Variant report

Variant	rs10991871
Chromosome Location	chr9:94052618-94052619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1022141	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10512209	1.00[AFR][1000 genomes]
rs10991842	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991844	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991845	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991846	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991847	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991852	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991854	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991856	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991857	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991863	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10991868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991874	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10991876	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10991879	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991883	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991884	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991885	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10991886	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991887	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991892	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10991893	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10991894	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10991895	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10991896	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991897	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991901	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991903	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991904	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991906	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12238387	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907250	1.00[AFR][1000 genomes]
rs16907269	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16907273	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16907280	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16907293	1.00[AFR][1000 genomes]
rs16907311	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907384	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2281922	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292365	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811122	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811124	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851540	1.00[AFR][1000 genomes]
rs4430195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537426	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93983000-94054000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:93984000-94054600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:94011400-94055400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:94019000-94056600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:94019200-94059200	Weak transcription	Spleen	Spleen
6	chr9:94019400-94053400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:94019400-94068200	Weak transcription	Right Ventricle	heart
8	chr9:94024200-94054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:94024400-94054600	Weak transcription	Primary B cells from cord blood	blood
10	chr9:94024800-94059400	Weak transcription	Pancreas	Pancrea
11	chr9:94026000-94054000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr9:94027000-94055000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr9:94028200-94053400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr9:94029400-94080000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:94032600-94055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:94032800-94053200	Weak transcription	Ovary	ovary
17	chr9:94032800-94057000	Weak transcription	Aorta	Aorta
18	chr9:94033800-94096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:94034800-94055000	Weak transcription	Fetal Brain Female	brain
20	chr9:94035400-94064800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:94035800-94055200	Weak transcription	Fetal Heart	heart
22	chr9:94037400-94054600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:94037400-94060200	Weak transcription	NHDF-Ad	bronchial
24	chr9:94038400-94055200	Weak transcription	Adipose Nuclei	Adipose
25	chr9:94039200-94089800	Weak transcription	Esophagus	oesophagus
26	chr9:94039400-94060800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr9:94040600-94056000	Weak transcription	Gastric	stomach
28	chr9:94041000-94055400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:94041600-94054400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:94041600-94059200	Weak transcription	Lung	lung
31	chr9:94042000-94071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:94042200-94055400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:94042400-94055000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:94042400-94055200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr9:94042600-94054400	Weak transcription	Fetal Thymus	thymus
36	chr9:94042600-94054800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:94042600-94055800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr9:94042800-94054800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr9:94043200-94054200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr9:94043600-94055000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr9:94043600-94055000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr9:94043800-94055000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr9:94044000-94056200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr9:94044000-94057200	Weak transcription	Thymus	Thymus
45	chr9:94044800-94053400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:94044800-94054800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:94044800-94058000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:94044800-94060800	Weak transcription	HMEC	breast
49	chr9:94044800-94062800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:94045000-94053200	Weak transcription	Left Ventricle	heart

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