Variant report

Variant	rs12576629
Chromosome Location	chr11:75353668-75353669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr11:75353659-75353775	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINH1-2	chr11:75353645-75353934	NONHSAT023117

Variant related genes	Relation type
ENSG00000254630	TF binding region

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10160335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10160495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279672	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12281880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12574289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574551	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12576145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12576635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577652	0.81[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs12577671	0.82[CHB][hapmap]
rs12577817	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17134189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17134192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17134231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17134235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894210	0.88[EUR][1000 genomes]
rs2009247	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544029	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57777945	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58567299	0.87[ASN][1000 genomes]
rs59533422	0.87[ASN][1000 genomes]
rs60312531	0.83[EUR][1000 genomes]
rs61895119	0.88[EUR][1000 genomes]
rs61895120	0.88[EUR][1000 genomes]
rs61895121	0.88[EUR][1000 genomes]
rs61895122	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61895123	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895125	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61895126	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895128	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895133	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895137	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895139	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895140	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895141	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895142	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61895143	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897960	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111913	0.89[EUR][1000 genomes]
rs7128429	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73488413	0.80[ASN][1000 genomes]
rs73488490	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73488497	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73502466	0.84[EUR][1000 genomes]
rs7482921	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75330200-75356200	Weak transcription	Aorta	Aorta
2	chr11:75351600-75353800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:75351600-75354200	Weak transcription	Fetal Stomach	stomach
4	chr11:75351600-75354600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:75351600-75355200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:75351600-75355200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:75351600-75355200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:75351600-75356200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:75351600-75356400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:75351600-75362000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:75351600-75362000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:75351600-75366600	Weak transcription	Brain Anterior Caudate	brain
13	chr11:75352400-75355200	Enhancers	Fetal Brain Male	brain
14	chr11:75352600-75355400	Enhancers	Fetal Brain Female	brain
15	chr11:75353000-75354600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:75353000-75355000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:75353200-75353800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr11:75353200-75353800	Enhancers	Stomach Smooth Muscle	stomach
19	chr11:75353200-75354000	Enhancers	Rectal Smooth Muscle	rectum
20	chr11:75353400-75354000	Enhancers	Colon Smooth Muscle	Colon
21	chr11:75353400-75356000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:75353600-75353800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:75353600-75353800	Enhancers	Brain Angular Gyrus	brain
24	chr11:75353600-75353800	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:75353600-75353800	Enhancers	Pancreas	Pancrea
26	chr11:75353600-75354000	Enhancers	Brain Hippocampus Middle	brain
27	chr11:75353600-75354000	Enhancers	Brain Substantia Nigra	brain
28	chr11:75353600-75354000	Enhancers	HSMMtube	muscle

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