Variant report

Variant	rs10922247
Chromosome Location	chr1:197490942-197490943
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197485830..197487622-chr1:197488513..197491078,2	MCF-7	breast:
2	chr1:197490412..197490975-chr1:198434677..198435398,2	K562	blood:
3	chr1:197490338..197491289-chr1:197893428..197894214,3	MCF-7	breast:
4	chr1:197490113..197490959-chr1:197837878..197838660,2	K562	blood:
5	chr1:197368966..197369515-chr1:197490435..197490984,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10801605	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10922215	1.00[JPT][hapmap]
rs10922216	0.81[CEU][hapmap];0.88[JPT][hapmap]
rs10922221	0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10922223	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs10922225	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs10922249	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11583319	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11799515	1.00[JPT][hapmap]
rs11802794	1.00[JPT][hapmap]
rs12117045	0.93[CHB][hapmap];0.93[JPT][hapmap]
rs12118913	0.86[ASN][1000 genomes]
rs12128912	0.80[YRI][hapmap]
rs12141028	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs12142127	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12354257	0.87[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs17621130	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1775452	0.88[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap]
rs2042097	0.97[ASN][1000 genomes]
rs2476020	0.88[JPT][hapmap]
rs2477077	0.93[CHB][hapmap];0.93[JPT][hapmap]
rs2488389	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs2494268	0.81[CEU][hapmap];0.88[JPT][hapmap]
rs2759662	0.88[JPT][hapmap]
rs2759663	0.88[JPT][hapmap]
rs2821102	0.81[CEU][hapmap];0.88[JPT][hapmap]
rs2821108	0.80[CEU][hapmap]
rs2821121	0.88[JPT][hapmap]
rs35624964	0.99[ASN][1000 genomes]
rs67236816	0.86[ASN][1000 genomes]
rs7522325	0.80[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521647	chr1:197464448-197529218	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv4010	chr1:197471463-197511397	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197467200-197499000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:197478000-197541200	Weak transcription	Aorta	Aorta
3	chr1:197478600-197491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:197480000-197491000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:197480000-197535800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:197480200-197541200	Weak transcription	Esophagus	oesophagus
7	chr1:197480200-197541200	Weak transcription	Fetal Thymus	thymus
8	chr1:197480400-197541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:197481000-197507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:197481200-197491200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:197481200-197503400	Weak transcription	Primary T cells from cord blood	blood
12	chr1:197481200-197504200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:197481200-197507200	Weak transcription	Dnd41	blood
14	chr1:197481200-197508000	Weak transcription	Left Ventricle	heart
15	chr1:197481200-197513400	Weak transcription	Adipose Nuclei	Adipose
16	chr1:197481400-197503600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:197481400-197529600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:197482000-197508000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:197482000-197508000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:197482200-197491000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:197482200-197495200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:197482200-197507600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:197482200-197507800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:197487800-197536000	Weak transcription	Fetal Lung	lung
25	chr1:197490400-197493800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:197490600-197491600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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