Variant report

Variant	rs4666611
Chromosome Location	chr2:184012395-184012396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:184007568..184011382-chr2:184012317..184014101,3	K562	blood:
2	chr2:184008752..184011382-chr2:184012317..184013818,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10497620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10497624	0.83[ASN][1000 genomes]
rs11682917	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11893835	0.84[ASN][1000 genomes]
rs11904393	0.84[ASN][1000 genomes]
rs1316842	0.83[ASN][1000 genomes]
rs1400132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1462534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16823717	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16823721	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16823723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823970	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs16823971	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs16823974	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16824001	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16824018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16824025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16824033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16824048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17706149	1.00[ASN][1000 genomes]
rs17757704	0.83[ASN][1000 genomes]
rs17757841	0.84[ASN][1000 genomes]
rs1997486	0.96[ASN][1000 genomes]
rs2017742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2176232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2368372	1.00[EUR][1000 genomes]
rs2368373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2675094	0.83[ASN][1000 genomes]
rs2887234	0.86[CHB][hapmap]
rs35453132	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3748879	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs3748881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791247	0.80[CEU][hapmap]
rs4372840	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4467235	0.84[ASN][1000 genomes]
rs4606882	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4666612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666620	1.00[ASN][1000 genomes]
rs4666890	1.00[ASN][1000 genomes]
rs4666892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4666898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55942934	0.82[EUR][1000 genomes]
rs56271556	0.82[EUR][1000 genomes]
rs56402172	0.96[ASN][1000 genomes]
rs59041013	0.82[EUR][1000 genomes]
rs59876240	0.81[ASN][1000 genomes]
rs61283216	0.82[EUR][1000 genomes]
rs61526412	0.82[EUR][1000 genomes]
rs6736682	0.84[ASN][1000 genomes]
rs72892678	0.96[ASN][1000 genomes]
rs72892681	0.96[ASN][1000 genomes]
rs72892682	0.96[ASN][1000 genomes]
rs72892683	0.96[ASN][1000 genomes]
rs72892686	0.84[ASN][1000 genomes]
rs72892687	0.84[ASN][1000 genomes]
rs72892688	0.96[ASN][1000 genomes]
rs72892690	0.96[ASN][1000 genomes]
rs72894514	0.96[ASN][1000 genomes]
rs72894558	0.96[ASN][1000 genomes]
rs72896596	1.00[ASN][1000 genomes]
rs72896599	1.00[ASN][1000 genomes]
rs72898571	0.83[ASN][1000 genomes]
rs73036601	0.82[EUR][1000 genomes]
rs7591252	1.00[ASN][1000 genomes]
rs9333281	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9333283	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs987607	0.81[ASN][1000 genomes]
rs987608	0.81[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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
3	chr2:183990200-184014200	Weak transcription	HSMMtube	muscle
4	chr2:183990200-184018800	Weak transcription	Placenta	Placenta
5	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
7	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
8	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:183991000-184013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:183991000-184018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:183991000-184018400	Weak transcription	Gastric	stomach
12	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
13	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
15	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
18	chr2:183991400-184034000	Weak transcription	NHLF	lung
19	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
20	chr2:183991600-184014200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
23	chr2:183995200-184026000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:183996000-184013400	Weak transcription	Ovary	ovary
25	chr2:183996000-184026400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:183996400-184013600	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:183996400-184013800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:183996400-184018400	Weak transcription	Lung	lung
29	chr2:183996400-184025800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:184001000-184015000	Weak transcription	HSMM	muscle
31	chr2:184002200-184017600	Weak transcription	Pancreas	Pancrea
32	chr2:184005000-184025200	Weak transcription	Left Ventricle	heart
33	chr2:184006400-184013400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:184006600-184013000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:184007800-184016600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:184008000-184013600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:184009000-184013600	Weak transcription	Osteobl	bone
38	chr2:184009000-184013800	Weak transcription	K562	blood
39	chr2:184009000-184015800	Weak transcription	Liver	Liver
40	chr2:184009000-184016200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:184009000-184018200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:184009000-184018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:184009000-184023000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:184009000-184023600	Weak transcription	HMEC	breast
45	chr2:184009000-184028600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:184009200-184012400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:184009200-184012600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:184009200-184013400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:184009200-184013600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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