Variant report

Variant	rs2111392
Chromosome Location	chr3:179423635-179423636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:179369108..179370805-chr3:179422559..179424408,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000058056	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4854947	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4854948	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6805646	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs800368	0.84[EUR][1000 genomes]
rs9833074	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9834881	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9838020	0.84[ASN][1000 genomes]
rs9838032	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][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	nsv4140	chr3:179383961-179429704	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179372600-179425200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:179384800-179425000	Weak transcription	Brain Anterior Caudate	brain
3	chr3:179384800-179428400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:179384800-179443800	Weak transcription	Esophagus	oesophagus
5	chr3:179385000-179439200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:179385000-179448400	Weak transcription	Fetal Brain Male	brain
7	chr3:179391000-179444000	Weak transcription	Pancreas	Pancrea
8	chr3:179391000-179452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:179391400-179426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:179391400-179439200	Weak transcription	NHEK	skin
11	chr3:179391600-179424000	Weak transcription	Hela-S3	cervix
12	chr3:179392600-179425000	Weak transcription	Aorta	Aorta
13	chr3:179397200-179423800	Weak transcription	HSMMtube	muscle
14	chr3:179397800-179439200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:179399000-179426400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr3:179399000-179434000	Weak transcription	A549	lung
17	chr3:179399000-179459800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:179399200-179425000	Weak transcription	Brain Germinal Matrix	brain
19	chr3:179399600-179425000	Weak transcription	Lung	lung
20	chr3:179400000-179424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:179400800-179426800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:179401400-179424200	Weak transcription	Right Ventricle	heart
23	chr3:179402200-179425000	Weak transcription	Thymus	Thymus
24	chr3:179402200-179425200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:179402600-179425000	Weak transcription	Fetal Intestine Large	intestine
26	chr3:179402600-179428600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:179404000-179424000	Weak transcription	HepG2	liver
28	chr3:179404200-179425000	Weak transcription	Placenta	Placenta
29	chr3:179404400-179426600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:179404800-179426600	Weak transcription	GM12878-XiMat	blood
31	chr3:179405800-179429200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:179406000-179425000	Weak transcription	Fetal Brain Female	brain
33	chr3:179406200-179503000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:179406600-179449400	Weak transcription	Spleen	Spleen
35	chr3:179407000-179423800	Weak transcription	NHDF-Ad	bronchial
36	chr3:179407000-179426400	Weak transcription	NHLF	lung
37	chr3:179407000-179426600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:179407000-179428400	Weak transcription	Osteobl	bone
39	chr3:179407000-179431200	Weak transcription	NH-A	brain
40	chr3:179407200-179425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:179407200-179425200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:179407200-179430800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:179407800-179439200	Weak transcription	Brain Angular Gyrus	brain
44	chr3:179408200-179439800	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:179408600-179439400	Weak transcription	Fetal Thymus	thymus
46	chr3:179409000-179424000	Weak transcription	Ovary	ovary
47	chr3:179409000-179425000	Weak transcription	Fetal Intestine Small	intestine
48	chr3:179409800-179424400	Weak transcription	HSMM	muscle
49	chr3:179410000-179426200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:179410200-179424000	Weak transcription	Fetal Heart	heart

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