Variant report

Variant	rs4864607
Chromosome Location	chr4:57782728-57782729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57772971..57776902-chr4:57777481..57784789,10	MCF-7	breast:
2	chr4:57776711..57779494-chr4:57781932..57784622,2	MCF-7	breast:
3	chr4:57773013..57775637-chr4:57781437..57784341,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10008356	0.92[ASN][1000 genomes]
rs10030913	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10866440	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10866441	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1105434	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11730321	0.89[ASN][1000 genomes]
rs11730476	0.89[ASN][1000 genomes]
rs11730525	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11734953	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11736192	0.87[ASN][1000 genomes]
rs11736869	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11736965	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11737689	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11933908	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11941568	0.88[EUR][1000 genomes]
rs12500454	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12501224	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12501990	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12502076	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13108245	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13113802	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13116564	0.96[ASN][1000 genomes]
rs13119525	0.85[EUR][1000 genomes]
rs13131605	0.84[ASN][1000 genomes]
rs13136432	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13146960	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13149162	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150593	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13152476	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13353552	0.95[ASN][1000 genomes]
rs1877669	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1963666	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2002153	0.93[ASN][1000 genomes]
rs2014870	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2090962	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228991	0.80[ASN][1000 genomes]
rs3000	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34124552	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34448457	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35267092	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3796528	0.80[ASN][1000 genomes]
rs3806745	0.89[ASN][1000 genomes]
rs4276341	0.96[ASN][1000 genomes]
rs4864606	0.99[ASN][1000 genomes]
rs4864608	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4865156	0.89[ASN][1000 genomes]
rs4865157	0.92[ASN][1000 genomes]
rs4865158	0.91[ASN][1000 genomes]
rs4865159	0.93[ASN][1000 genomes]
rs4865160	0.93[ASN][1000 genomes]
rs55822707	0.99[ASN][1000 genomes]
rs56122758	0.90[ASN][1000 genomes]
rs62308110	0.89[ASN][1000 genomes]
rs62308111	0.89[ASN][1000 genomes]
rs62308135	0.99[ASN][1000 genomes]
rs62308136	0.99[ASN][1000 genomes]
rs62308137	0.98[ASN][1000 genomes]
rs62308155	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6554393	0.92[ASN][1000 genomes]
rs6554394	0.92[ASN][1000 genomes]
rs6554397	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6554398	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554399	0.80[ASN][1000 genomes]
rs6816950	0.89[ASN][1000 genomes]
rs6835102	0.89[ASN][1000 genomes]
rs6835108	0.89[ASN][1000 genomes]
rs6838948	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6839845	0.87[ASN][1000 genomes]
rs6840805	0.89[ASN][1000 genomes]
rs6852110	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6854420	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6855212	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6857005	0.89[ASN][1000 genomes]
rs6857226	0.89[ASN][1000 genomes]
rs6858216	0.89[ASN][1000 genomes]
rs71601656	0.83[ASN][1000 genomes]
rs729844	0.96[ASN][1000 genomes]
rs73242609	0.99[ASN][1000 genomes]
rs7666804	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7667302	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7667744	0.88[EUR][1000 genomes]
rs7680734	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7695970	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs899630	0.88[EUR][1000 genomes]
rs899631	0.88[EUR][1000 genomes]
rs899632	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9684742	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers 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 miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57775800-57786200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:57776400-57784000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr4:57776400-57789400	Weak transcription	Right Ventricle	heart
4	chr4:57777000-57784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:57777000-57785400	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr4:57777000-57786400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:57777000-57795800	Weak transcription	A549	lung
8	chr4:57777000-57796600	Weak transcription	Fetal Brain Female	brain
9	chr4:57777000-57797000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:57777200-57793400	Weak transcription	HMEC	breast
11	chr4:57777200-57796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:57777200-57796600	Weak transcription	Aorta	Aorta
13	chr4:57777200-57796800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:57777200-57797200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:57777400-57784600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:57777400-57786200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:57777600-57783200	Weak transcription	Osteobl	bone
18	chr4:57777600-57784000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:57777600-57785800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:57777600-57796000	Weak transcription	Brain Anterior Caudate	brain
21	chr4:57777600-57796000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:57777600-57796600	Weak transcription	Colonic Mucosa	Colon
23	chr4:57777600-57803200	Weak transcription	NHDF-Ad	bronchial
24	chr4:57777600-57805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr4:57778000-57785600	Strong transcription	Fetal Stomach	stomach
27	chr4:57778000-57791800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:57778000-57796000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:57778000-57796000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:57778000-57796600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:57778000-57797000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:57778200-57783000	Weak transcription	Brain Substantia Nigra	brain
33	chr4:57778200-57783000	Weak transcription	K562	blood
34	chr4:57778200-57784000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:57778200-57784000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr4:57778200-57784200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:57778200-57785600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:57778200-57796200	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:57778200-57796800	Weak transcription	NHLF	lung
40	chr4:57778400-57783600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr4:57778400-57784400	Weak transcription	NH-A	brain
42	chr4:57778400-57786200	Weak transcription	HSMM	muscle
43	chr4:57778400-57788600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:57778400-57795400	Weak transcription	HSMMtube	muscle
45	chr4:57778400-57796000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:57778400-57800200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:57778400-57800200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:57778400-57801000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:57778600-57785200	Strong transcription	Fetal Intestine Small	intestine
50	chr4:57778800-57783000	Weak transcription	Primary hematopoietic stem cells	blood

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