Variant report

Variant	rs62243875
Chromosome Location	chr3:46134688-46134689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46134509..46136387-chr3:46138174..46140252,2	MCF-7	breast:
2	chr3:46127005..46128993-chr3:46132615..46135304,2	K562	blood:
3	chr3:46133083..46135714-chr3:46137874..46140788,3	K562	blood:

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	0.81[AMR][1000 genomes];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	0.86[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	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62243876	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62243906	0.86[AFR][1000 genomes];0.97[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	0.92[AFR][1000 genomes];0.97[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46127200-46138200	Weak transcription	Primary T cells from cord blood	blood
2	chr3:46129200-46147400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46129400-46154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:46129800-46140000	Enhancers	Fetal Thymus	thymus
5	chr3:46130200-46141200	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:46130600-46143000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:46130800-46135600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:46130800-46135800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:46131400-46137400	Weak transcription	Colonic Mucosa	Colon
10	chr3:46131400-46138000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:46131400-46152200	Weak transcription	Pancreas	Pancrea
12	chr3:46132000-46135800	Enhancers	Dnd41	blood
13	chr3:46132000-46139000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:46132000-46139000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:46132000-46140200	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:46132200-46138000	Weak transcription	NHDF-Ad	bronchial
17	chr3:46132400-46138800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:46132400-46139000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:46132600-46137600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:46132600-46138000	Weak transcription	Adipose Nuclei	Adipose
21	chr3:46133200-46137400	Weak transcription	Placenta	Placenta
22	chr3:46133400-46134800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr3:46133400-46137800	Weak transcription	Small Intestine	intestine
24	chr3:46134200-46134800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr3:46134200-46135200	Flanking Active TSS	GM12878-XiMat	blood
26	chr3:46134400-46134800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr3:46134400-46136200	Enhancers	Primary B cells from cord blood	blood
28	chr3:46134400-46137600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:46134600-46134800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr3:46134600-46135000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr3:46134600-46135000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr3:46134600-46135400	Enhancers	Duodenum Mucosa	Duodenum
33	chr3:46134600-46136600	Enhancers	Spleen	Spleen

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