Variant report

Variant	rs7127940
Chromosome Location	chr11:72976988-72976989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72976176..72978838-chr11:72980809..72982762,2	K562	blood:
2	chr11:72976089..72978734-chr11:72979551..72981255,3	MCF-7	breast:
3	chr11:72969879..72972349-chr11:72976555..72979179,2	K562	blood:
4	chr11:72974009..72977358-chr11:72978806..72983362,4	MCF-7	breast:
5	chr11:72974580..72977095-chr11:73086644..73089589,3	K562	blood:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction
ENSG00000171631	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10898913	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10898914	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10898915	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235699	1.00[JPT][hapmap]
rs11235701	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235707	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235708	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235709	1.00[ASN][1000 genomes]
rs11235710	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11235711	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11235712	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235713	1.00[ASN][1000 genomes]
rs12276627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363628	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12790447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794405	1.00[ASN][1000 genomes]
rs12801084	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12808111	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1894075	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513476	1.00[ASN][1000 genomes]
rs34023835	1.00[ASN][1000 genomes]
rs34385073	1.00[ASN][1000 genomes]
rs35455220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35963948	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4432047	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6592517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67897720	1.00[ASN][1000 genomes]
rs7103650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114877	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7116594	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123808	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7127179	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7925481	0.83[EUR][1000 genomes]
rs7925649	1.00[JPT][hapmap]
rs7930891	1.00[ASN][1000 genomes]
rs7942649	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs882904	1.00[ASN][1000 genomes]
rs9988805	1.00[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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72975200-72977400	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr11:72975800-72977200	Weak transcription	Lung	lung
3	chr11:72975800-72977200	Weak transcription	Right Ventricle	heart
4	chr11:72975800-72978000	Enhancers	Aorta	Aorta
5	chr11:72975800-72978000	Enhancers	Left Ventricle	heart
6	chr11:72975800-72980600	Weak transcription	Pancreas	Pancrea
7	chr11:72976000-72977000	Enhancers	A549	lung
8	chr11:72976000-72978800	Enhancers	HSMMtube	muscle
9	chr11:72976200-72977000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:72976200-72977200	Weak transcription	Psoas Muscle	Psoas
11	chr11:72976200-72977800	Weak transcription	Spleen	Spleen
12	chr11:72976200-72978600	Enhancers	HSMM	muscle
13	chr11:72976200-72979200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:72976200-72979800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:72976400-72977200	Active TSS	Osteobl	bone
16	chr11:72976400-72977400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:72976400-72978800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:72976400-72979000	Enhancers	Fetal Intestine Small	intestine
19	chr11:72976400-72981200	Enhancers	Placenta	Placenta
20	chr11:72976400-72984800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr11:72976600-72977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:72976800-72977000	Flanking Active TSS	Fetal Heart	heart
23	chr11:72976800-72977800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr11:72976800-72978000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:72976800-72978600	Enhancers	Right Atrium	heart
26	chr11:72976800-72980600	Enhancers	Fetal Intestine Large	intestine
27	chr11:72976800-72980800	Enhancers	Fetal Muscle Trunk	muscle

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