Variant report

Variant	rs10732976
Chromosome Location	chr1:185409061-185409062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185373749..185376040-chr1:185407434..185409670,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10489481	0.84[AFR][1000 genomes]
rs10798013	0.83[AFR][1000 genomes]
rs10798014	0.82[AFR][1000 genomes]
rs11590380	0.85[AFR][1000 genomes]
rs12039094	0.84[AFR][1000 genomes]
rs12566660	0.84[AFR][1000 genomes]
rs2281415	0.84[AFR][1000 genomes]
rs4650681	0.88[ASN][1000 genomes]
rs4651259	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6687373	0.84[AFR][1000 genomes]
rs6693836	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7364556	0.83[AFR][1000 genomes]
rs7544563	0.85[AFR][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10732976	IVNS1ABP	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185401400-185409600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:185402400-185410800	Weak transcription	Left Ventricle	heart
3	chr1:185406800-185409600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:185407000-185412000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:185407200-185409200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:185407200-185410600	Weak transcription	HUVEC	blood vessel
7	chr1:185407400-185412200	Weak transcription	Right Atrium	heart
8	chr1:185407600-185409400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:185407600-185409600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:185407600-185411400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:185407800-185409600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:185407800-185410200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:185407800-185410400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:185407800-185410600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:185407800-185411000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:185407800-185411400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:185407800-185411600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:185407800-185411600	Enhancers	Hela-S3	cervix
19	chr1:185407800-185411800	Enhancers	HSMMtube	muscle
20	chr1:185408000-185409800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:185408000-185410800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:185408000-185411200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:185408200-185409200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:185408200-185409800	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:185408200-185409800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:185408200-185411200	Enhancers	NHDF-Ad	bronchial
27	chr1:185408200-185411600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:185408200-185411600	Enhancers	Fetal Intestine Large	intestine
29	chr1:185408200-185411600	Enhancers	Fetal Intestine Small	intestine
30	chr1:185408200-185411600	Enhancers	HMEC	breast
31	chr1:185408200-185411600	Enhancers	NHEK	skin
32	chr1:185408200-185411800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:185408200-185411800	Enhancers	Placenta	Placenta
34	chr1:185408200-185412000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:185408400-185409200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:185408400-185409600	Enhancers	GM12878-XiMat	blood
37	chr1:185408400-185409600	Enhancers	NH-A	brain
38	chr1:185408400-185409800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:185408400-185410400	Enhancers	A549	lung
40	chr1:185408600-185409800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr1:185408600-185409800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:185408600-185411600	Enhancers	Osteobl	bone
43	chr1:185408800-185409200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:185408800-185409400	Enhancers	Small Intestine	intestine
45	chr1:185408800-185409600	Enhancers	Thymus	Thymus
46	chr1:185408800-185410400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:185408800-185410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:185409000-185410400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:185409000-185410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:185409000-185412000	Enhancers	Fetal Heart	heart

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