Variant report

Variant	rs11207956
Chromosome Location	chr1:62744954-62744955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10157938	0.88[JPT][hapmap]
rs10465842	0.90[JPT][hapmap]
rs10493318	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889318	0.90[JPT][hapmap]
rs11207955	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031172	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031176	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038843	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12043263	0.98[ASN][1000 genomes]
rs12123763	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127630	0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138544	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555832	0.81[ASN][1000 genomes]
rs17855078	0.90[ASN][1000 genomes]
rs1886834	0.90[JPT][hapmap]
rs1925827	0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs2366207	0.81[EUR][1000 genomes]
rs2666509	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs2765254	0.80[CEU][hapmap]
rs2765266	0.90[JPT][hapmap]
rs2765268	0.90[JPT][hapmap]
rs2765269	0.90[JPT][hapmap]
rs34477066	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35126231	0.81[EUR][1000 genomes]
rs3850629	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs3850632	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3861936	1.00[JPT][hapmap]
rs4915606	0.90[JPT][hapmap]
rs4915607	0.90[JPT][hapmap]
rs6675508	0.90[JPT][hapmap]
rs6680736	0.89[EUR][1000 genomes]
rs6691591	0.89[EUR][1000 genomes]
rs881548	0.90[JPT][hapmap]
rs9803815	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9803854	0.82[ASN][1000 genomes]
rs9804022	0.84[EUR][1000 genomes];1.00[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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62732400-62748400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:62734200-62750800	Weak transcription	Gastric	stomach
3	chr1:62738000-62749000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:62738200-62746400	Weak transcription	Fetal Kidney	kidney
5	chr1:62738200-62751200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:62740200-62746400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:62740400-62745400	Weak transcription	Fetal Lung	lung
8	chr1:62740400-62746600	Weak transcription	Pancreas	Pancrea
9	chr1:62741000-62745000	Weak transcription	HepG2	liver
10	chr1:62743200-62746800	Weak transcription	HMEC	breast
11	chr1:62743200-62747800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:62743400-62746200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:62743400-62746600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:62744000-62746400	Weak transcription	Liver	Liver
15	chr1:62744400-62745200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:62744400-62745400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:62744400-62745600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:62744400-62746200	Enhancers	Fetal Muscle Leg	muscle
19	chr1:62744400-62746400	Enhancers	Fetal Heart	heart
20	chr1:62744600-62745200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:62744600-62745400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr1:62744600-62745400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:62744600-62745400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr1:62744600-62745400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:62744600-62745600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:62744600-62745600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:62744600-62745800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:62744600-62745800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:62744600-62745800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:62744600-62746000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:62744600-62746200	Enhancers	Fetal Muscle Trunk	muscle
32	chr1:62744600-62746200	Enhancers	Placenta	Placenta
33	chr1:62744800-62745000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:62744800-62745400	Weak transcription	Fetal Thymus	thymus
35	chr1:62744800-62746200	Enhancers	Adipose Nuclei	Adipose
36	chr1:62744800-62746400	Enhancers	Fetal Stomach	stomach
37	chr1:62744800-62747600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:62744800-62750800	Weak transcription	Rectal Mucosa Donor 31	rectum

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