Variant report

Variant	rs760951
Chromosome Location	chr1:209861525-209861526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10082169	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10082248	0.81[CHB][hapmap]
rs12565406	0.87[CEU][hapmap]
rs2235543	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753519	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs760952	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs760951	C4BPA	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209849800-209862000	Weak transcription	NHLF	lung
2	chr1:209858800-209862600	Enhancers	Fetal Heart	heart
3	chr1:209858800-209863000	Enhancers	Fetal Stomach	stomach
4	chr1:209858800-209863400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:209859000-209863200	Enhancers	Right Atrium	heart
6	chr1:209859200-209862400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:209859200-209862800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:209859200-209863000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:209859200-209863200	Enhancers	Fetal Muscle Leg	muscle
10	chr1:209859400-209861600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:209859400-209862400	Weak transcription	Stomach Mucosa	stomach
12	chr1:209859400-209862600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:209859400-209863000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:209859400-209866000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:209859600-209861800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:209859600-209861800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:209859600-209861800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:209859600-209861800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:209859600-209862200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:209859600-209862400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:209859600-209862400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:209859600-209866000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:209860200-209862400	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:209860200-209862800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:209860200-209863600	Enhancers	Left Ventricle	heart
26	chr1:209860400-209861600	Enhancers	Primary T cells from cord blood	blood
27	chr1:209860600-209861600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:209860600-209861600	Weak transcription	Fetal Lung	lung
29	chr1:209860600-209862600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:209860600-209862600	Enhancers	HSMM	muscle
31	chr1:209860800-209862400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:209861000-209861800	Enhancers	Placenta	Placenta
33	chr1:209861000-209863200	Enhancers	HSMMtube	muscle
34	chr1:209861200-209863200	Enhancers	Ovary	ovary
35	chr1:209861200-209863400	Enhancers	Hela-S3	cervix
36	chr1:209861400-209861600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:209861400-209861600	Enhancers	Right Ventricle	heart
38	chr1:209861400-209862200	Enhancers	A549	lung
39	chr1:209861400-209862600	Enhancers	Osteobl	bone
40	chr1:209861400-209862800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:209861400-209863200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:209861400-209863200	Enhancers	Psoas Muscle	Psoas
43	chr1:209861400-209863400	Enhancers	HMEC	breast
44	chr1:209861400-209863600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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