Variant report

Variant	rs12278470
Chromosome Location	chr11:75337949-75337950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75336861..75338486-chr11:75486954..75489914,2	K562	blood:
2	chr11:75332696..75337381-chr11:75337684..75342464,5	K562	blood:
3	chr11:75336337..75338355-chr11:75378936..75381064,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171533	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10466734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236470	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236471	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236472	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236474	1.00[AMR][1000 genomes]
rs11236479	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236483	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236484	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11236486	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271835	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275991	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279884	1.00[AMR][1000 genomes]
rs12283587	1.00[AMR][1000 genomes]
rs12283710	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283717	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285410	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291785	1.00[AMR][1000 genomes]
rs57234319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58567299	1.00[AMR][1000 genomes]
rs61343133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7112425	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488441	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488499	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7482924	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75305800-75346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:75317600-75346200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:75326800-75343600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:75327000-75338400	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:75330000-75350800	Weak transcription	Lung	lung
6	chr11:75330200-75356200	Weak transcription	Aorta	Aorta
7	chr11:75334800-75338400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:75334800-75339600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:75334800-75339800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:75335000-75339800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:75335000-75339800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:75335200-75338200	Weak transcription	Fetal Brain Male	brain
13	chr11:75335200-75340200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:75335200-75340200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:75335400-75339000	Weak transcription	Spleen	Spleen
16	chr11:75335400-75339800	Enhancers	HSMMtube	muscle
17	chr11:75335400-75343000	Weak transcription	Fetal Intestine Small	intestine
18	chr11:75335400-75346800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:75336000-75338200	Weak transcription	Fetal Heart	heart
20	chr11:75336000-75343200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:75336200-75338400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:75336400-75338200	Weak transcription	Brain Anterior Caudate	brain
23	chr11:75336600-75338400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:75336600-75338400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:75336600-75338800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:75336600-75338800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:75336600-75339600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:75336600-75339800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:75336800-75339200	Enhancers	NHLF	lung
30	chr11:75336800-75339400	Enhancers	NH-A	brain
31	chr11:75336800-75339400	Enhancers	Osteobl	bone
32	chr11:75336800-75339600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:75336800-75339600	Enhancers	NHDF-Ad	bronchial
34	chr11:75336800-75339800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:75337000-75338000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:75337000-75338200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:75337000-75339600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr11:75337000-75339600	Enhancers	HSMM	muscle
39	chr11:75337200-75338000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:75337200-75338000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:75337200-75338000	Weak transcription	Fetal Brain Female	brain
42	chr11:75337200-75338000	Enhancers	NHEK	skin
43	chr11:75337200-75338200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:75337200-75338200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:75337200-75338400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:75337400-75338000	Enhancers	A549	lung
47	chr11:75337400-75338800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:75337400-75338800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:75337400-75339400	Enhancers	Brain Germinal Matrix	brain
50	chr11:75337400-75339800	Enhancers	Fetal Muscle Leg	muscle

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