Variant report

Variant	rs7747182
Chromosome Location	chr6:143973810-143973811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143966000..143968139-chr6:143973368..143975325,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11155318	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11155320	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11962519	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs12530310	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13190772	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13191259	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13204954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13220613	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2051008	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2092762	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2474150	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3924968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4299843	0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4523103	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6570571	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6570573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6913687	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6914940	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6916245	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6931556	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7450663	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7738179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7739094	0.86[JPT][hapmap]
rs7740883	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs7741628	0.86[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7741901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7741998	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7758298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7760178	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7762598	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7764549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7766091	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7770812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7771214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7772898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7773502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs910419	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9321933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9321934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9376773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9376774	0.87[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9376775	0.87[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9376777	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9390127	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9399454	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399456	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9399459	0.87[CHB][hapmap]
rs9403520	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9403522	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9484785	0.91[JPT][hapmap]
rs9484794	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9496712	0.86[JPT][hapmap]
rs9496718	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9496721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9496733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9496734	1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9496735	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1032369	chr6:143925374-144007513	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv604805	chr6:143930404-144005949	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv517253	chr6:143953672-143975157	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143959000-143978400	Weak transcription	Left Ventricle	heart
2	chr6:143964000-143974000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:143969200-143974000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:143969200-143974600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:143969800-143974400	Weak transcription	Placenta	Placenta
6	chr6:143970400-143974200	Weak transcription	Spleen	Spleen
7	chr6:143972800-143974200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:143973000-143980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:143973200-143974600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:143973400-143974000	Enhancers	Stomach Smooth Muscle	stomach
11	chr6:143973400-143974600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:143973600-143974000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:143973600-143974200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:143973600-143974400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:143973600-143974400	Enhancers	Fetal Muscle Leg	muscle
16	chr6:143973600-143974400	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr6:143973600-143974600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:143973600-143974600	Enhancers	Fetal Intestine Large	intestine
19	chr6:143973600-143974600	Enhancers	Stomach Mucosa	stomach
20	chr6:143973600-143974800	Enhancers	Fetal Intestine Small	intestine
21	chr6:143973600-143975000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:143973600-143975000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr6:143973800-143974000	Enhancers	Duodenum Mucosa	Duodenum
24	chr6:143973800-143974200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:143973800-143974200	Enhancers	Colonic Mucosa	Colon
26	chr6:143973800-143974200	Enhancers	Right Atrium	heart
27	chr6:143973800-143974400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:143973800-143974400	Enhancers	Esophagus	oesophagus
29	chr6:143973800-143974400	Enhancers	Fetal Stomach	stomach
30	chr6:143973800-143974400	Enhancers	Gastric	stomach
31	chr6:143973800-143974400	Enhancers	Pancreas	Pancrea
32	chr6:143973800-143974400	Enhancers	Psoas Muscle	Psoas
33	chr6:143973800-143974600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:143973800-143974600	Enhancers	Adipose Nuclei	Adipose
35	chr6:143973800-143974600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:143973800-143974600	Enhancers	Small Intestine	intestine
37	chr6:143973800-143974600	Enhancers	HepG2	liver
38	chr6:143973800-143974600	Enhancers	NHEK	skin
39	chr6:143973800-143974800	Enhancers	Rectal Mucosa Donor 29	rectum

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