Variant report

Variant	rs6591331
Chromosome Location	chr11:67884739-67884740
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67884296-67884777	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:67883412-67887034	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:67884682-67884744	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:67884301-67885001	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:67884192-67884842	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:67884246-67884783	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67876195..67879063-chr11:67882958..67885886,2	K562	blood:
2	chr11:67883153..67885077-chr11:67890088..67891678,2	MCF-7	breast:
3	chr11:67883818..67886803-chr11:67914742..67916607,2	K562	blood:
4	chr11:67884462..67886962-chr11:67887036..67889348,3	MCF-7	breast:
5	chr11:67864482..67867451-chr11:67881953..67884914,3	K562	blood:
6	chr11:67879272..67883726-chr11:67883883..67887587,4	MCF-7	breast:
7	chr11:67864986..67867451-chr11:67882462..67884914,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255236	TF binding region
ENSG00000110721	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10791956	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10791957	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896293	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896295	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11228127	0.82[CHB][hapmap]
rs11228129	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11228131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11228133	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11228136	0.86[ASN][1000 genomes]
rs11228137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11228144	0.88[JPT][hapmap]
rs11228145	0.90[JPT][hapmap]
rs11535788	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11824199	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2457179	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2457180	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2511437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2511467	0.92[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2511468	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2511469	0.90[JPT][hapmap]
rs2511470	0.88[CEU][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2511472	0.89[JPT][hapmap]
rs2511475	0.92[CEU][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2511478	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2511479	0.92[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2512611	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2512612	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2512623	0.89[JPT][hapmap]
rs2512624	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3133327	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3819255	0.96[CEU][hapmap];0.86[ASN][1000 genomes]
rs3935460	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4073551	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4420277	0.82[ASN][1000 genomes]
rs4930227	0.90[ASN][1000 genomes]
rs4930557	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61890478	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6591333	0.82[AMR][1000 genomes]
rs7104982	0.83[ASN][1000 genomes]
rs7123183	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71480230	0.85[ASN][1000 genomes]
rs7925022	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7925423	0.89[ASN][1000 genomes]
rs7928739	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7940113	0.81[ASN][1000 genomes]
rs7940217	0.86[ASN][1000 genomes]
rs7940501	0.81[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7944372	0.81[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][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	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
3	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
4	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
5	nsv371	chr11:67881973-67891493	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67839800-67886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:67848400-67886400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:67849000-67885400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:67849400-67887400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:67867400-67885200	Weak transcription	HSMMtube	muscle
6	chr11:67867400-67885600	Weak transcription	Primary B cells from cord blood	blood
7	chr11:67867400-67886200	Weak transcription	Thymus	Thymus
8	chr11:67867600-67885400	Weak transcription	HSMM	muscle
9	chr11:67868400-67887400	Weak transcription	Primary T cells from cord blood	blood
10	chr11:67873400-67885400	Weak transcription	Fetal Thymus	thymus
11	chr11:67874000-67885600	Weak transcription	Right Ventricle	heart
12	chr11:67874400-67885600	Weak transcription	Left Ventricle	heart
13	chr11:67874400-67886200	Weak transcription	Brain Germinal Matrix	brain
14	chr11:67875400-67888200	Weak transcription	Spleen	Spleen
15	chr11:67875600-67885200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:67875600-67885400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:67875600-67885600	Weak transcription	Lung	lung
18	chr11:67875800-67884800	Weak transcription	Gastric	stomach
19	chr11:67875800-67885400	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:67876200-67886800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:67877800-67885600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:67878800-67887800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:67880800-67886200	Weak transcription	Fetal Brain Male	brain
24	chr11:67881000-67884800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:67881800-67885400	Enhancers	Brain Hippocampus Middle	brain
26	chr11:67881800-67887600	Weak transcription	HMEC	breast
27	chr11:67882200-67885200	Weak transcription	Placenta	Placenta
28	chr11:67882200-67886200	Enhancers	Brain Substantia Nigra	brain
29	chr11:67882200-67886200	Weak transcription	NHDF-Ad	bronchial
30	chr11:67882400-67887400	Weak transcription	Small Intestine	intestine
31	chr11:67882600-67886000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:67882800-67885600	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:67883000-67885400	Weak transcription	Dnd41	blood
34	chr11:67883000-67886000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr11:67883000-67887800	Weak transcription	Aorta	Aorta
36	chr11:67883200-67884800	Enhancers	Fetal Heart	heart
37	chr11:67883200-67885600	Weak transcription	Pancreas	Pancrea
38	chr11:67883200-67886200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr11:67883400-67885400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:67883400-67885400	Genic enhancers	Fetal Intestine Small	intestine
41	chr11:67883400-67885600	Enhancers	Duodenum Mucosa	Duodenum
42	chr11:67883400-67886200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:67883400-67886200	Enhancers	Hela-S3	cervix
44	chr11:67883600-67885400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:67883600-67885400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:67883600-67886200	Enhancers	Liver	Liver
47	chr11:67883600-67886200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:67883600-67886400	Enhancers	Stomach Mucosa	stomach
49	chr11:67883600-67887400	Enhancers	Ovary	ovary
50	chr11:67883800-67885600	Enhancers	Adipose Nuclei	Adipose

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