Variant report

Variant	rs760952
Chromosome Location	chr1:209863402-209863403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10082169	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235543	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs760951	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209859400-209866000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:209859600-209866000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:209860200-209863600	Enhancers	Left Ventricle	heart
4	chr1:209861400-209863600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:209861800-209866200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:209861800-209866200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:209861800-209866200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:209861800-209866200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:209862400-209866000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:209862600-209866000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:209862600-209866000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:209862600-209866000	Weak transcription	HSMM	muscle
13	chr1:209862600-209866000	Weak transcription	Osteobl	bone
14	chr1:209862800-209864600	Weak transcription	NHLF	lung
15	chr1:209862800-209864800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:209862800-209865600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:209862800-209867600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:209863000-209863600	Enhancers	Placenta	Placenta
19	chr1:209863000-209863600	Enhancers	A549	lung
20	chr1:209863000-209864600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:209863000-209866000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:209863000-209866000	Weak transcription	Fetal Stomach	stomach
23	chr1:209863000-209866200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:209863200-209864400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:209863200-209864400	Weak transcription	Stomach Mucosa	stomach
26	chr1:209863200-209864400	Weak transcription	NHEK	skin
27	chr1:209863200-209865600	Weak transcription	Small Intestine	intestine
28	chr1:209863200-209866000	Weak transcription	Adipose Nuclei	Adipose
29	chr1:209863200-209866000	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:209863200-209866000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:209863200-209866200	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:209863200-209866200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:209863200-209869600	Weak transcription	Fetal Heart	heart
34	chr1:209863200-209870000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:209863400-209864400	Weak transcription	Fetal Lung	lung
36	chr1:209863400-209864400	Weak transcription	Hela-S3	cervix
37	chr1:209863400-209864600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:209863400-209864600	Weak transcription	HMEC	breast
39	chr1:209863400-209866000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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