Variant report

Variant	rs61978569
Chromosome Location	chr11:47594542-47594543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47594057-47595252	PFSK-1	brain:	n/a	n/a
2	ZNF263	chr11:47594223-47594909	HEK293-T-REx	kidney:	n/a	n/a
3	POLR2A	chr11:47594059-47595385	K562	blood:	n/a	n/a
4	POLR2A	chr11:47594021-47595511	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:47594096-47594577	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:47594171-47594938	U87	brain:	n/a	n/a
7	POLR2A	chr11:47594139-47595360	K562	blood:	n/a	n/a
8	POLR2A	chr11:47594143-47595319	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:47594169-47595344	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:47594515-47594858	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr11:47594468-47595401	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:47594128-47595609	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:47594350-47594963	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr11:47594392-47595136	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:47594095-47594745	K562	blood:	n/a	n/a
16	POLR2A	chr11:47594390-47594728	K562	blood:	n/a	n/a
17	POLR2A	chr11:47594394-47595319	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:47594041-47595366	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:47594385-47594683	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:47594104-47595330	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:47594074-47594851	K562	blood:	n/a	n/a
22	POLR2A	chr11:47593986-47595377	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:47594054-47595434	Hela-S3	cervix:	n/a	n/a
24	HEY1	chr11:47594432-47594621	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:47594171-47594760	U87	brain:	n/a	n/a
26	POLR2A	chr11:47594142-47595368	MCF-7	breast:	n/a	n/a
27	POLR2A	chr11:47594401-47594882	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr11:47593812-47595740	K562	blood:	n/a	n/a
29	POLR2A	chr11:47594469-47594833	HL-60	blood:	n/a	n/a
30	POLR2A	chr11:47594528-47594610	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47572081..47573898-chr11:47594438..47596905,2	K562	blood:
2	chr11:47575048..47576708-chr11:47593287..47595867,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231880	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11039250	1.00[AMR][1000 genomes]
rs11039259	1.00[AMR][1000 genomes]
rs11039261	1.00[AMR][1000 genomes]
rs11039298	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039349	1.00[AMR][1000 genomes]
rs11039363	1.00[AMR][1000 genomes]
rs11039383	1.00[AMR][1000 genomes]
rs11039388	1.00[AMR][1000 genomes]
rs12270098	1.00[AMR][1000 genomes]
rs12271179	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272214	1.00[AMR][1000 genomes]
rs12275286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277656	0.94[AFR][1000 genomes]
rs12282406	1.00[AMR][1000 genomes]
rs12283198	1.00[AMR][1000 genomes]
rs12284196	1.00[AMR][1000 genomes]
rs12286933	1.00[AMR][1000 genomes]
rs12288253	1.00[AMR][1000 genomes]
rs12289434	1.00[AMR][1000 genomes]
rs12293288	0.89[AFR][1000 genomes]
rs13377591	1.00[AMR][1000 genomes]
rs2233357	0.94[AFR][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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47588000-47594600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:47588000-47599800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47588000-47600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:47588200-47594800	Weak transcription	Small Intestine	intestine
5	chr11:47588600-47594600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:47588600-47598600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:47588600-47598800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:47588600-47599000	Strong transcription	Fetal Stomach	stomach
9	chr11:47588600-47599200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:47589200-47594600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr11:47589200-47599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:47589200-47599000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:47589400-47599400	Strong transcription	Fetal Intestine Small	intestine
14	chr11:47589800-47595600	Strong transcription	Hela-S3	cervix
15	chr11:47589800-47597200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:47589800-47597600	Strong transcription	A549	lung
17	chr11:47589800-47598200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:47589800-47598600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:47589800-47599000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:47589800-47599000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:47589800-47599200	Strong transcription	Fetal Thymus	thymus
22	chr11:47590000-47597200	Strong transcription	Dnd41	blood
23	chr11:47590000-47598000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:47590000-47599000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:47590000-47599400	Strong transcription	Fetal Intestine Large	intestine
26	chr11:47590200-47599200	Strong transcription	Placenta	Placenta
27	chr11:47590400-47595600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:47590400-47599200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:47590600-47598600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:47591000-47595600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr11:47591000-47596000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr11:47591000-47596800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:47591000-47597200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:47591000-47597400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:47591000-47597600	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr11:47591000-47597600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:47591000-47597800	Strong transcription	HepG2	liver
38	chr11:47591000-47598000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:47591000-47598000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:47591000-47598800	Strong transcription	Primary T cells from cord blood	blood
41	chr11:47591000-47599000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:47591000-47599000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:47591000-47599200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:47591200-47595200	Strong transcription	Ovary	ovary
45	chr11:47591200-47595400	Strong transcription	Aorta	Aorta
46	chr11:47591200-47595400	Strong transcription	Rectal Smooth Muscle	rectum
47	chr11:47591200-47596400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:47591200-47597200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr11:47591200-47597600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:47591200-47597600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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