Variant report

Variant	rs56021141
Chromosome Location	chr11:66307417-66307418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66307393-66307437	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:66307323-66307582	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:66307277-66307483	GM12878	blood:	n/a	n/a
4	CTCF	chr11:66307280-66307430	GM12873	blood:	n/a	chr11:66307348-66307361
5	POLR2A	chr11:66307270-66307481	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:66306112-66307674	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:66307076-66307527	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66293228..66294862-chr11:66305840..66307672,2	K562	blood:
2	chr11:66304927..66310447-chr11:66310654..66314937,8	MCF-7	breast:
3	chr11:66288210..66290506-chr11:66305537..66307903,2	K562	blood:
4	chr11:66297799..66301066-chr11:66306778..66311237,4	K562	blood:
5	chr11:66296511..66298892-chr11:66305917..66307641,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269990	TF binding region
ENSG00000248746	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000174483	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11821143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821162	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822113	0.85[AFR][1000 genomes]
rs11826683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828370	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12099209	1.00[AMR][1000 genomes]
rs28441671	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28637515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28640072	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28672995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56039471	1.00[AMR][1000 genomes]
rs57458798	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57814854	1.00[AMR][1000 genomes]
rs57925533	1.00[AMR][1000 genomes]
rs58024886	1.00[AMR][1000 genomes]
rs58149913	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61303821	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61610137	0.92[AFR][1000 genomes];1.00[AMR][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	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66278600-66311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66278800-66309800	Weak transcription	HSMMtube	muscle
3	chr11:66278800-66312800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:66279000-66309200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:66279000-66313000	Weak transcription	Small Intestine	intestine
6	chr11:66279200-66309800	Weak transcription	HUVEC	blood vessel
7	chr11:66279200-66310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:66279400-66311000	Weak transcription	Fetal Brain Male	brain
11	chr11:66279400-66311200	Weak transcription	Right Atrium	heart
12	chr11:66281000-66311000	Strong transcription	Fetal Stomach	stomach
13	chr11:66282000-66309600	Weak transcription	NHDF-Ad	bronchial
14	chr11:66283400-66312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:66289000-66308200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:66289000-66309800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:66289000-66312800	Weak transcription	Stomach Mucosa	stomach
18	chr11:66290200-66310800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:66291000-66309800	Weak transcription	HSMM	muscle
20	chr11:66291200-66309800	Weak transcription	NH-A	brain
21	chr11:66291200-66311600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:66291400-66309400	Weak transcription	A549	lung
23	chr11:66291400-66309600	Weak transcription	GM12878-XiMat	blood
24	chr11:66291400-66311000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:66291600-66309200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:66291600-66309800	Weak transcription	HMEC	breast
27	chr11:66291600-66312600	Weak transcription	NHEK	skin
28	chr11:66293600-66311000	Strong transcription	Fetal Intestine Small	intestine
29	chr11:66294600-66308800	Weak transcription	Brain Substantia Nigra	brain
30	chr11:66294800-66312400	Weak transcription	Hela-S3	cervix
31	chr11:66296200-66311200	Weak transcription	Fetal Kidney	kidney
32	chr11:66299200-66311200	Weak transcription	Fetal Lung	lung
33	chr11:66300400-66308400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:66300400-66308800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:66301400-66308200	Weak transcription	Ovary	ovary
36	chr11:66301800-66310200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:66302000-66309200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:66302200-66310000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:66302200-66310200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:66302400-66309800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:66302400-66309800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:66302400-66312800	Weak transcription	K562	blood
43	chr11:66302600-66310600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:66302800-66310000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:66302800-66310800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:66302800-66310800	Strong transcription	Thymus	Thymus
47	chr11:66303000-66310800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr11:66303200-66310000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:66303200-66310800	Strong transcription	Brain Cingulate Gyrus	brain
50	chr11:66303200-66311000	Strong transcription	Liver	Liver

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