Variant report

Variant	rs3814057
Chromosome Location	chr3:119537254-119537255
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119529297..119532483-chr3:119535259..119538181,3	MCF-7	breast:
2	chr3:119535902..119537516-chr3:119539010..119541085,2	MCF-7	breast:
3	chr3:119531331..119533784-chr3:119534969..119537956,2	K562	blood:
4	chr3:119533302..119535583-chr3:119535890..119538879,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144852	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10433404	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10934500	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10934502	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10934503	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11915717	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11917714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12054090	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12108149	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12629015	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12630829	0.82[ASN][1000 genomes]
rs12634476	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12634889	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12635018	0.82[ASN][1000 genomes]
rs12638973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1574154	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16830567	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1732170	0.81[JPT][hapmap]
rs1870931	0.82[ASN][1000 genomes]
rs1980718	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2276707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2873950	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28831519	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3732359	0.95[JPT][hapmap];0.85[TSI][hapmap]
rs3732360	0.95[JPT][hapmap]
rs3732361	0.91[JPT][hapmap]
rs3814058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340737	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4624596	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4688042	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688047	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4688054	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs56728675	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57939147	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58493895	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60389731	0.86[AMR][1000 genomes]
rs60393216	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62264706	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62264708	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62264714	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62264734	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62264739	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62264742	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62264743	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62264747	0.83[ASN][1000 genomes]
rs62264749	0.82[ASN][1000 genomes]
rs6773751	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6782799	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs6784598	0.91[JPT][hapmap]
rs6797459	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6808874	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7431209	0.86[JPT][hapmap]
rs7633279	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7639388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9813864	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119529400-119537800	Strong transcription	Fetal Intestine Small	intestine
2	chr3:119529400-119544000	Weak transcription	Right Atrium	heart
3	chr3:119529400-119566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:119529600-119543400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
6	chr3:119529800-119543600	Weak transcription	GM12878-XiMat	blood
7	chr3:119530200-119542800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:119532000-119543800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:119532400-119551000	Weak transcription	Right Ventricle	heart
10	chr3:119534000-119544800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:119534400-119537400	Strong transcription	Liver	Liver
12	chr3:119534800-119558600	Weak transcription	Colonic Mucosa	Colon
13	chr3:119535000-119544200	Weak transcription	HepG2	liver
14	chr3:119536000-119543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:119536200-119543000	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:119536200-119569000	Weak transcription	Esophagus	oesophagus
17	chr3:119536400-119543200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:119536400-119543400	Weak transcription	HMEC	breast
19	chr3:119536400-119545600	Weak transcription	Left Ventricle	heart
20	chr3:119536400-119570200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:119536600-119537400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:119536600-119543400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:119536600-119543800	Weak transcription	HSMMtube	muscle
24	chr3:119536600-119576000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:119536600-119576400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:119536800-119543200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:119536800-119543600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:119536800-119543600	Weak transcription	HSMM	muscle
29	chr3:119537000-119543000	Weak transcription	Adipose Nuclei	Adipose
30	chr3:119537000-119543200	Weak transcription	Fetal Intestine Large	intestine
31	chr3:119537000-119543600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:119537000-119544800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:119537000-119548200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:119537200-119544600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:119537200-119550600	Weak transcription	Fetal Heart	heart

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