Variant report

Variant	rs62243876
Chromosome Location	chr3:46139296-46139297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46133083..46135714-chr3:46137874..46140788,3	K562	blood:
2	chr3:46134509..46136387-chr3:46138174..46140252,2	MCF-7	breast:
3	chr3:46129217..46131683-chr3:46137784..46140762,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10433607	0.93[ASN][1000 genomes]
rs10510747	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1118021	0.86[EUR][1000 genomes]
rs12054287	0.92[EUR][1000 genomes]
rs12486449	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13320534	0.93[ASN][1000 genomes]
rs13434141	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1388602	0.98[ASN][1000 genomes]
rs1491953	0.92[ASN][1000 genomes]
rs1491958	0.91[ASN][1000 genomes]
rs1491960	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1602580	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17078567	0.86[EUR][1000 genomes]
rs17078589	0.84[ASN][1000 genomes]
rs2036295	0.85[EUR][1000 genomes]
rs2133662	0.85[EUR][1000 genomes]
rs2173639	0.86[EUR][1000 genomes]
rs2888512	0.83[ASN][1000 genomes]
rs4447807	0.92[EUR][1000 genomes]
rs4490402	0.87[EUR][1000 genomes]
rs4586860	0.83[ASN][1000 genomes]
rs4682804	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4682805	0.84[ASN][1000 genomes]
rs4682807	0.84[ASN][1000 genomes]
rs4683169	0.83[EUR][1000 genomes]
rs4683174	0.87[EUR][1000 genomes]
rs56800498	0.84[EUR][1000 genomes]
rs59865404	0.80[EUR][1000 genomes]
rs60991632	0.83[EUR][1000 genomes]
rs61066315	0.88[EUR][1000 genomes]
rs61254379	0.82[EUR][1000 genomes]
rs61387489	0.82[ASN][1000 genomes]
rs62242832	0.92[EUR][1000 genomes]
rs62242846	0.84[EUR][1000 genomes]
rs62243869	0.87[EUR][1000 genomes]
rs62243871	0.82[ASN][1000 genomes]
rs62243873	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62243875	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62243906	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6763341	0.85[EUR][1000 genomes]
rs6778958	0.83[ASN][1000 genomes]
rs6807854	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs751625	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7629999	0.83[EUR][1000 genomes]
rs7641151	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7641164	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7643426	0.86[EUR][1000 genomes]
rs880160	0.83[ASN][1000 genomes]
rs9818635	0.82[EUR][1000 genomes]
rs9819396	0.81[ASN][1000 genomes]
rs9819419	0.88[ASN][1000 genomes]
rs9849715	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9851306	0.83[ASN][1000 genomes]
rs9856805	0.84[ASN][1000 genomes]
rs9990060	0.84[ASN][1000 genomes]

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:66 , 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	chr3:46129800-46140000	Enhancers	Fetal Thymus	thymus
4	chr3:46130200-46141200	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:46130600-46143000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:46131400-46152200	Weak transcription	Pancreas	Pancrea
7	chr3:46132000-46140200	Enhancers	Primary hematopoietic stem cells	blood
8	chr3:46136800-46143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:46137000-46139400	Enhancers	GM12878-XiMat	blood
10	chr3:46137000-46139600	Enhancers	Primary B cells from cord blood	blood
11	chr3:46137000-46139600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:46137200-46139800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr3:46137400-46139400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr3:46137400-46142600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr3:46137600-46139600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:46137600-46140400	Enhancers	Spleen	Spleen
17	chr3:46137600-46141000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr3:46137600-46141200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr3:46138000-46139800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:46138000-46140400	Enhancers	Adipose Nuclei	Adipose
21	chr3:46138000-46140400	Enhancers	NHLF	lung
22	chr3:46138000-46140600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:46138000-46140600	Enhancers	NHDF-Ad	bronchial
24	chr3:46138000-46140800	Enhancers	Placenta	Placenta
25	chr3:46138000-46141000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:46138000-46141200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:46138200-46139600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr3:46138200-46139800	Enhancers	Primary T cells from cord blood	blood
29	chr3:46138200-46140000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr3:46138200-46140400	Enhancers	Colon Smooth Muscle	Colon
31	chr3:46138200-46142800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr3:46138400-46141000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr3:46138600-46139800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:46138600-46140400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:46138600-46140400	Enhancers	Colonic Mucosa	Colon
36	chr3:46138800-46139400	Flanking Active TSS	Dnd41	blood
37	chr3:46138800-46139400	Enhancers	HepG2	liver
38	chr3:46138800-46139600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:46138800-46139600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr3:46138800-46139800	Enhancers	Fetal Muscle Leg	muscle
41	chr3:46138800-46140400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:46138800-46140400	Enhancers	Stomach Mucosa	stomach
43	chr3:46138800-46140600	Enhancers	Fetal Intestine Small	intestine
44	chr3:46138800-46140600	Enhancers	Hela-S3	cervix
45	chr3:46138800-46140800	Enhancers	Small Intestine	intestine
46	chr3:46138800-46141000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr3:46138800-46141000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr3:46138800-46141000	Enhancers	Fetal Intestine Large	intestine
49	chr3:46138800-46141000	Enhancers	Osteobl	bone
50	chr3:46139000-46140400	Enhancers	Muscle Satellite Cultured Cells	--

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