Variant report

Variant	rs73079783
Chromosome Location	chr4:8240176-8240177
allele	C/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	CTCF	chr4:8240123-8240532	H1-hESC	embryonic stem cell:	n/a	chr4:8240149-8240162 chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
2	CTCF	chr4:8240175-8240564	GM12878	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
3	RAD21	chr4:8240137-8240589	HepG2	liver:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240469-8240479 chr4:8240339-8240353
4	CTCF	chr4:8240040-8240190	GM12870	blood:	n/a	chr4:8240149-8240162
5	CTCF	chr4:8240106-8240585	MCF-7	breast:	n/a	chr4:8240149-8240162 chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
6	RAD21	chr4:8240169-8240594	H1-hESC	embryonic stem cell:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240469-8240479 chr4:8240339-8240353
7	CTCF	chr4:8240021-8240637	A549	lung:	n/a	chr4:8240149-8240162 chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
8	CTCF	chr4:8240017-8240740	SK-N-SH	brain:	n/a	chr4:8240149-8240162 chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
9	POLR2A	chr4:8240128-8240554	GM12878	blood:	n/a	n/a
10	RAD21	chr4:8240174-8240532	IMR90	lung:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240469-8240479 chr4:8240339-8240353
11	YY1	chr4:8240164-8240802	HepG2	liver:	n/a	chr4:8240309-8240320 chr4:8240335-8240349 chr4:8240629-8240643
12	RAD21	chr4:8240142-8240466	SK-N-SH_RA	brain:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240339-8240353
13	CTCF	chr4:8240152-8240616	MCF-7	breast:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
14	POLR2A	chr4:8239437-8241565	GM12878	blood:	n/a	n/a
15	SMC3	chr4:8239728-8240713	SK-N-SH	brain:	n/a	chr4:8240469-8240479 chr4:8240358-8240366 chr4:8240149-8240159 chr4:8240352-8240366
16	YY1	chr4:8240144-8240554	H1-hESC	embryonic stem cell:	n/a	chr4:8240309-8240320 chr4:8240335-8240349
17	RAD21	chr4:8240021-8240626	H1-hESC	embryonic stem cell:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240600-8240612 chr4:8240469-8240479 chr4:8240339-8240353
18	POLR2A	chr4:8240135-8240381	HUVEC	blood vessel:	n/a	n/a
19	GABPA	chr4:8240137-8240602	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr4:8240091-8240511	H1-hESC	embryonic stem cell:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240469-8240479 chr4:8240339-8240353
21	RAD21	chr4:8240148-8240566	HepG2	liver:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240469-8240479 chr4:8240339-8240353
22	CTCF	chr4:8240100-8240250	HAc	cerebellar:	n/a	chr4:8240149-8240162
23	POLR2A	chr4:8239802-8241426	HepG2	liver:	n/a	n/a
24	CTCF	chr4:8240144-8240474	HepG2	liver:	n/a	chr4:8240149-8240162 chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
25	CTCF	chr4:8240161-8240638	K562	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
26	RAD21	chr4:8240004-8240696	SK-N-SH	brain:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240600-8240612 chr4:8240469-8240479 chr4:8240634-8240647 chr4:8240339-8240353
27	CTCF	chr4:8240126-8240561	H1-hESC	embryonic stem cell:	n/a	chr4:8240149-8240162 chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
28	CTCF	chr4:8240162-8240475	K562	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
29	RAD21	chr4:8240158-8240584	MCF-7	breast:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240469-8240479 chr4:8240339-8240353
30	GABPA	chr4:8240144-8240514	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr4:8240123-8240528	ECC-1	luminal epithelium:	n/a	chr4:8240357-8240366 chr4:8240348-8240367 chr4:8240469-8240479 chr4:8240339-8240353

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	chr4:8201531..8203736-chr4:8237028..8240221,3	MCF-7	breast:
6	chr4:8238966..8241301-chr4:8261569..8263591,2	MCF-7	breast:
7	chr4:8183544..8186316-chr4:8238695..8241218,2	MCF-7	breast:
8	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8228400-8240400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:8228400-8240800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:8228400-8243800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:8228800-8244200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:8230600-8243800	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:8230800-8240400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:8230800-8242800	Weak transcription	NHLF	lung
8	chr4:8230800-8244200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:8230800-8244200	Weak transcription	Left Ventricle	heart
10	chr4:8230800-8244200	Weak transcription	Right Atrium	heart
11	chr4:8231000-8241000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr4:8231000-8243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:8231000-8243800	Weak transcription	Brain Angular Gyrus	brain
14	chr4:8232000-8243600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:8232200-8244200	Strong transcription	HUVEC	blood vessel
16	chr4:8232400-8241400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr4:8232800-8241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:8232800-8242000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:8232800-8243800	Strong transcription	Lung	lung
20	chr4:8232800-8244200	Strong transcription	HMEC	breast
21	chr4:8233000-8240200	Strong transcription	Gastric	stomach
22	chr4:8233000-8243400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:8233000-8243800	Strong transcription	Liver	Liver
24	chr4:8233000-8244000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:8233200-8243800	Strong transcription	Fetal Stomach	stomach
26	chr4:8234000-8241800	Strong transcription	Adipose Nuclei	Adipose
27	chr4:8234000-8243200	Strong transcription	Pancreas	Pancrea
28	chr4:8234200-8240400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr4:8234200-8241600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:8234200-8243800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:8234400-8243400	Strong transcription	Right Ventricle	heart
32	chr4:8234600-8243600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:8234800-8241200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:8234800-8241800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:8235800-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:8236000-8244200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:8236200-8240200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:8236200-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:8236200-8243800	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:8236400-8240800	Weak transcription	Fetal Kidney	kidney
41	chr4:8236400-8243600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:8236400-8243800	Weak transcription	Fetal Heart	heart
43	chr4:8236400-8243800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:8236600-8240800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:8236600-8240800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:8236600-8243600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr4:8236600-8243800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:8236600-8243800	Weak transcription	Fetal Lung	lung
49	chr4:8236600-8244200	Weak transcription	Osteobl	bone
50	chr4:8236600-8244400	Weak transcription	Rectal Mucosa Donor 31	rectum

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