Variant report

Variant	rs624183
Chromosome Location	chr11:86377805-86377806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86368500..86371397-chr11:86375081..86378008,3	MCF-7	breast:
2	chr11:86375294..86378539-chr11:86378821..86381383,4	MCF-7	breast:
3	chr11:86377391..86379376-chr11:86389767..86391920,2	MCF-7	breast:
4	chr11:86377275..86378822-chr11:86510108..86512716,2	MCF-7	breast:
5	chr11:86377242..86379292-chr11:86431051..86433926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10792865	0.90[CHB][hapmap]
rs10792872	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2508305	0.85[CHB][hapmap]
rs4319536	0.90[CHB][hapmap]
rs4592448	0.90[CHB][hapmap]
rs493010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503155	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs507211	0.83[AMR][1000 genomes]
rs538058	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs539805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs589887	0.99[ASN][1000 genomes]
rs591060	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597823	0.88[ASN][1000 genomes]
rs601988	0.82[YRI][hapmap]
rs609885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622933	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs648258	0.90[ASN][1000 genomes]
rs661954	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs668753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674053	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs679220	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs688119	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs693817	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9735826	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription 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	9 gene(s)	inside rSNPs	diseases
5	nsv555704	chr11:86344677-86386784	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86362000-86378000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:86366200-86380000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:86366600-86379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:86369800-86379600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:86369800-86379600	Weak transcription	Lung	lung
6	chr11:86369800-86379800	Weak transcription	Brain Anterior Caudate	brain
7	chr11:86369800-86381200	Weak transcription	Pancreas	Pancrea
8	chr11:86369800-86382000	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:86370000-86382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:86370400-86379600	Weak transcription	Fetal Brain Female	brain
11	chr11:86370600-86379400	Weak transcription	Fetal Brain Male	brain
12	chr11:86371200-86380800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:86371400-86378600	Weak transcription	Osteobl	bone
14	chr11:86371400-86379600	Weak transcription	Right Atrium	heart
15	chr11:86371400-86381000	Weak transcription	HUVEC	blood vessel
16	chr11:86371400-86381000	Weak transcription	NHLF	lung
17	chr11:86371400-86381200	Weak transcription	Stomach Mucosa	stomach
18	chr11:86371400-86381400	Weak transcription	HSMM	muscle
19	chr11:86371600-86380800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:86371800-86378600	Weak transcription	Fetal Lung	lung
21	chr11:86372400-86381200	Weak transcription	NHDF-Ad	bronchial
22	chr11:86372800-86379600	Weak transcription	Brain Angular Gyrus	brain
23	chr11:86373000-86381200	Weak transcription	Primary T cells from cord blood	blood
24	chr11:86373000-86381200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:86373600-86382000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:86374600-86380200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:86374600-86380200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:86374600-86381200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:86374600-86381200	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:86374800-86381000	Weak transcription	Adipose Nuclei	Adipose
31	chr11:86374800-86381200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:86375800-86379600	Weak transcription	Brain Germinal Matrix	brain
33	chr11:86375800-86380200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:86375800-86380200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:86375800-86382000	Weak transcription	Fetal Intestine Small	intestine
36	chr11:86376000-86378000	Weak transcription	Psoas Muscle	Psoas
37	chr11:86376000-86378400	Enhancers	Fetal Heart	heart
38	chr11:86376000-86380000	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:86376000-86381400	Weak transcription	Small Intestine	intestine
40	chr11:86376000-86382000	Weak transcription	Fetal Intestine Large	intestine
41	chr11:86376200-86378000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:86376200-86378200	Enhancers	HMEC	breast
43	chr11:86376200-86379800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:86376200-86380000	Weak transcription	Ovary	ovary
45	chr11:86376200-86382400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:86376400-86378000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr11:86376400-86380000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:86376600-86378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:86376600-86381000	Weak transcription	Fetal Stomach	stomach
50	chr11:86376800-86378000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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