Variant report

Variant	rs2017742
Chromosome Location	chr2:183999451-183999452
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183993148..183997761-chr2:183998513..184002569,6	K562	blood:
2	chr2:183998810..184000982-chr2:184027517..184029612,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10497620	1.00[ASN][1000 genomes]
rs11682917	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11893835	0.81[ASN][1000 genomes]
rs11904393	0.81[ASN][1000 genomes]
rs1462534	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16823717	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16823721	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16823723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823970	0.82[EUR][1000 genomes]
rs16823971	0.82[EUR][1000 genomes]
rs16823974	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16824001	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16824018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16824058	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16824059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16824095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16824106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17706149	0.96[ASN][1000 genomes]
rs17757841	0.81[ASN][1000 genomes]
rs1997486	1.00[ASN][1000 genomes]
rs2176232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368372	1.00[EUR][1000 genomes]
rs2368373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675094	0.86[ASN][1000 genomes]
rs35453132	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3748879	0.82[EUR][1000 genomes]
rs3748881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3748882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4372840	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4467235	0.81[ASN][1000 genomes]
rs4606882	0.96[ASN][1000 genomes]
rs4666611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4666612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4666620	0.96[ASN][1000 genomes]
rs4666890	0.96[ASN][1000 genomes]
rs4666892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4666896	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4666898	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55942934	0.82[EUR][1000 genomes]
rs56271556	0.82[EUR][1000 genomes]
rs56402172	1.00[ASN][1000 genomes]
rs59041013	0.82[EUR][1000 genomes]
rs61283216	0.82[EUR][1000 genomes]
rs61526412	0.82[EUR][1000 genomes]
rs6736682	0.81[ASN][1000 genomes]
rs72892678	1.00[ASN][1000 genomes]
rs72892681	1.00[ASN][1000 genomes]
rs72892682	1.00[ASN][1000 genomes]
rs72892683	1.00[ASN][1000 genomes]
rs72892686	0.88[ASN][1000 genomes]
rs72892687	0.88[ASN][1000 genomes]
rs72892688	1.00[ASN][1000 genomes]
rs72892690	1.00[ASN][1000 genomes]
rs72894514	1.00[ASN][1000 genomes]
rs72894558	0.93[ASN][1000 genomes]
rs72896596	0.96[ASN][1000 genomes]
rs72896599	0.96[ASN][1000 genomes]
rs73036601	0.82[EUR][1000 genomes]
rs7591252	0.96[ASN][1000 genomes]
rs9333281	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9333283	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184003600	Weak transcription	Left Ventricle	heart
2	chr2:183990000-184008600	Weak transcription	Esophagus	oesophagus
3	chr2:183990000-184008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
6	chr2:183990200-184008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:183990200-184014200	Weak transcription	HSMMtube	muscle
8	chr2:183990200-184018800	Weak transcription	Placenta	Placenta
9	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:183990600-184010200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
12	chr2:183990800-184000000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
14	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:183991000-184008000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:183991000-184008400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:183991000-184013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:183991000-184018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:183991000-184018400	Weak transcription	Gastric	stomach
20	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
21	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
23	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:183991200-184001400	Weak transcription	Pancreas	Pancrea
26	chr2:183991200-184008200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:183991200-184008400	Weak transcription	Osteobl	bone
28	chr2:183991200-184008600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:183991200-184008800	Weak transcription	Brain Anterior Caudate	brain
30	chr2:183991200-184011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
32	chr2:183991400-184008400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:183991400-184034000	Weak transcription	NHLF	lung
34	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
35	chr2:183991600-184003600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:183991600-184008400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:183991600-184014200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:183991800-183999800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:183991800-184008000	Weak transcription	Brain Germinal Matrix	brain
41	chr2:183991800-184008200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:183992000-184008000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:183992200-184008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
45	chr2:183992600-184005800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:183992800-184008000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:183993000-184001400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:183993000-184001400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:183993000-184002000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:183993000-184002200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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