Variant report

Variant	rs2292517
Chromosome Location	chr3:111445667-111445668
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11929568	0.90[ASN][1000 genomes]
rs2399395	0.85[ASN][1000 genomes]
rs951338	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591290	chr3:111427455-111462570	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111415200-111454200	Weak transcription	Small Intestine	intestine
2	chr3:111420400-111450600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:111427200-111448400	Weak transcription	Right Ventricle	heart
4	chr3:111427600-111456000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:111428800-111451200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:111429400-111446800	Weak transcription	Fetal Intestine Large	intestine
7	chr3:111431600-111451400	Weak transcription	Gastric	stomach
8	chr3:111432000-111448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:111432000-111448600	Weak transcription	Brain Germinal Matrix	brain
10	chr3:111433800-111447000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:111434000-111451200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr3:111435200-111447800	Weak transcription	HUVEC	blood vessel
13	chr3:111436800-111448400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:111440400-111448400	Weak transcription	Right Atrium	heart
15	chr3:111440800-111451200	Weak transcription	Primary B cells from cord blood	blood
16	chr3:111441400-111448400	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:111441400-111451000	Weak transcription	Fetal Intestine Small	intestine
18	chr3:111441600-111449800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:111441600-111452800	Weak transcription	Placenta	Placenta
20	chr3:111442000-111450000	Weak transcription	Thymus	Thymus
21	chr3:111442000-111452000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:111442000-111454200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:111442400-111456000	Weak transcription	Lung	lung
24	chr3:111442600-111446600	Weak transcription	Fetal Heart	heart
25	chr3:111442600-111448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:111442600-111451200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:111442800-111446800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:111442800-111447200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:111442800-111447200	Weak transcription	NHEK	skin
30	chr3:111442800-111448000	Weak transcription	Hela-S3	cervix
31	chr3:111442800-111448200	Weak transcription	Adipose Nuclei	Adipose
32	chr3:111442800-111448400	Weak transcription	Fetal Stomach	stomach
33	chr3:111442800-111455800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:111443000-111447000	Weak transcription	NH-A	brain
35	chr3:111443000-111447200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:111443000-111447400	Weak transcription	HMEC	breast
37	chr3:111443000-111447400	Weak transcription	HSMM	muscle
38	chr3:111443000-111448000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:111443000-111448400	Weak transcription	Left Ventricle	heart
40	chr3:111443000-111448400	Weak transcription	Ovary	ovary
41	chr3:111443000-111448400	Weak transcription	A549	lung
42	chr3:111443200-111448000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:111443200-111448000	Weak transcription	NHDF-Ad	bronchial
44	chr3:111443200-111448200	Weak transcription	NHLF	lung
45	chr3:111443200-111454800	Weak transcription	Primary T cells from cord blood	blood
46	chr3:111443400-111448000	Weak transcription	Osteobl	bone
47	chr3:111443400-111448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:111443600-111448000	Weak transcription	HSMMtube	muscle
49	chr3:111443800-111448000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:111443800-111448200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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