Variant report

Variant	rs2009247
Chromosome Location	chr11:75377729-75377730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75271851..75274774-chr11:75376979..75378673,2	K562	blood:
2	chr11:75371977..75373733-chr11:75376017..75378232,2	K562	blood:
3	chr11:75369616..75372196-chr11:75374658..75377795,3	MCF-7	breast:
4	chr11:75369962..75371623-chr11:75376445..75378438,2	K562	blood:
5	chr11:75362323..75365214-chr11:75375705..75377919,2	K562	blood:

Variant related genes	Relation type
ENSG00000149257	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10160335	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10160495	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236475	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236480	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279672	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12281880	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282340	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294083	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12574289	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574551	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12576145	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12576629	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576635	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577202	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577652	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12577671	1.00[JPT][hapmap]
rs12577817	0.84[CHB][hapmap];0.89[JPT][hapmap];0.99[ASN][1000 genomes]
rs17134189	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17134192	0.97[EUR][1000 genomes]
rs17134210	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17134231	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17134235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894210	0.85[EUR][1000 genomes]
rs3862804	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544029	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57777945	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58567299	0.87[ASN][1000 genomes]
rs59533422	0.87[ASN][1000 genomes]
rs60312531	0.80[EUR][1000 genomes]
rs61895119	0.85[EUR][1000 genomes]
rs61895120	0.85[EUR][1000 genomes]
rs61895121	0.85[EUR][1000 genomes]
rs61895122	0.88[EUR][1000 genomes]
rs61895123	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs61895124	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895125	0.97[EUR][1000 genomes]
rs61895126	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895128	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895131	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895132	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895133	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895134	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895137	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895139	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895140	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895141	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895142	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61895143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111913	0.92[EUR][1000 genomes]
rs7128429	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73488413	0.80[ASN][1000 genomes]
rs73488490	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73488497	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73502466	0.86[EUR][1000 genomes]
rs7482921	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75364600-75378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:75367400-75377800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:75367600-75378200	Weak transcription	Aorta	Aorta
4	chr11:75367800-75377800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:75375400-75378000	Weak transcription	Pancreas	Pancrea
6	chr11:75375600-75378000	Weak transcription	Spleen	Spleen
7	chr11:75376400-75378000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:75376400-75378000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr11:75376600-75377800	Active TSS	Brain Angular Gyrus	brain
10	chr11:75376600-75377800	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr11:75376600-75378000	Active TSS	Brain Cingulate Gyrus	brain
12	chr11:75376600-75380200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr11:75376600-75380600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:75377000-75377800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:75377000-75378400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr11:75377200-75378400	Active TSS	Fetal Brain Male	brain
17	chr11:75377200-75378600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:75377400-75377800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:75377400-75377800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr11:75377400-75377800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:75377400-75378400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:75377600-75377800	Active TSS	Brain Germinal Matrix	brain
23	chr11:75377600-75378000	Active TSS	Brain Anterior Caudate	brain
24	chr11:75377600-75378000	Active TSS	Fetal Brain Female	brain
25	chr11:75377600-75379400	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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