Variant report

Variant	rs11602596
Chromosome Location	chr11:75067078-75067079
allele	A/T
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	EGR1	chr11:75066970-75067202	K562	blood:	n/a	chr11:75067113-75067126 chr11:75067114-75067125 chr11:75067112-75067127
2	EGR1	chr11:75066960-75067233	K562	blood:	n/a	chr11:75067113-75067126 chr11:75067114-75067125 chr11:75067112-75067127

No.	Distal block	Cell Line	Cell type
1	chr11:75061810..75065838-chr11:75066153..75069996,4	MCF-7	breast:
2	chr11:75011382..75013616-chr11:75065384..75067528,2	MCF-7	breast:
3	chr11:75060264..75064517-chr11:75067052..75070249,4	MCF-7	breast:
4	chr11:75065936..75068463-chr11:75068645..75070545,2	K562	blood:

Variant related genes	Relation type
ARRB1	TF binding region
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10899087	0.95[ASN][1000 genomes]
rs11236397	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236398	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11236401	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236405	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11236416	0.88[AMR][1000 genomes]
rs11605734	0.82[AMR][1000 genomes]
rs12269895	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270766	0.88[AMR][1000 genomes]
rs12271518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271945	0.88[AMR][1000 genomes]
rs12278108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283536	0.82[AMR][1000 genomes]
rs12291595	0.88[AMR][1000 genomes]
rs12577286	0.95[ASN][1000 genomes]
rs12790302	0.82[AMR][1000 genomes]
rs12794577	0.88[AMR][1000 genomes]
rs12797588	0.95[ASN][1000 genomes]
rs34530827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775308	0.82[AMR][1000 genomes]
rs4121885	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7101921	0.85[AMR][1000 genomes]
rs7116977	0.85[AMR][1000 genomes]
rs7120396	0.85[AMR][1000 genomes]
rs7131065	0.82[AMR][1000 genomes]
rs73004237	0.85[AMR][1000 genomes]
rs7929742	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 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	chr11:75063400-75067600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:75063600-75076800	Weak transcription	Hela-S3	cervix
3	chr11:75063800-75067400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:75064000-75067400	Weak transcription	HSMM	muscle
5	chr11:75064000-75067600	Weak transcription	HSMMtube	muscle
6	chr11:75064000-75067600	Weak transcription	NHDF-Ad	bronchial
7	chr11:75064200-75067400	Weak transcription	HUVEC	blood vessel
8	chr11:75064200-75067600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:75064200-75067600	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:75064200-75068200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:75064200-75068600	Weak transcription	Small Intestine	intestine
12	chr11:75064200-75086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:75064400-75067600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:75064400-75067600	Weak transcription	Spleen	Spleen
15	chr11:75064600-75071800	Weak transcription	Primary B cells from cord blood	blood
16	chr11:75065400-75067200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:75066600-75076000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:75066800-75067200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:75066800-75067200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:75067000-75067200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr11:75067000-75068000	Enhancers	Primary T cells from cord blood	blood
22	chr11:75067000-75068000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr11:75067000-75068000	Enhancers	HMEC	breast
24	chr11:75067000-75068800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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