Variant report

Variant	rs12293094
Chromosome Location	chr11:102330229-102330230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102321837..102326720-chr11:102328384..102333595,6	MCF-7	breast:
2	chr11:102319786..102325001-chr11:102328300..102332050,7	K562	blood:
3	chr11:102328809..102331122-chr11:102339398..102341505,2	K562	blood:

Variant related genes	Relation type
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10219215	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs1058606	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10895292	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10895293	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10895296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs11225235	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11225236	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11225237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11225242	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11225243	0.96[EUR][1000 genomes]
rs11225244	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11225247	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11225251	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11547915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.96[EUR][1000 genomes]
rs11547916	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11601671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11603677	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11604008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11604189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes]
rs11604271	0.82[EUR][1000 genomes]
rs11605010	0.96[EUR][1000 genomes]
rs11605066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs11605133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes]
rs11605573	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11607657	0.94[EUR][1000 genomes]
rs11607908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs12269847	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12271457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12271900	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12275185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12275349	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs12277594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12277747	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12277853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12279056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12282486	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12283885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12290033	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12291114	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12293834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12792649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes]
rs1317775	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap]
rs13377311	0.86[EUR][1000 genomes]
rs17349689	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17350205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs17350590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943781	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2436036	1.00[CHB][hapmap]
rs34740624	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs484068	1.00[CHB][hapmap]
rs485020	1.00[CHB][hapmap]
rs525305	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs531350	1.00[CHB][hapmap]
rs57346058	0.96[EUR][1000 genomes]
rs57562739	0.96[EUR][1000 genomes]
rs577850	1.00[CHB][hapmap]
rs58250524	0.82[EUR][1000 genomes]
rs60056981	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61123589	0.92[EUR][1000 genomes]
rs61334418	0.96[EUR][1000 genomes]
rs637708	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs660908	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs670334	1.00[CHB][hapmap]
rs7104841	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7113906	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7114048	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102324200-102337600	Weak transcription	Lung	lung
2	chr11:102324400-102331200	Weak transcription	Pancreas	Pancrea
3	chr11:102324600-102331800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:102324600-102344600	Weak transcription	Colonic Mucosa	Colon
5	chr11:102324800-102335000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:102324800-102335800	Enhancers	HepG2	liver
7	chr11:102325000-102334600	Enhancers	Liver	Liver
8	chr11:102325000-102335600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:102325200-102335000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:102325600-102335600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:102326000-102332200	Weak transcription	Fetal Intestine Large	intestine
12	chr11:102326000-102333400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:102326000-102335400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:102326400-102335200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:102326600-102334800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:102326600-102337000	Weak transcription	Fetal Thymus	thymus
17	chr11:102327800-102337000	Weak transcription	Placenta	Placenta
18	chr11:102328200-102330400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr11:102328400-102331000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:102328600-102330600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:102328600-102331000	Enhancers	Primary T cells from cord blood	blood
22	chr11:102328800-102330600	Weak transcription	Brain Substantia Nigra	brain
23	chr11:102329000-102330800	Enhancers	GM12878-XiMat	blood
24	chr11:102329000-102331800	Weak transcription	Brain Anterior Caudate	brain
25	chr11:102329000-102332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:102329400-102332800	Enhancers	Brain Germinal Matrix	brain
27	chr11:102329600-102330800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr11:102329600-102331400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:102329600-102335000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:102329600-102337200	Weak transcription	Fetal Lung	lung
31	chr11:102329800-102330400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:102329800-102330800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:102329800-102330800	Enhancers	Thymus	Thymus
34	chr11:102330000-102331000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:102330200-102334800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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