Variant report

Variant	rs565972204
Chromosome Location	chr4:8240930-8240931
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	MAX	chr4:8240901-8241415	NB4	blood:	n/a	chr4:8241049-8241059 chr4:8241003-8241013 chr4:8240993-8241003
2	POLR2A	chr4:8240727-8241443	GM12892	blood:	n/a	n/a
3	POLR2A	chr4:8240372-8241118	HepG2	liver:	n/a	n/a
4	CTCF	chr4:8240877-8241057	GM12891	blood:	n/a	chr4:8240914-8240927
5	POU2F2	chr4:8240677-8241367	GM12891	blood:	n/a	chr4:8240943-8240950 chr4:8240942-8240951 chr4:8240941-8240953 chr4:8240941-8240951 chr4:8240940-8240953
6	POLR2A	chr4:8240624-8241223	PFSK-1	brain:	n/a	n/a
7	POU2F2	chr4:8240764-8241147	GM12891	blood:	n/a	chr4:8240943-8240950 chr4:8240942-8240951 chr4:8240941-8240953 chr4:8240941-8240951 chr4:8240940-8240953
8	TCF12	chr4:8240765-8241421	HepG2	liver:	n/a	chr4:8240869-8240877
9	NR2C2	chr4:8240864-8241395	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:8240293-8241314	K562	blood:	n/a	n/a
11	POLR2A	chr4:8239437-8241565	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:8240840-8241361	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:8240860-8241416	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:8240801-8241626	HepG2	liver:	n/a	n/a
15	POLR2A	chr4:8240788-8241560	HUVEC	blood vessel:	n/a	n/a
16	RELA	chr4:8240436-8241128	GM12891	blood:	n/a	chr4:8240669-8240678 chr4:8240669-8240678
17	POLR2A	chr4:8240855-8241409	GM12891	blood:	n/a	n/a
18	POLR2A	chr4:8240898-8241468	GM12891	blood:	n/a	n/a
19	POLR2A	chr4:8239802-8241426	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:8240874-8241521	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:8240890-8241402	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8238966..8241301-chr4:8261569..8263591,2	MCF-7	breast:
2	chr4:8183544..8186316-chr4:8238695..8241218,2	MCF-7	breast:
3	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: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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
20	esv3362193	chr4:8240929-8241097	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region 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	chr4:8228400-8243800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:8228800-8244200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:8230600-8243800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:8230800-8242800	Weak transcription	NHLF	lung
5	chr4:8230800-8244200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:8230800-8244200	Weak transcription	Left Ventricle	heart
7	chr4:8230800-8244200	Weak transcription	Right Atrium	heart
8	chr4:8231000-8241000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:8231000-8243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:8231000-8243800	Weak transcription	Brain Angular Gyrus	brain
11	chr4:8232000-8243600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:8232200-8244200	Strong transcription	HUVEC	blood vessel
13	chr4:8232400-8241400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr4:8232800-8241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:8232800-8242000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:8232800-8243800	Strong transcription	Lung	lung
17	chr4:8232800-8244200	Strong transcription	HMEC	breast
18	chr4:8233000-8243400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:8233000-8243800	Strong transcription	Liver	Liver
20	chr4:8233000-8244000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:8233200-8243800	Strong transcription	Fetal Stomach	stomach
22	chr4:8234000-8241800	Strong transcription	Adipose Nuclei	Adipose
23	chr4:8234000-8243200	Strong transcription	Pancreas	Pancrea
24	chr4:8234200-8241600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:8234200-8243800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:8234400-8243400	Strong transcription	Right Ventricle	heart
27	chr4:8234600-8243600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:8234800-8241200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:8234800-8241800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:8235800-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:8236000-8244200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:8236200-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:8236200-8243800	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:8236400-8243600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:8236400-8243800	Weak transcription	Fetal Heart	heart
36	chr4:8236400-8243800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:8236600-8243600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:8236600-8243800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:8236600-8243800	Weak transcription	Fetal Lung	lung
40	chr4:8236600-8244200	Weak transcription	Osteobl	bone
41	chr4:8236600-8244400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:8236800-8243800	Weak transcription	Brain Anterior Caudate	brain
43	chr4:8237600-8244200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:8238400-8241400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:8238400-8241800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr4:8238600-8241400	Strong transcription	NHEK	skin
47	chr4:8238600-8243800	Weak transcription	HSMM	muscle
48	chr4:8238800-8241200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:8238800-8241400	Genic enhancers	HepG2	liver
50	chr4:8238800-8243800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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