Variant report

Variant	rs520074
Chromosome Location	chr11:36528025-36528026
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:36527932-36528132	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RAG1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12295535	1.00[MEX][hapmap]
rs1515062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2173394	1.00[EUR][1000 genomes]
rs230485	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2458930	0.88[LWK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2673017	1.00[EUR][1000 genomes]
rs2673018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331449	0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs331451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331456	0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs331458	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331475	1.00[AMR][1000 genomes]
rs34340782	1.00[EUR][1000 genomes]
rs34574486	1.00[EUR][1000 genomes]
rs34608958	1.00[EUR][1000 genomes]
rs35691292	0.85[GIH][hapmap]
rs4756327	0.83[GIH][hapmap];1.00[TSI][hapmap]
rs496289	1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs505296	1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs510479	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60287310	1.00[EUR][1000 genomes]
rs61475582	1.00[EUR][1000 genomes]
rs6484862	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs692743	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs693068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109588	1.00[EUR][1000 genomes]
rs7125448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs962353	0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
2	chr11:36508800-36530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:36512200-36530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:36512400-36529800	Weak transcription	Colonic Mucosa	Colon
5	chr11:36513800-36529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:36513800-36530000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:36513800-36530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:36513800-36530400	Weak transcription	Lung	lung
9	chr11:36514000-36529600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:36514000-36530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:36514000-36530800	Weak transcription	Small Intestine	intestine
12	chr11:36518000-36530400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:36519000-36529800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:36520200-36529600	Weak transcription	Fetal Kidney	kidney
15	chr11:36520200-36529800	Weak transcription	A549	lung
16	chr11:36522000-36529600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:36522000-36530400	Weak transcription	Gastric	stomach
18	chr11:36522200-36529600	Weak transcription	Brain Germinal Matrix	brain
19	chr11:36522200-36529800	Weak transcription	Hela-S3	cervix
20	chr11:36522200-36530000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:36522200-36530000	Weak transcription	Aorta	Aorta
22	chr11:36522200-36530000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:36522400-36529600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:36522400-36530000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:36522400-36530200	Weak transcription	Ovary	ovary
26	chr11:36522800-36528800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:36522800-36529600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:36522800-36529800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:36522800-36530400	Weak transcription	Fetal Brain Male	brain
30	chr11:36523000-36529600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:36523000-36529600	Weak transcription	Fetal Brain Female	brain
32	chr11:36523000-36529800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:36523000-36529800	Weak transcription	NHLF	lung
34	chr11:36523000-36530200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:36523000-36530200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:36523200-36529400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:36523200-36529600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:36523200-36529800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:36523200-36529800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:36523200-36529800	Weak transcription	Fetal Stomach	stomach
41	chr11:36523200-36529800	Weak transcription	Thymus	Thymus
42	chr11:36523200-36529800	Weak transcription	GM12878-XiMat	blood
43	chr11:36523200-36529800	Weak transcription	HUVEC	blood vessel
44	chr11:36523200-36529800	Weak transcription	Osteobl	bone
45	chr11:36523200-36530200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:36523200-36530400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:36523200-36530400	Weak transcription	Placenta	Placenta
48	chr11:36523400-36529800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:36523600-36529400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:36523600-36529600	Weak transcription	Right Ventricle	heart

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