Variant report

Variant	rs10100546
Chromosome Location	chr8:99476643-99476644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr8:99476005-99476670	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99177794..99180485-chr8:99476278..99478549,2	MCF-7	breast:
2	chr8:99343429..99346182-chr8:99476403..99480248,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-748P	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10086870	0.88[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10098835	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10099978	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10100346	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap]
rs10100378	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10100577	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10101919	0.91[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10108828	0.82[JPT][hapmap]
rs10111264	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10441501	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10955174	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10955175	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10955176	0.96[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10955177	0.95[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10955178	0.83[AMR][1000 genomes]
rs10955179	0.81[AMR][1000 genomes]
rs10955180	0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10955181	0.95[CHB][hapmap];0.87[JPT][hapmap];0.80[YRI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10955184	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10955185	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11781352	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11985382	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11994001	0.81[EUR][1000 genomes]
rs12056323	0.88[CEU][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12541026	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12542022	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12542931	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12544768	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12547922	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12548477	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12549563	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12550198	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12677171	0.87[EUR][1000 genomes]
rs13268777	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13270534	0.84[YRI][hapmap]
rs16892236	1.00[CEU][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16897061	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs2001728	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34580087	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3802198	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4130753	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4236853	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4301421	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4332102	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4348458	0.81[EUR][1000 genomes]
rs4370499	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4388428	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4407850	0.87[EUR][1000 genomes]
rs4618666	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4734406	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4734407	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4735564	0.88[CEU][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4995528	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62532757	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6651181	0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6985600	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6991043	0.82[JPT][hapmap]
rs7007360	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7011763	0.86[AMR][1000 genomes]
rs7015739	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815227	0.82[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7845395	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7845750	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9642951	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99461800-99525000	Weak transcription	Psoas Muscle	Psoas
2	chr8:99465000-99478600	Weak transcription	HUVEC	blood vessel
3	chr8:99465200-99478800	Weak transcription	A549	lung
4	chr8:99466800-99477200	Weak transcription	Ovary	ovary
5	chr8:99467000-99478600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:99467200-99478600	Weak transcription	NH-A	brain
7	chr8:99467200-99478600	Weak transcription	NHEK	skin
8	chr8:99472000-99479200	Weak transcription	HSMMtube	muscle
9	chr8:99472200-99478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:99472400-99477400	Weak transcription	Placenta	Placenta
11	chr8:99472400-99479000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:99472400-99479000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:99474000-99479200	Weak transcription	Fetal Lung	lung
14	chr8:99474200-99478600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:99474600-99478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:99475200-99481000	Enhancers	NHDF-Ad	bronchial
17	chr8:99475800-99478000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:99476000-99477000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:99476000-99477200	Enhancers	NHLF	lung
20	chr8:99476000-99477400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:99476000-99477400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:99476000-99477600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:99476000-99477600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:99476200-99477400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:99476200-99477400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:99476200-99477600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:99476200-99477600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:99476200-99477600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:99476400-99477000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:99476400-99477600	Enhancers	Fetal Heart	heart
31	chr8:99476600-99478600	Weak transcription	HSMM	muscle
32	chr8:99476600-99480000	Enhancers	Osteobl	bone

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