Variant report

Variant	rs12291580
Chromosome Location	chr11:34846732-34846733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34844808..34847036-chr11:34936903..34938822,2	MCF-7	breast:
2	chr11:34840398..34841965-chr11:34845264..34846905,2	K562	blood:
3	chr11:34809055..34812032-chr11:34846075..34848426,2	K562	blood:
4	chr11:34846502..34848843-chr11:34871445..34873663,2	K562	blood:
5	chr11:34846388..34848890-chr11:34858178..34860592,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110435	Chromatin interaction
ENSG00000149089	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1039841	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10501136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836315	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11032804	0.93[JPT][hapmap]
rs11600128	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11600239	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11602870	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602886	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603640	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11603751	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11605381	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272777	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12278295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293044	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12791769	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12793173	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12794294	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12803664	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12808574	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1377495	0.93[JPT][hapmap]
rs1594425	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1594426	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17293467	0.93[JPT][hapmap]
rs17359064	0.93[JPT][hapmap]
rs1897203	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1949046	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1949048	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2421741	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2421742	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs286893	0.93[JPT][hapmap]
rs2915186	0.81[EUR][1000 genomes]
rs34026463	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34136526	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34191151	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34878924	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34999475	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35264793	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35617374	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35712504	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35833762	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35953213	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818514	0.93[JPT][hapmap]
rs4351790	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4593984	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs473848	0.80[EUR][1000 genomes]
rs473885	0.80[EUR][1000 genomes]
rs508062	0.81[EUR][1000 genomes]
rs512013	0.81[EUR][1000 genomes]
rs523246	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs561477	0.80[EUR][1000 genomes]
rs566798	0.80[EUR][1000 genomes]
rs568529	0.81[EUR][1000 genomes]
rs579926	0.80[EUR][1000 genomes]
rs61881094	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61881097	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61881103	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881104	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881107	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484736	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6484737	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7106579	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7128804	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7131074	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731727	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7925421	0.93[JPT][hapmap]
rs836466	0.85[JPT][hapmap]
rs836950	0.80[EUR][1000 genomes]
rs896856	0.93[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	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34844400-34847800	Enhancers	Brain Angular Gyrus	brain
2	chr11:34844800-34847600	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr11:34844800-34848000	Enhancers	Brain Anterior Caudate	brain
4	chr11:34844800-34848000	Enhancers	Brain Hippocampus Middle	brain
5	chr11:34844800-34848200	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:34844800-34848200	Enhancers	Brain Substantia Nigra	brain
7	chr11:34844800-34849400	Enhancers	Stomach Mucosa	stomach
8	chr11:34845000-34846800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:34845000-34849400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:34845200-34847800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:34845400-34846800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:34845400-34847000	Enhancers	Pancreas	Pancrea
13	chr11:34845400-34847200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:34845400-34848600	Enhancers	Fetal Intestine Large	intestine
15	chr11:34845400-34849400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr11:34845600-34847000	Enhancers	Colonic Mucosa	Colon
17	chr11:34845600-34847200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:34845600-34847600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:34845600-34849000	Weak transcription	Liver	Liver
20	chr11:34845800-34846800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:34846000-34847200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:34846000-34848200	Enhancers	Esophagus	oesophagus
23	chr11:34846000-34848200	Enhancers	Fetal Intestine Small	intestine
24	chr11:34846000-34848400	Enhancers	HMEC	breast
25	chr11:34846000-34849000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:34846200-34848000	Flanking Active TSS	HepG2	liver
27	chr11:34846400-34846800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:34846400-34847000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr11:34846400-34847600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:34846600-34847600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:34846600-34848200	Enhancers	NHEK	skin
32	chr11:34846600-34848400	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:34846600-34848800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:34846600-34848800	Enhancers	K562	blood

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