Variant report

Variant	rs12242681
Chromosome Location	chr10:94365693-94365694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:94347834..94349823-chr10:94363699..94366269,2	MCF-7	breast:
2	chr10:94356245..94358486-chr10:94364467..94366056,2	MCF-7	breast:
3	chr10:94349845..94352278-chr10:94364574..94366521,2	K562	blood:
4	chr10:94362535..94365848-chr10:94373113..94374744,3	K562	blood:

Variant related genes	Relation type
ENSG00000184111	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11187083	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187084	0.99[AFR][1000 genomes]
rs11187087	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187100	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187102	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187120	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11597699	0.93[ASN][1000 genomes]
rs11598250	0.91[ASN][1000 genomes]
rs11812310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812813	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11813238	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11816962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11817621	0.98[AFR][1000 genomes]
rs11817798	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818332	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818705	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11818708	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11818750	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11819301	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11819351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12244573	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244924	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12257279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259474	0.99[AFR][1000 genomes]
rs12260688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261518	0.91[AFR][1000 genomes]
rs12261697	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12262781	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12264372	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264712	0.85[AFR][1000 genomes]
rs17107758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107764	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17875340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488058	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2497319	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2497320	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28615450	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28692618	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781236	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604791	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58071219	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58988864	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61011943	0.88[AFR][1000 genomes]
rs6583828	0.83[AFR][1000 genomes]
rs6583829	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6583834	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6583837	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7069680	0.98[AFR][1000 genomes]
rs7076842	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7077137	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7079602	0.94[AFR][1000 genomes]
rs7084441	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085790	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7087860	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7095585	0.83[AFR][1000 genomes]
rs7096520	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311731	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73325701	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7893798	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7898478	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7898506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902436	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7914248	0.98[AFR][1000 genomes]
rs7915915	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917359	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7922902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9731595	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	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	chr10:94353600-94403800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:94354000-94372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:94354000-94420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:94354200-94369000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:94354200-94416000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:94354800-94366000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr10:94354800-94366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:94354800-94373400	Weak transcription	Fetal Intestine Small	intestine
9	chr10:94355000-94366000	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:94355000-94368200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:94355000-94372200	Weak transcription	HSMM	muscle
12	chr10:94355200-94372000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr10:94355600-94366000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:94355600-94368400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr10:94355800-94369000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr10:94355800-94369200	Weak transcription	NH-A	brain
17	chr10:94355800-94369400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr10:94356000-94367600	Weak transcription	Fetal Stomach	stomach
19	chr10:94356800-94366800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr10:94356800-94385600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:94357000-94365800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr10:94357000-94367200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:94358600-94372200	Weak transcription	K562	blood
24	chr10:94359000-94366600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:94361800-94366400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:94361800-94372600	Weak transcription	NHEK	skin
27	chr10:94362000-94366000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr10:94362000-94372600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:94362000-94372600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr10:94362000-94381200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:94362000-94389400	Weak transcription	NHLF	lung
32	chr10:94362000-94399800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:94362200-94366000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:94362400-94365800	Weak transcription	HepG2	liver
35	chr10:94362400-94368600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:94362400-94371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:94362600-94367000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr10:94362600-94376400	Weak transcription	Fetal Lung	lung
39	chr10:94362800-94372200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:94363600-94366200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:94363600-94410200	Weak transcription	Fetal Kidney	kidney
42	chr10:94364000-94390600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr10:94364000-94416400	Strong transcription	Dnd41	blood
44	chr10:94364200-94417400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr10:94364400-94366800	Weak transcription	Hela-S3	cervix
46	chr10:94364400-94368400	Weak transcription	HMEC	breast
47	chr10:94364400-94403800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:94364400-94415200	Weak transcription	Fetal Heart	heart
49	chr10:94364600-94367000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr10:94364600-94369200	Weak transcription	Osteobl	bone

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