Variant report

Variant	rs2786496
Chromosome Location	chr1:98064612-98064613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10783069	0.87[ASN][1000 genomes]
rs10783070	0.87[ASN][1000 genomes]
rs10875098	0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs10875099	0.87[ASN][1000 genomes]
rs10875100	0.87[ASN][1000 genomes]
rs11165895	0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs12122032	0.87[ASN][1000 genomes]
rs1337522	0.83[CHD][hapmap]
rs1337523	0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs2065943	0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs2485436	1.00[ASN][1000 genomes]
rs2786494	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2786508	0.82[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap]
rs2786541	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2811190	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2811192	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2811193	0.83[CHD][hapmap]
rs2811205	0.83[CHD][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2811206	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2811208	1.00[ASN][1000 genomes]
rs2811211	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2811212	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4949958	0.87[ASN][1000 genomes]
rs6663357	0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs6691128	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7537165	0.83[CHD][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830703	chr1:97907708-98101144	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv546866	chr1:98003908-98078993	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv830714	chr1:98025090-98229416	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97999400-98074000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:98002000-98069400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:98007800-98075800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:98009800-98076800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:98009800-98112200	Weak transcription	HSMM	muscle
6	chr1:98041800-98074000	Weak transcription	Aorta	Aorta
7	chr1:98047600-98069000	Weak transcription	NHDF-Ad	bronchial
8	chr1:98048000-98069400	Weak transcription	NHLF	lung
9	chr1:98051600-98076600	Weak transcription	Spleen	Spleen
10	chr1:98051800-98096000	Weak transcription	Left Ventricle	heart
11	chr1:98054000-98069000	Weak transcription	Brain Substantia Nigra	brain
12	chr1:98055200-98065200	Weak transcription	Lung	lung
13	chr1:98057000-98065000	Weak transcription	HMEC	breast
14	chr1:98059000-98069600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:98059200-98069800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:98059200-98070400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:98059600-98076800	Weak transcription	Primary B cells from cord blood	blood
18	chr1:98060000-98066400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:98060000-98087400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:98060200-98065200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:98060600-98069200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:98060800-98092400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:98062000-98065200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:98063000-98111400	Weak transcription	Liver	Liver
25	chr1:98063400-98081000	Weak transcription	Primary T cells from cord blood	blood

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