Variant report

Variant	rs12362635
Chromosome Location	chr11:86449598-86449599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86445788..86450763-chr11:86452280..86455324,5	K562	blood:
2	chr11:86445700..86450143-chr11:86450733..86453676,4	MCF-7	breast:
3	chr11:86448791..86451707-chr3:161088927..161090762,2	MCF-7	breast:
4	chr11:86415734..86419675-chr11:86447085..86451465,5	MCF-7	breast:
5	chr11:86447300..86456471-chr11:86483287..86490697,27	MCF-7	breast:
6	chr11:86445705..86457398-chr11:86504607..86518485,46	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction
ENSG00000196542	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10898527	0.83[EUR][1000 genomes]
rs10898528	0.83[EUR][1000 genomes]
rs10898531	0.82[EUR][1000 genomes]
rs11234760	0.86[EUR][1000 genomes]
rs11234761	0.86[EUR][1000 genomes]
rs11234765	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234767	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234768	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234769	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11234776	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11234777	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11234778	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11234785	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11602353	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12365944	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12791451	0.85[AMR][1000 genomes]
rs12791740	0.83[EUR][1000 genomes]
rs17758195	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34343472	0.83[EUR][1000 genomes]
rs35781069	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4307742	0.85[AMR][1000 genomes]
rs7108254	0.83[EUR][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	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
4	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
5	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86407000-86451600	Weak transcription	Left Ventricle	heart
2	chr11:86424200-86449800	Weak transcription	Pancreas	Pancrea
3	chr11:86446000-86451600	Enhancers	NHLF	lung
4	chr11:86446000-86451800	Enhancers	HUVEC	blood vessel
5	chr11:86446000-86452000	Enhancers	HSMM	muscle
6	chr11:86446000-86458000	Enhancers	HMEC	breast
7	chr11:86446200-86452000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:86446200-86452000	Enhancers	NH-A	brain
9	chr11:86446200-86452000	Enhancers	Osteobl	bone
10	chr11:86446200-86453200	Enhancers	Fetal Lung	lung
11	chr11:86446400-86455200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:86446600-86452600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:86446600-86453400	Enhancers	Fetal Stomach	stomach
14	chr11:86446800-86450800	Weak transcription	Esophagus	oesophagus
15	chr11:86446800-86455400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:86447000-86450000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:86447200-86450800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:86447200-86451000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:86447400-86450200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:86447400-86451000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:86447400-86455200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:86447600-86451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:86447600-86451600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:86447600-86454200	Enhancers	NHDF-Ad	bronchial
25	chr11:86447800-86453400	Enhancers	Fetal Muscle Leg	muscle
26	chr11:86447800-86453800	Enhancers	Ovary	ovary
27	chr11:86448000-86449600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:86448000-86449800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:86448000-86449800	Enhancers	A549	lung
30	chr11:86448000-86449800	Enhancers	Hela-S3	cervix
31	chr11:86448000-86450000	Enhancers	Rectal Smooth Muscle	rectum
32	chr11:86448000-86451000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:86448000-86452000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:86448200-86450800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:86448200-86451000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:86448200-86451600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:86448200-86452200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:86448200-86454000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:86448400-86450000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:86448400-86451600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:86448400-86454200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:86448400-86456000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:86448600-86451200	Weak transcription	Fetal Brain Male	brain
44	chr11:86448800-86449800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:86448800-86449800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:86448800-86449800	Weak transcription	Lung	lung
47	chr11:86449000-86449800	Weak transcription	HSMMtube	muscle
48	chr11:86449000-86451400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:86449000-86451600	Enhancers	NHEK	skin
50	chr11:86449000-86455000	Enhancers	Stomach Mucosa	stomach

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