Variant report

Variant	rs4683179
Chromosome Location	chr3:46140394-46140395
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46133083..46135714-chr3:46137874..46140788,3	K562	blood:
2	chr3:46129217..46131683-chr3:46137784..46140762,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12330360	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12629747	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12633951	0.85[ASN][1000 genomes]
rs12636866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1392288	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1463680	1.00[CHB][hapmap]
rs1873001	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2129879	1.00[JPT][hapmap]
rs2133660	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2171528	0.86[JPT][hapmap]
rs2171529	1.00[JPT][hapmap]
rs2276856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3947589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4683165	0.92[EUR][1000 genomes]
rs7372175	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73830757	0.82[ASN][1000 genomes]
rs751667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7612402	1.00[JPT][hapmap]
rs9812655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9817701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9838739	0.95[ASN][1000 genomes]
rs9872121	0.95[ASN][1000 genomes]
rs9875616	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46129200-46147400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:46129400-46154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:46130200-46141200	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:46130600-46143000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:46131400-46152200	Weak transcription	Pancreas	Pancrea
6	chr3:46136800-46143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:46137400-46142600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr3:46137600-46140400	Enhancers	Spleen	Spleen
9	chr3:46137600-46141000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr3:46137600-46141200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:46138000-46140400	Enhancers	Adipose Nuclei	Adipose
12	chr3:46138000-46140400	Enhancers	NHLF	lung
13	chr3:46138000-46140600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:46138000-46140600	Enhancers	NHDF-Ad	bronchial
15	chr3:46138000-46140800	Enhancers	Placenta	Placenta
16	chr3:46138000-46141000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:46138000-46141200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:46138200-46140400	Enhancers	Colon Smooth Muscle	Colon
19	chr3:46138200-46142800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr3:46138400-46141000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr3:46138600-46140400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:46138600-46140400	Enhancers	Colonic Mucosa	Colon
23	chr3:46138800-46140400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:46138800-46140400	Enhancers	Stomach Mucosa	stomach
25	chr3:46138800-46140600	Enhancers	Fetal Intestine Small	intestine
26	chr3:46138800-46140600	Enhancers	Hela-S3	cervix
27	chr3:46138800-46140800	Enhancers	Small Intestine	intestine
28	chr3:46138800-46141000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr3:46138800-46141000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr3:46138800-46141000	Enhancers	Fetal Intestine Large	intestine
31	chr3:46138800-46141000	Enhancers	Osteobl	bone
32	chr3:46139000-46140400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr3:46139000-46140400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr3:46139000-46140400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:46139000-46140400	Enhancers	HSMMtube	muscle
36	chr3:46139000-46140600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:46139000-46140600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:46139000-46140600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:46139000-46140600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:46139000-46140600	Enhancers	HMEC	breast
41	chr3:46139000-46140600	Enhancers	HSMM	muscle
42	chr3:46139000-46140800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:46139000-46140800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr3:46139000-46140800	Enhancers	Thymus	Thymus
45	chr3:46139200-46140800	Enhancers	Duodenum Mucosa	Duodenum
46	chr3:46139200-46150600	Weak transcription	Lung	lung
47	chr3:46139400-46140600	Flanking Active TSS	GM12878-XiMat	blood
48	chr3:46139400-46141000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:46139600-46140400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:46139600-46140800	Flanking Active TSS	Primary B cells from cord blood	blood

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