Variant report

Variant	rs10136008
Chromosome Location	chr14:45508635-45508636
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:169)

rs_ID	r²[population]
rs10083439	0.80[EUR][1000 genomes]
rs10129173	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10131066	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10131615	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10132389	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132547	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132949	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134071	0.98[EUR][1000 genomes]
rs10134598	0.85[EUR][1000 genomes]
rs10135085	0.83[EUR][1000 genomes]
rs10135890	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136855	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136926	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10138272	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139998	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140013	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10140049	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10140108	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10140222	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140318	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143806	0.80[EUR][1000 genomes]
rs10145092	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145267	0.88[EUR][1000 genomes]
rs10146395	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10147499	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149484	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150646	0.80[EUR][1000 genomes]
rs10152101	0.92[EUR][1000 genomes]
rs1053667	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11157423	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11157424	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11844832	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11845088	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845904	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11845956	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846656	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847336	0.80[EUR][1000 genomes]
rs11848334	0.90[EUR][1000 genomes]
rs11848799	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11849208	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849583	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850363	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851218	0.80[EUR][1000 genomes]
rs11851516	0.80[EUR][1000 genomes]
rs11851962	0.90[EUR][1000 genomes]
rs11852210	0.90[EUR][1000 genomes]
rs12100842	0.98[EUR][1000 genomes]
rs17115677	0.80[EUR][1000 genomes]
rs17115688	0.90[EUR][1000 genomes]
rs17115703	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17115718	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115787	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17115809	0.80[EUR][1000 genomes]
rs17115811	0.80[EUR][1000 genomes]
rs2295157	0.80[EUR][1000 genomes]
rs28448551	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28517769	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558522	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28572336	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28594810	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28622413	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28637857	0.80[EUR][1000 genomes]
rs28681969	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28695721	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28703636	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28756151	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2899960	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783702	0.80[EUR][1000 genomes]
rs3825627	0.80[EUR][1000 genomes]
rs3825628	0.80[EUR][1000 genomes]
rs3825629	0.94[EUR][1000 genomes]
rs4141578	1.00[ASN][1000 genomes]
rs56706956	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56836063	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57003561	0.80[EUR][1000 genomes]
rs57129780	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57602646	0.80[EUR][1000 genomes]
rs57614513	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57694277	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58013518	0.90[EUR][1000 genomes]
rs58826926	0.80[EUR][1000 genomes]
rs58920861	0.90[EUR][1000 genomes]
rs59353994	0.80[EUR][1000 genomes]
rs59992752	0.80[EUR][1000 genomes]
rs60521816	0.80[EUR][1000 genomes]
rs60891427	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61155826	0.80[EUR][1000 genomes]
rs61707578	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6572290	0.90[EUR][1000 genomes]
rs66488071	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66535982	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66662385	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67643245	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140739	0.80[EUR][1000 genomes]
rs7145831	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7145870	0.92[EUR][1000 genomes]
rs7146566	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7147644	1.00[ASN][1000 genomes]
rs7147811	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7151557	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7153451	0.81[ASN][1000 genomes]
rs7158846	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72474138	0.80[EUR][1000 genomes]
rs72621070	1.00[ASN][1000 genomes]
rs73334104	0.90[EUR][1000 genomes]
rs73334112	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73334114	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73334131	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73334135	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73334148	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73334154	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73334157	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73334162	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73334165	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73334172	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73334176	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73334913	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73340611	0.80[EUR][1000 genomes]
rs73340622	0.80[EUR][1000 genomes]
rs73340626	0.80[EUR][1000 genomes]
rs73346336	0.88[EUR][1000 genomes]
rs73346344	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73346351	0.94[EUR][1000 genomes]
rs73346360	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73348060	0.98[ASN][1000 genomes]
rs73348062	0.95[ASN][1000 genomes]
rs73348065	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73348069	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348075	1.00[ASN][1000 genomes]
rs73348076	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348079	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73348088	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348095	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348285	1.00[ASN][1000 genomes]
rs73348939	0.80[EUR][1000 genomes]
rs73348947	0.80[EUR][1000 genomes]
rs73348950	0.80[EUR][1000 genomes]
rs73348953	0.80[EUR][1000 genomes]
rs73348959	0.80[EUR][1000 genomes]
rs73348966	0.87[EUR][1000 genomes]
rs73348975	0.88[EUR][1000 genomes]
rs73348977	0.85[EUR][1000 genomes]
rs73348981	0.90[EUR][1000 genomes]
rs73348987	0.90[EUR][1000 genomes]
rs73349816	0.81[ASN][1000 genomes]
rs73349820	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73349853	0.80[EUR][1000 genomes]
rs73349857	0.80[EUR][1000 genomes]
rs73349858	0.80[EUR][1000 genomes]
rs73349868	0.80[EUR][1000 genomes]
rs73350007	0.94[ASN][1000 genomes]
rs73350201	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352233	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352238	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352246	1.00[ASN][1000 genomes]
rs73353641	0.83[ASN][1000 genomes]
rs73353644	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73353647	0.86[ASN][1000 genomes]
rs73353650	0.86[ASN][1000 genomes]
rs73353657	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7493246	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7493823	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006685	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8015453	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018380	0.83[ASN][1000 genomes]
rs8022008	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022499	0.80[EUR][1000 genomes]
rs8022608	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323106	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:45465800-45524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:45465800-45552600	Weak transcription	HMEC	breast
4	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
5	chr14:45493000-45535000	Weak transcription	Small Intestine	intestine
6	chr14:45493600-45510600	Weak transcription	NHLF	lung
7	chr14:45498600-45515600	Weak transcription	NH-A	brain
8	chr14:45499200-45523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:45499800-45523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:45501200-45508800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:45501200-45509200	Strong transcription	Primary T cells from cord blood	blood
12	chr14:45501800-45515200	Weak transcription	Osteobl	bone
13	chr14:45502200-45525600	Weak transcription	NHEK	skin
14	chr14:45504800-45510400	Weak transcription	Right Atrium	heart
15	chr14:45505000-45509200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:45505200-45531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:45505600-45509200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:45505800-45509000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr14:45505800-45509000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:45505800-45509000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr14:45505800-45509000	Strong transcription	Brain Cingulate Gyrus	brain
22	chr14:45505800-45509200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:45505800-45509200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr14:45505800-45509200	Strong transcription	Placenta	Placenta
25	chr14:45505800-45509200	Strong transcription	A549	lung
26	chr14:45505800-45509400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr14:45505800-45509400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:45505800-45510200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:45506000-45509000	Strong transcription	Brain Anterior Caudate	brain
30	chr14:45506000-45509000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:45506000-45509200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:45506000-45509200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:45506000-45509200	ZNF genes & repeats	Dnd41	blood
34	chr14:45506200-45508800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:45506200-45509000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr14:45506200-45509000	Strong transcription	Rectal Smooth Muscle	rectum
37	chr14:45506200-45509200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr14:45506200-45509200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:45506200-45509200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:45506200-45509200	Strong transcription	Adipose Nuclei	Adipose
41	chr14:45506200-45509200	Strong transcription	Brain Hippocampus Middle	brain
42	chr14:45506200-45509600	Strong transcription	Fetal Lung	lung
43	chr14:45506200-45509600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:45506400-45508800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr14:45506400-45509000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr14:45506400-45509200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:45506400-45509200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:45506400-45509800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr14:45506600-45508800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:45506600-45509200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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