Variant report

Variant	rs11997995
Chromosome Location	chr8:108306806-108306807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108303036..108307158-chr8:108307598..108310209,4	K562	blood:
2	chr8:108304882..108307212-chr8:108347757..108349335,2	K562	blood:
3	chr8:108305763..108307455-chr8:108312597..108314682,2	K562	blood:
4	chr8:108305514..108307158-chr8:108308709..108310471,2	K562	blood:

Variant related genes	Relation type
ENSG00000154188	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10101176	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes]
rs10108610	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes]
rs10156232	0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs10505102	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955449	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10955450	0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs11774043	0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11775037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11781223	0.90[CHB][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11781621	0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes]
rs13252714	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13257393	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13264444	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13264884	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13266757	0.86[AMR][1000 genomes]
rs13270051	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13273632	0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13278421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13279592	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1368496	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes]
rs1433178	0.95[CHB][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes]
rs16876056	0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes]
rs17296316	0.94[CHB][hapmap];0.80[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17361877	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17368715	0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17368821	0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2043339	0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs2168410	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2436556	0.84[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes]
rs2436562	0.83[AMR][1000 genomes]
rs2445351	0.84[MEX][hapmap]
rs2445353	0.84[MEX][hapmap]
rs2445356	0.89[AMR][1000 genomes]
rs2514850	0.84[MEX][hapmap]
rs2514851	0.89[AMR][1000 genomes]
rs2514853	0.93[AMR][1000 genomes]
rs2514879	0.83[CEU][hapmap]
rs28636468	0.86[AMR][1000 genomes]
rs34248555	0.86[AMR][1000 genomes]
rs34294284	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34540943	0.84[ASN][1000 genomes]
rs34597339	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34954748	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35143736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35855686	0.86[AMR][1000 genomes]
rs4262299	0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4341141	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4341142	0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4354281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4506178	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4595097	0.82[MKK][hapmap]
rs57025371	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62512845	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7000466	0.86[AMR][1000 genomes]
rs7843054	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7846052	0.82[MKK][hapmap]
rs9650029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv916496	chr8:107813722-108338822	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1028726	chr8:107816841-108392547	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv497805	chr8:107852509-108368371	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv891266	chr8:108234516-108307058	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108276600-108327600	Weak transcription	Aorta	Aorta
2	chr8:108278400-108310400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:108282800-108321000	Weak transcription	Psoas Muscle	Psoas
4	chr8:108288800-108307000	Weak transcription	Osteobl	bone
5	chr8:108294200-108315800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:108295200-108307000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:108296200-108308000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:108296600-108323200	Weak transcription	Fetal Kidney	kidney
9	chr8:108299800-108310200	Weak transcription	NHLF	lung
10	chr8:108302200-108309000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:108302800-108307200	Weak transcription	NHDF-Ad	bronchial
12	chr8:108302800-108311400	Strong transcription	K562	blood
13	chr8:108303000-108309000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:108303400-108309200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:108304600-108326400	Weak transcription	Ovary	ovary
16	chr8:108306000-108307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:108306000-108307000	Weak transcription	Adipose Nuclei	Adipose
18	chr8:108306000-108307200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:108306000-108313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:108306200-108310200	Weak transcription	Fetal Lung	lung
21	chr8:108306200-108321000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:108306400-108307600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:108306800-108307200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:108306800-108307600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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