Variant report

Variant	rs67701052
Chromosome Location	chr11:8705480-8705481
allele	A/GG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8703545-8706440	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:8702898-8711816	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:8702842-8711846	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:8705451-8705643	A549	lung:	n/a	n/a
5	MYC	chr11:8703640-8705906	K562	blood:	n/a	n/a
6	POLR2A	chr11:8703058-8706516	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:8703294-8705940	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:8702955-8706133	HCT-116	colon:	n/a	n/a
9	POLR2A	chr11:8703141-8706692	GM19099	blood:	n/a	n/a
10	POLR2A	chr11:8703029-8707716	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:8702826-8712230	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr11:8703024-8705855	GM12892	blood:	n/a	n/a
13	POLR2A	chr11:8703065-8711665	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:8703285-8707865	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:8702980-8720607	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:8703086-8706082	HL-60	blood:	n/a	n/a
18	POLR2A	chr11:8703013-8706383	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr11:8700198-8712489	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr11:8703192-8707103	GM18505	blood:	n/a	n/a
21	POLR2A	chr11:8705445-8706286	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr11:8703200-8705916	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:8703029-8712154	K562	blood:	n/a	n/a
24	POLR2A	chr11:8704929-8705934	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:8703087-8706404	K562	blood:	n/a	n/a
26	POLR2A	chr11:8700848-8711808	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:8702968-8706943	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:8703042-8706021	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:8705404-8705945	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:8705412-8705726	A549	lung:	n/a	n/a
31	RCOR1	chr11:8705471-8705661	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:8703439-8705880	GM19193	blood:	n/a	n/a
33	POLR2A	chr11:8703769-8705895	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:8705445-8706056	K562	blood:	n/a	n/a
35	POLR2A	chr11:8703265-8706001	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:8705431-8705892	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr11:8702994-8711864	GM12892	blood:	n/a	n/a
38	POLR2A	chr11:8703131-8705844	NB4	blood:	n/a	n/a
39	POLR2A	chr11:8705355-8706238	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:8702994-8705891	GM12891	blood:	n/a	n/a
41	CHD1	chr11:8703822-8706101	H1-hESC	embryonic stem cell:	n/a	chr11:8704313-8704322
42	POLR2A	chr11:8705304-8705978	HCT-116	colon:	n/a	n/a
43	MBD4	chr11:8705463-8706078	HepG2	liver:	n/a	n/a
44	SMARCB1	chr11:8703540-8705640	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:8703232-8707460	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:8703209-8705962	GM18951	blood:	n/a	n/a
47	POLR2A	chr11:8705414-8707577	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr11:8704944-8705928	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3AK20	chr11:8705411-8705659	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:8703054-8712257	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8702870..8705880-chr11:8738952..8743089,6	MCF-7	breast:
2	chr11:8701660..8705909-chr11:8738922..8746228,9	MCF-7	breast:
3	chr11:8702711..8705833-chr11:8931238..8933056,3	K562	blood:
4	chr11:8702257..8705886-chr11:8931185..8934379,5	MCF-7	breast:
5	chr11:8704228..8705954-chr11:9023702..9025627,2	K562	blood:
6	chr11:8704319..8705885-chr11:8789262..8791873,2	MCF-7	breast:
7	chr11:8705138..8707621-chr11:8984474..8986069,2	K562	blood:
8	chr11:8703102..8705784-chr11:8929556..8931487,2	MCF-7	breast:
9	chr11:8614018..8615815-chr11:8704377..8705921,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL27A	TF binding region
SNORA3	TF binding region
SNORA45	TF binding region
ENSG00000175352	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000166452	Chromatin interaction
ENSG00000130413	Chromatin interaction
ENSG00000255159	Chromatin interaction
ENSG00000175348	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10840111	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042036	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11042038	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073685	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2073686	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2270958	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35330493	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35957960	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4929930	0.92[EUR][1000 genomes]
rs6735	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7945657	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8703200-8705600	Active TSS	Right Ventricle	heart
2	chr11:8703200-8705600	Active TSS	GM12878-XiMat	blood
3	chr11:8703200-8705600	Active TSS	HSMMtube	muscle
4	chr11:8703200-8705800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:8703400-8705600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:8703400-8705600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:8703400-8705600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:8703400-8705600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:8703400-8705600	Active TSS	Fetal Intestine Large	intestine
10	chr11:8703400-8705600	Active TSS	Gastric	stomach
11	chr11:8703400-8705600	Active TSS	Ovary	ovary
12	chr11:8703400-8705600	Active TSS	HSMM	muscle
13	chr11:8703400-8705600	Active TSS	NHDF-Ad	bronchial
14	chr11:8703400-8705800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr11:8703400-8705800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:8703600-8705600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:8703600-8705600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:8703600-8705600	Active TSS	Small Intestine	intestine
19	chr11:8703600-8705600	Active TSS	HMEC	breast
20	chr11:8703600-8705600	Active TSS	NH-A	brain
21	chr11:8703600-8705600	Active TSS	Osteobl	bone
22	chr11:8703600-8705800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr11:8703600-8705800	Active TSS	Hela-S3	cervix
24	chr11:8703800-8705600	Active TSS	Fetal Heart	heart
25	chr11:8703800-8705800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
26	chr11:8703800-8706800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:8704000-8706800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
28	chr11:8704400-8705600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:8704400-8707000	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr11:8704400-8707200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
31	chr11:8704600-8705600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr11:8704600-8705600	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr11:8704600-8705600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr11:8704600-8705600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr11:8704600-8705600	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr11:8704600-8705600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr11:8704600-8705800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr11:8704600-8705800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:8704600-8707600	Transcr. at gene 5' and 3'	A549	lung
40	chr11:8704800-8705600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr11:8704800-8705600	Flanking Active TSS	Liver	Liver
42	chr11:8704800-8705600	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr11:8704800-8705600	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr11:8704800-8705800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr11:8704800-8705800	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr11:8704800-8707200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
47	chr11:8704800-8707200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
48	chr11:8704800-8707200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
49	chr11:8704800-8707200	Transcr. at gene 5' and 3'	NHEK	skin
50	chr11:8704800-8707800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin

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