Variant report

Variant	rs10911731
Chromosome Location	chr1:185410292-185410293
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11590359	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6424982	0.84[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap]
rs6690261	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701364	0.84[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.80[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv1001493	chr1:185408956-185436842	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10911731	NPL	cis	cerebellum	SCAN
rs10911731	CD44	trans	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185402400-185410800	Weak transcription	Left Ventricle	heart
2	chr1:185407000-185412000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:185407200-185410600	Weak transcription	HUVEC	blood vessel
4	chr1:185407400-185412200	Weak transcription	Right Atrium	heart
5	chr1:185407600-185411400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:185407800-185410400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:185407800-185410600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:185407800-185411000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:185407800-185411400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:185407800-185411600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:185407800-185411600	Enhancers	Hela-S3	cervix
12	chr1:185407800-185411800	Enhancers	HSMMtube	muscle
13	chr1:185408000-185410800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:185408000-185411200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:185408200-185411200	Enhancers	NHDF-Ad	bronchial
16	chr1:185408200-185411600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:185408200-185411600	Enhancers	Fetal Intestine Large	intestine
18	chr1:185408200-185411600	Enhancers	Fetal Intestine Small	intestine
19	chr1:185408200-185411600	Enhancers	HMEC	breast
20	chr1:185408200-185411600	Enhancers	NHEK	skin
21	chr1:185408200-185411800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:185408200-185411800	Enhancers	Placenta	Placenta
23	chr1:185408200-185412000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr1:185408400-185410400	Enhancers	A549	lung
25	chr1:185408600-185411600	Enhancers	Osteobl	bone
26	chr1:185408800-185410400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:185408800-185410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:185409000-185410400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:185409000-185410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:185409000-185412000	Enhancers	Fetal Heart	heart
31	chr1:185409200-185410400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:185409200-185410400	Weak transcription	HSMM	muscle
33	chr1:185409400-185410400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:185409600-185411600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:185409800-185411000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:185410000-185411800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:185410000-185411800	Enhancers	NH-A	brain
38	chr1:185410200-185411000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:185410200-185411200	Enhancers	Adipose Nuclei	Adipose
40	chr1:185410200-185411400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:185410200-185411400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:185410200-185412400	Enhancers	Fetal Kidney	kidney

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