Variant report

Variant	rs12756826
Chromosome Location	chr1:97843251-97843252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11580977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582179	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588048	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12738091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739046	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12740800	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12754968	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2152878	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34011849	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34448971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35398836	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35675942	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35767735	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949947	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4950030	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	nsv546865	chr1:97838887-97874663	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv933115	chr1:97839250-97848477	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97794600-97848200	Weak transcription	Left Ventricle	heart
2	chr1:97802200-97848600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:97805800-97846800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:97818000-97844200	Weak transcription	Osteobl	bone
5	chr1:97820200-97848200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:97823800-97845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:97824000-97846800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:97824200-97846800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:97824200-97848000	Weak transcription	Ovary	ovary
10	chr1:97824400-97855000	Weak transcription	Lung	lung
11	chr1:97827600-97847200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:97828800-97849800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:97829200-97851000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:97829800-97845000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:97830400-97848400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:97830600-97845000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:97831000-97874800	Weak transcription	HSMM	muscle
18	chr1:97832800-97846200	Weak transcription	Primary B cells from cord blood	blood
19	chr1:97832800-97847800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:97832800-97861200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:97833400-97846000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:97833800-97845200	Weak transcription	Dnd41	blood
23	chr1:97837200-97877600	Weak transcription	Adipose Nuclei	Adipose
24	chr1:97839200-97846000	Weak transcription	Fetal Stomach	stomach
25	chr1:97841200-97848400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:97841800-97847600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:97841800-97850000	Weak transcription	HSMMtube	muscle
28	chr1:97842000-97847400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:97842400-97844600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:97843000-97843400	Enhancers	NHEK	skin
31	chr1:97843000-97843600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:97843000-97843600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:97843000-97843600	Enhancers	HMEC	breast
34	chr1:97843000-97843800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:97843000-97844200	Enhancers	NH-A	brain
36	chr1:97843000-97844400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:97843000-97846000	Enhancers	NHLF	lung
38	chr1:97843200-97843400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr1:97843200-97843400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:97843200-97843400	Enhancers	NHDF-Ad	bronchial
41	chr1:97843200-97843600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:97843200-97843600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:97843200-97843600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:97843200-97843600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:97843200-97843600	Enhancers	Spleen	Spleen
46	chr1:97843200-97843800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:97843200-97845600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:97843200-97846200	Strong transcription	Primary T cells from cord blood	blood
49	chr1:97843200-97846600	Strong transcription	Liver	Liver

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