Variant report

Variant	rs2011026
Chromosome Location	chr3:143540059-143540060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143534241..143536547-chr3:143539436..143542162,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10212608	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs10513219	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11710427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11917152	0.85[CEU][hapmap];0.95[CHB][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11918501	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919227	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12637090	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs1823221	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2361200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35961568	0.82[EUR][1000 genomes]
rs4839611	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs4839664	0.86[EUR][1000 genomes]
rs4839668	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs4839669	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs55654258	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62268878	0.91[EUR][1000 genomes]
rs62268879	0.92[EUR][1000 genomes]
rs62268880	0.98[EUR][1000 genomes]
rs62268900	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66585826	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6773298	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794755	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6798159	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67981921	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6806661	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs72995501	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158100	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641634	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7641674	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9817066	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs9822444	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs9824504	0.84[EUR][1000 genomes]
rs9824913	0.88[EUR][1000 genomes]
rs9825095	0.87[EUR][1000 genomes]
rs9838644	0.86[EUR][1000 genomes]
rs9858623	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3418674	chr3:143457005-143558357	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1009935	chr3:143497700-143610852	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1001076	chr3:143513526-143547076	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv536747	chr3:143513526-143547076	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143514200-143544200	Weak transcription	Primary T cells from cord blood	blood
2	chr3:143529600-143540600	Weak transcription	Brain Angular Gyrus	brain
3	chr3:143529600-143543800	Weak transcription	Stomach Mucosa	stomach
4	chr3:143530600-143540600	Weak transcription	Placenta	Placenta
5	chr3:143530800-143540800	Weak transcription	Fetal Stomach	stomach
6	chr3:143531000-143543200	Weak transcription	NHDF-Ad	bronchial
7	chr3:143531800-143543200	Weak transcription	Aorta	Aorta
8	chr3:143533600-143543200	Weak transcription	Fetal Lung	lung
9	chr3:143533800-143540600	Weak transcription	Primary B cells from cord blood	blood
10	chr3:143533800-143543200	Weak transcription	Right Atrium	heart
11	chr3:143534000-143540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:143534400-143540600	Weak transcription	Fetal Thymus	thymus
13	chr3:143536000-143545200	Weak transcription	Gastric	stomach
14	chr3:143538000-143542200	Enhancers	Brain Substantia Nigra	brain
15	chr3:143538600-143542000	Enhancers	Brain Cingulate Gyrus	brain
16	chr3:143538800-143541800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr3:143539000-143542200	Enhancers	Brain Hippocampus Middle	brain
18	chr3:143539200-143540200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:143539200-143540200	Enhancers	HSMMtube	muscle
20	chr3:143539200-143544600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:143539400-143540200	Enhancers	Lung	lung
22	chr3:143539400-143541400	Enhancers	Spleen	Spleen
23	chr3:143539400-143541800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:143539400-143541800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:143539400-143545000	Weak transcription	Liver	Liver
26	chr3:143539600-143540600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:143539600-143540600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:143539600-143541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:143539600-143541400	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:143539600-143541800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:143539600-143546600	Weak transcription	Esophagus	oesophagus
32	chr3:143539600-143550000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:143539800-143540200	Weak transcription	Brain Anterior Caudate	brain
34	chr3:143539800-143540800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:143539800-143540800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr3:143539800-143541000	Enhancers	Fetal Muscle Trunk	muscle
37	chr3:143539800-143541200	Weak transcription	Psoas Muscle	Psoas
38	chr3:143539800-143541400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:143539800-143541400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:143539800-143541600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr3:143539800-143541600	Enhancers	GM12878-XiMat	blood
42	chr3:143539800-143558200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:143540000-143540200	Enhancers	Fetal Kidney	kidney
44	chr3:143540000-143540400	Weak transcription	Adipose Nuclei	Adipose
45	chr3:143540000-143540600	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:143540000-143541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:143540000-143541800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:143540000-143543000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:143540000-143549600	Weak transcription	HSMM	muscle

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