400-8243800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:8236600-8240800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:8236600-8240800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:8236600-8243600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:8236600-8243800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:8236600-8243800	Weak transcription	Fetal Lung	lung
44	chr4:8236600-8244200	Weak transcription	Osteobl	bone
45	chr4:8236600-8244400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr4:8236800-8240600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr4:8236800-8240800	Weak transcription	Brain Substantia Nigra	brain
48	chr4:8236800-8243800	Weak transcription	Brain Anterior Caudate	brain
49	chr4:8237200-8240800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:8237600-8244200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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