Variant report

Variant	rs846914
Chromosome Location	chr1:209860275-209860276
allele	G/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:18)

rs_ID	r²[population]
rs10082248	0.89[ASW][hapmap];0.93[MKK][hapmap]
rs10489341	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11799643	1.00[CHB][hapmap]
rs12040780	1.00[CHB][hapmap]
rs17015095	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17015099	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57606822	0.86[ASN][1000 genomes]
rs60132042	0.86[ASN][1000 genomes]
rs6680324	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73089407	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73089412	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73089418	0.86[ASN][1000 genomes]
rs846907	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs846909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs846911	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs846915	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs860185	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs861762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209849600-209861400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209849800-209862000	Weak transcription	NHLF	lung
3	chr1:209857400-209860600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:209857400-209861400	Weak transcription	HMEC	breast
5	chr1:209858400-209860600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:209858400-209860600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:209858400-209860800	Enhancers	Ovary	ovary
8	chr1:209858800-209862600	Enhancers	Fetal Heart	heart
9	chr1:209858800-209863000	Enhancers	Fetal Stomach	stomach
10	chr1:209858800-209863400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:209859000-209860600	Enhancers	Fetal Lung	lung
12	chr1:209859000-209860800	Enhancers	Fetal Kidney	kidney
13	chr1:209859000-209863200	Enhancers	Right Atrium	heart
14	chr1:209859200-209860400	Enhancers	HSMMtube	muscle
15	chr1:209859200-209862400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:209859200-209862800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:209859200-209863000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:209859200-209863200	Enhancers	Fetal Muscle Leg	muscle
19	chr1:209859400-209861600	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:209859400-209862400	Weak transcription	Stomach Mucosa	stomach
21	chr1:209859400-209862600	Weak transcription	Adipose Nuclei	Adipose
22	chr1:209859400-209863000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:209859400-209866000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:209859600-209861800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:209859600-209861800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:209859600-209861800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:209859600-209861800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:209859600-209862200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:209859600-209862400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:209859600-209862400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:209859600-209866000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:209860000-209860800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:209860200-209860400	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr1:209860200-209860400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:209860200-209860400	Enhancers	Right Ventricle	heart
36	chr1:209860200-209862400	Enhancers	Rectal Smooth Muscle	rectum
37	chr1:209860200-209862800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:209860200-209863600	Enhancers	Left Ventricle	heart

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