Variant report

Variant	rs4640708
Chromosome Location	chr4:186597461-186597462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186593724..186595640-chr4:186595990..186598396,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10003750	0.93[ASN][1000 genomes]
rs10011292	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs10016122	0.85[CEU][hapmap]
rs10019263	0.85[CEU][hapmap]
rs11132338	0.85[CEU][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap]
rs11132339	1.00[CEU][hapmap]
rs1124024	0.85[CEU][hapmap]
rs1542847	0.80[ASN][1000 genomes]
rs1566350	0.85[CEU][hapmap]
rs2030143	0.85[CEU][hapmap]
rs2030144	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap]
rs4376189	0.82[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4407549	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4862561	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4862566	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6820044	0.85[CEU][hapmap]
rs6825114	0.85[CEU][hapmap]
rs6825669	0.85[CEU][hapmap]
rs6826210	0.85[CEU][hapmap]
rs7340885	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap]
rs7688359	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs950590	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh 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	31 gene(s)	inside rSNPs	diseases
4	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186562800-186600000	Weak transcription	Fetal Kidney	kidney
2	chr4:186577800-186604000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:186578800-186598000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:186579000-186598200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:186579000-186600000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:186579000-186602600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:186579200-186602800	Weak transcription	Osteobl	bone
8	chr4:186579200-186603200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:186582000-186598000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:186583000-186602600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:186583200-186598200	Weak transcription	Ovary	ovary
12	chr4:186583200-186603200	Weak transcription	HUVEC	blood vessel
13	chr4:186583400-186600400	Weak transcription	Brain Anterior Caudate	brain
14	chr4:186583400-186607200	Weak transcription	Fetal Intestine Large	intestine
15	chr4:186583800-186599800	Weak transcription	Placenta	Placenta
16	chr4:186583800-186602800	Weak transcription	Esophagus	oesophagus
17	chr4:186583800-186604800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:186584000-186598200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:186584000-186602800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:186587200-186610600	Weak transcription	Lung	lung
21	chr4:186587400-186598200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:186592200-186598200	Weak transcription	Fetal Intestine Small	intestine
23	chr4:186593400-186598200	Weak transcription	Fetal Brain Female	brain
24	chr4:186594200-186598000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:186594400-186598200	Weak transcription	Adipose Nuclei	Adipose
26	chr4:186594400-186598200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:186594400-186604000	Weak transcription	Right Atrium	heart
28	chr4:186595000-186599600	Strong transcription	Liver	Liver
29	chr4:186595200-186598200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:186595200-186599600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:186595200-186606000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:186595800-186598000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:186595800-186599600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:186596400-186598200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:186596600-186598000	Enhancers	Fetal Heart	heart
36	chr4:186596800-186598000	Weak transcription	Aorta	Aorta
37	chr4:186596800-186598000	Weak transcription	Left Ventricle	heart
38	chr4:186596800-186598000	Weak transcription	Pancreas	Pancrea
39	chr4:186596800-186598200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:186596800-186598200	Weak transcription	Fetal Stomach	stomach
41	chr4:186596800-186602800	Weak transcription	Spleen	Spleen
42	chr4:186596800-186606000	Weak transcription	Right Ventricle	heart
43	chr4:186596800-186610600	Weak transcription	Gastric	stomach
44	chr4:186597000-186597800	Weak transcription	HSMMtube	muscle
45	chr4:186597000-186598800	Weak transcription	HSMM	muscle
46	chr4:186597200-186626000	Weak transcription	HepG2	liver
47	chr4:186597400-186598000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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