Variant report

Variant	rs11622499
Chromosome Location	chr14:71711529-71711530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71700024..71702819-chr14:71710024..71711999,2	MCF-7	breast:
2	chr14:71711268..71712852-chr14:71785240..71787299,2	MCF-7	breast:
3	chr14:71710210..71712589-chr14:71742927..71745344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1000448	0.99[ASN][1000 genomes]
rs1000449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158903	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11623541	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11623545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11627275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109189	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4899392	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs56398258	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7149082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71704600-71713200	Weak transcription	Thymus	Thymus
2	chr14:71706800-71711800	Enhancers	Fetal Heart	heart
3	chr14:71706800-71713000	Enhancers	Fetal Muscle Leg	muscle
4	chr14:71707200-71712000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:71707200-71712000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:71707400-71712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:71707600-71712000	Weak transcription	Primary T cells from cord blood	blood
8	chr14:71707600-71712200	Weak transcription	Fetal Thymus	thymus
9	chr14:71707600-71713000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:71707800-71712200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:71708000-71712400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:71708200-71712200	Enhancers	NHDF-Ad	bronchial
13	chr14:71708200-71713400	Weak transcription	NHEK	skin
14	chr14:71708400-71711600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:71708400-71711600	Enhancers	HSMM	muscle
16	chr14:71708600-71712200	Weak transcription	Spleen	Spleen
17	chr14:71708800-71711600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:71709000-71715200	Weak transcription	Fetal Brain Male	brain
19	chr14:71709200-71712200	Enhancers	Osteobl	bone
20	chr14:71709400-71712200	Weak transcription	Right Atrium	heart
21	chr14:71709400-71713200	Weak transcription	HUVEC	blood vessel
22	chr14:71709600-71717800	Weak transcription	Fetal Lung	lung
23	chr14:71709800-71712000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:71709800-71712200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:71710400-71711600	Enhancers	Colon Smooth Muscle	Colon
26	chr14:71710400-71712200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:71710800-71711600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:71710800-71711600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:71711000-71712000	Enhancers	HSMMtube	muscle
30	chr14:71711400-71712600	Weak transcription	Aorta	Aorta

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