Variant report

Variant	rs10182017
Chromosome Location	chr2:178649743-178649744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10172384	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10178473	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10178858	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10178916	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10179500	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10182353	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10185318	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10202536	0.90[ASN][1000 genomes]
rs13389387	0.85[ASN][1000 genomes]
rs13395965	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13396065	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13396537	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13421315	0.87[ASN][1000 genomes]
rs13421345	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13421415	0.87[ASN][1000 genomes]
rs1438040	0.94[ASN][1000 genomes]
rs1438042	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1530035	0.84[ASN][1000 genomes]
rs1530036	0.84[ASN][1000 genomes]
rs1898585	0.89[ASN][1000 genomes]
rs28380215	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3754996	0.85[ASN][1000 genomes]
rs3770044	0.86[ASN][1000 genomes]
rs3770045	0.85[ASN][1000 genomes]
rs4297923	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4464321	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4487116	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56314683	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56690966	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56760518	0.87[ASN][1000 genomes]
rs57342997	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62183048	0.85[ASN][1000 genomes]
rs62183050	0.85[ASN][1000 genomes]
rs62184507	0.82[ASN][1000 genomes]
rs6433694	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6706739	0.87[ASN][1000 genomes]
rs6708580	0.90[ASN][1000 genomes]
rs6709966	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6718100	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6718657	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6718860	0.97[ASN][1000 genomes]
rs6718993	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6726253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6726502	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6733980	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6735387	0.84[ASN][1000 genomes]
rs6737872	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6743821	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747512	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6751656	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6752264	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6758508	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7563242	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7605091	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583690	chr2:178638381-178712283	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178647200-178650000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:178647400-178650200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:178647600-178649800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:178647600-178650000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:178647600-178650000	Enhancers	HSMM	muscle
6	chr2:178647800-178649800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:178647800-178650200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:178648000-178650200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:178648200-178650000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:178648200-178650000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr2:178648400-178649800	Enhancers	Primary T cells from cord blood	blood
12	chr2:178648400-178650000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:178648400-178650000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:178648400-178650200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:178648600-178649800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:178648600-178649800	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:178648600-178649800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:178648600-178649800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:178648600-178649800	Enhancers	Thymus	Thymus
20	chr2:178648600-178650000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:178648600-178650000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:178648600-178650000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:178648600-178650000	Enhancers	Rectal Smooth Muscle	rectum
24	chr2:178648800-178649800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr2:178648800-178649800	Flanking Active TSS	Osteobl	bone
26	chr2:178648800-178650000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:178648800-178650000	Enhancers	Brain Germinal Matrix	brain
28	chr2:178648800-178650000	Enhancers	K562	blood
29	chr2:178649200-178649800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:178649200-178649800	Enhancers	Fetal Lung	lung
31	chr2:178649200-178650000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr2:178649200-178650000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:178649400-178649800	Enhancers	Adipose Nuclei	Adipose
34	chr2:178649400-178649800	Enhancers	Liver	Liver
35	chr2:178649400-178649800	Enhancers	Brain Anterior Caudate	brain
36	chr2:178649400-178649800	Enhancers	Stomach Mucosa	stomach
37	chr2:178649400-178650000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:178649400-178650000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:178649400-178650000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:178649400-178650000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:178649400-178650000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:178649400-178650000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr2:178649400-178650000	Enhancers	Small Intestine	intestine
44	chr2:178649400-178650200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:178649400-178662000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:178649600-178649800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:178649600-178649800	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr2:178649600-178649800	Enhancers	GM12878-XiMat	blood
49	chr2:178649600-178649800	Enhancers	NH-A	brain
50	chr2:178649600-178650000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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