Variant report

Variant	rs7683991
Chromosome Location	chr4:166008802-166008803
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166006157..166008971-chr4:166032182..166034962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170088	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10021320	0.84[EUR][1000 genomes]
rs10776540	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11731682	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34699234	0.87[AFR][1000 genomes]
rs4538438	0.87[EUR][1000 genomes]
rs4554024	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643773	1.00[MEX][hapmap];0.89[MKK][hapmap]
rs7671851	1.00[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs9999037	1.00[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026152	chr4:165622244-166027447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv537336	chr4:165622244-166027447	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv1835468	chr4:165969625-166023258	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
8	esv1840053	chr4:165969625-166023258	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
9	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv511271	chr4:166000195-166010815	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv1000719	chr4:166000402-166010151	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv1806654	chr4:166003471-166010815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv1830338	chr4:166003471-166010815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv1841293	chr4:166003471-166010815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	esv1847305	chr4:166003471-166010815	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165990800-166026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:165994600-166032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:165995400-166019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:165996000-166019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:165996000-166033000	Weak transcription	Thymus	Thymus
6	chr4:165996600-166009400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:165996800-166032600	Weak transcription	Hela-S3	cervix
8	chr4:165997400-166018600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:165997800-166032400	Weak transcription	Fetal Brain Male	brain
10	chr4:165999000-166009000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:165999000-166022800	Weak transcription	HUVEC	blood vessel
12	chr4:165999000-166023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:165999200-166009000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:165999200-166020600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:165999400-166033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:165999600-166033000	Weak transcription	Osteobl	bone
17	chr4:166000600-166032800	Weak transcription	NHDF-Ad	bronchial
18	chr4:166001000-166009400	Weak transcription	Esophagus	oesophagus
19	chr4:166001200-166020600	Weak transcription	Fetal Heart	heart
20	chr4:166005000-166009800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr4:166005000-166010400	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr4:166005000-166012000	Strong transcription	Fetal Intestine Large	intestine
23	chr4:166005000-166015200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:166005000-166023400	Strong transcription	Fetal Stomach	stomach
25	chr4:166005000-166023600	Strong transcription	Ovary	ovary
26	chr4:166005200-166009600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:166005200-166009600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:166005200-166009600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:166005200-166009800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:166005200-166009800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:166005200-166010000	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:166005200-166010200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:166005200-166010200	Strong transcription	Brain Anterior Caudate	brain
34	chr4:166005200-166010600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr4:166005200-166012000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:166005200-166012000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:166005200-166017000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:166005200-166017600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:166005200-166018600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr4:166005200-166023200	Strong transcription	Fetal Intestine Small	intestine
41	chr4:166005200-166024200	Strong transcription	Liver	Liver
42	chr4:166005400-166009800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:166005400-166010000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr4:166005400-166010000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:166005400-166010200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:166005400-166011000	Strong transcription	Lung	lung
47	chr4:166005400-166016800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:166005600-166010000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:166005600-166010000	Strong transcription	Fetal Brain Female	brain
50	chr4:166005600-166010200	Strong transcription	Adipose Nuclei	Adipose

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