Variant report

Variant	rs10131066
Chromosome Location	chr14:45551246-45551247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10129173	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10131615	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10132389	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10132547	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10132949	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10134071	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10134598	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10135085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10135890	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10136008	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10136855	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10136926	0.83[AMR][1000 genomes]
rs10138272	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10138997	0.84[AFR][1000 genomes]
rs10139998	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10140013	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10140049	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10140108	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10140222	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10140318	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10143806	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10145092	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10145267	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10146395	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10147499	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10149484	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10152101	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1053667	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11157423	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11157424	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11844832	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845088	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11845904	0.83[EUR][1000 genomes]
rs11845956	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11846656	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11847336	0.87[EUR][1000 genomes]
rs11848334	0.83[EUR][1000 genomes]
rs11848799	0.85[EUR][1000 genomes]
rs11849208	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11849583	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11850363	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11851962	0.83[EUR][1000 genomes]
rs11852210	0.83[EUR][1000 genomes]
rs12100842	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17115688	0.83[EUR][1000 genomes]
rs17115703	0.85[EUR][1000 genomes]
rs17115718	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17115787	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17115809	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17115811	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28370281	0.84[AFR][1000 genomes]
rs28448551	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28517769	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28558522	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28572336	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28594810	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28622413	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28637857	0.87[EUR][1000 genomes]
rs28681969	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28695721	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28703636	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28756151	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2899960	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3783702	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3825625	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3825627	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3825628	0.87[EUR][1000 genomes]
rs3825629	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4141578	0.81[ASN][1000 genomes]
rs56706956	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56836063	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57003561	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57129780	0.81[EUR][1000 genomes]
rs57602646	0.87[EUR][1000 genomes]
rs57614513	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57694277	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58013518	0.83[EUR][1000 genomes]
rs58826926	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58920861	0.83[EUR][1000 genomes]
rs59353994	0.87[EUR][1000 genomes]
rs60891427	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61155826	0.87[EUR][1000 genomes]
rs61707578	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6572290	0.83[EUR][1000 genomes]
rs66488071	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66535982	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66662385	0.85[EUR][1000 genomes]
rs67643245	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7145831	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7145870	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7146566	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147644	0.81[ASN][1000 genomes]
rs7147811	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7151557	0.81[EUR][1000 genomes]
rs7153451	0.81[AMR][1000 genomes]
rs7158846	0.85[EUR][1000 genomes]
rs7161603	0.83[AMR][1000 genomes]
rs72474138	0.87[EUR][1000 genomes]
rs72621070	0.81[ASN][1000 genomes]
rs73334104	0.83[EUR][1000 genomes]
rs73334112	0.83[EUR][1000 genomes]
rs73334114	0.83[EUR][1000 genomes]
rs73334131	0.83[EUR][1000 genomes]
rs73334135	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73334148	0.85[EUR][1000 genomes]
rs73334154	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73334157	0.85[EUR][1000 genomes]
rs73334162	0.85[EUR][1000 genomes]
rs73334165	0.85[EUR][1000 genomes]
rs73334172	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73334176	0.85[EUR][1000 genomes]
rs73334913	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73340611	0.87[EUR][1000 genomes]
rs73340622	0.87[EUR][1000 genomes]
rs73340626	0.87[EUR][1000 genomes]
rs73340659	0.84[AFR][1000 genomes]
rs73346336	0.81[EUR][1000 genomes]
rs73346344	0.85[EUR][1000 genomes]
rs73346351	0.87[EUR][1000 genomes]
rs73346360	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73348065	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73348069	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73348075	0.81[ASN][1000 genomes]
rs73348076	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73348079	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73348088	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73348095	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73348285	0.81[ASN][1000 genomes]
rs73348975	0.81[EUR][1000 genomes]
rs73348981	0.83[EUR][1000 genomes]
rs73348987	0.83[EUR][1000 genomes]
rs73349816	1.00[ASN][1000 genomes]
rs73349820	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73349835	0.83[ASN][1000 genomes]
rs73349842	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73349853	0.87[EUR][1000 genomes]
rs73349857	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73349858	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73349868	0.87[EUR][1000 genomes]
rs73350201	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73352233	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73352238	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73352246	0.81[ASN][1000 genomes]
rs73353641	0.92[ASN][1000 genomes]
rs73353644	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73353647	0.95[ASN][1000 genomes]
rs73353650	0.95[ASN][1000 genomes]
rs73353657	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7493246	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7493823	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8006685	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8009193	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs8015453	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8017844	0.84[AFR][1000 genomes]
rs8022008	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8022499	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8022608	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323106	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10131066	RP11-398E10.1	cis	Nerve Tibial	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45465800-45552600	Weak transcription	HMEC	breast
2	chr14:45508400-45552400	Weak transcription	GM12878-XiMat	blood
3	chr14:45508400-45552600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:45509200-45552600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:45509200-45552600	Weak transcription	Aorta	Aorta
6	chr14:45509200-45552600	Weak transcription	Pancreas	Pancrea
7	chr14:45509200-45552800	Weak transcription	Right Ventricle	heart
8	chr14:45509200-45553000	Weak transcription	Gastric	stomach
9	chr14:45516200-45552600	Weak transcription	Thymus	Thymus
10	chr14:45516400-45552600	Weak transcription	NH-A	brain
11	chr14:45516400-45552800	Weak transcription	Fetal Brain Male	brain
12	chr14:45516800-45552600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:45524200-45552600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:45524600-45552400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:45524600-45552600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr14:45524800-45551800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:45524800-45552400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:45524800-45552400	Weak transcription	Dnd41	blood
19	chr14:45524800-45552600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:45524800-45552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:45524800-45552600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:45524800-45552800	Weak transcription	Placenta	Placenta
23	chr14:45524800-45553400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:45525800-45552600	Weak transcription	Brain Angular Gyrus	brain
25	chr14:45526200-45552400	Weak transcription	Primary B cells from cord blood	blood
26	chr14:45526800-45552400	Weak transcription	Brain Anterior Caudate	brain
27	chr14:45527200-45551800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:45528800-45552000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:45529000-45552600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:45529200-45552600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:45533800-45551800	Weak transcription	Fetal Intestine Small	intestine
32	chr14:45535200-45552400	Weak transcription	Brain Hippocampus Middle	brain
33	chr14:45535400-45552600	Weak transcription	HSMM	muscle
34	chr14:45535400-45552600	Weak transcription	Osteobl	bone
35	chr14:45535600-45552400	Weak transcription	Primary T cells from cord blood	blood
36	chr14:45535600-45552600	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:45535600-45552600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:45535600-45553000	Weak transcription	Small Intestine	intestine
39	chr14:45537400-45551600	Weak transcription	A549	lung
40	chr14:45539600-45552600	Weak transcription	Brain Germinal Matrix	brain
41	chr14:45539600-45552600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:45539600-45552600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:45539600-45552600	Weak transcription	Fetal Lung	lung
44	chr14:45539800-45552600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:45539800-45552600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:45540000-45551600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:45540000-45552600	Weak transcription	Fetal Kidney	kidney
48	chr14:45540200-45552000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:45540400-45552600	Weak transcription	Ovary	ovary
50	chr14:45541600-45552600	Weak transcription	Brain Substantia Nigra	brain

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