Variant report

Variant	rs602126
Chromosome Location	chr11:32911472-32911473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32911083..32916400-chr11:33180278..33184105,5	K562	blood:
2	chr11:32849868..32852880-chr11:32911360..32916794,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247151	Chromatin interaction
ENSG00000135378	Chromatin interaction
ENSG00000176102	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10767973	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10767977	1.00[ASN][1000 genomes]
rs10835991	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835996	1.00[ASN][1000 genomes]
rs10835997	1.00[ASN][1000 genomes]
rs11032058	1.00[ASN][1000 genomes]
rs11032060	1.00[ASN][1000 genomes]
rs11032072	1.00[ASN][1000 genomes]
rs11032073	1.00[ASN][1000 genomes]
rs11032074	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032076	1.00[ASN][1000 genomes]
rs12224002	1.00[ASN][1000 genomes]
rs1961248	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1961543	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2092657	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2249555	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2419783	1.00[ASN][1000 genomes]
rs2746036	1.00[ASN][1000 genomes]
rs2746037	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786800	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786802	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4755476	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4756355	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756373	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756385	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589450	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484610	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652963	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104368	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108574	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109890	1.00[ASN][1000 genomes]
rs7118330	1.00[ASN][1000 genomes]
rs7128509	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73474587	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395190	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7481844	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7481878	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941237	1.00[ASN][1000 genomes]
rs7944318	1.00[ASN][1000 genomes]
rs9919531	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32905800-32913400	Weak transcription	Right Atrium	heart
2	chr11:32906800-32913400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:32907400-32913000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:32908200-32913000	Weak transcription	Liver	Liver
5	chr11:32909200-32912800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:32909400-32912800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:32909400-32912800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:32910000-32912800	Weak transcription	A549	lung
9	chr11:32910000-32913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:32910200-32913800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:32910800-32912800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:32910800-32913200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:32910800-32913400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:32910800-32913400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:32910800-32913400	Weak transcription	HSMMtube	muscle
16	chr11:32911000-32912800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:32911000-32913000	Weak transcription	NH-A	brain
18	chr11:32911000-32913000	Weak transcription	NHDF-Ad	bronchial
19	chr11:32911000-32913000	Weak transcription	NHLF	lung
20	chr11:32911000-32913000	Weak transcription	Osteobl	bone
21	chr11:32911000-32913200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:32911000-32913200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:32911200-32912800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:32911200-32913400	Weak transcription	HSMM	muscle

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