Variant report

Variant	rs11039302
Chromosome Location	chr11:47595051-47595052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 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	POLR2A	chr11:47594059-47595385	K562	blood:	n/a	n/a
3	POLR2A	chr11:47595011-47595321	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:47594021-47595511	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:47594139-47595360	K562	blood:	n/a	n/a
6	POLR2A	chr11:47594900-47595321	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:47594977-47595334	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:47594964-47595557	K562	blood:	n/a	n/a
9	POLR2A	chr11:47594143-47595319	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:47594169-47595344	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:47594468-47595401	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:47594840-47595118	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:47594128-47595609	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:47594775-47595357	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:47594392-47595136	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:47594822-47595407	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	chr11:47595046-47595225	A549	lung:	n/a	n/a
20	POLR2A	chr11:47594104-47595330	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:47594699-47595313	PFSK-1	brain:	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	POLR2A	chr11:47594714-47595296	K562	blood:	n/a	n/a
25	POLR2A	chr11:47594142-47595368	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:47594870-47595352	HL-60	blood:	n/a	n/a
27	POLR2A	chr11:47594719-47595222	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:47593812-47595740	K562	blood:	n/a	n/a
29	POLR2A	chr11:47594928-47595353	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47574930..47577234-chr11:47594765..47596418,2	MCF-7	breast:
2	chr11:47572081..47573898-chr11:47594438..47596905,2	K562	blood:
3	chr11:47575048..47576708-chr11:47593287..47595867,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231880	TF binding region

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1017730	1.00[LWK][hapmap]
rs11039258	1.00[LWK][hapmap]
rs11039292	1.00[LWK][hapmap]
rs11039315	1.00[LWK][hapmap]
rs11608017	1.00[CHB][hapmap]
rs12286241	1.00[CHB][hapmap]
rs2125835	1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap]

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	chr11:47588000-47599800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47588000-47600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:47588600-47598600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:47588600-47598800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:47588600-47599000	Strong transcription	Fetal Stomach	stomach
6	chr11:47588600-47599200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:47589200-47599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:47589200-47599000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:47589400-47599400	Strong transcription	Fetal Intestine Small	intestine
10	chr11:47589800-47595600	Strong transcription	Hela-S3	cervix
11	chr11:47589800-47597200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:47589800-47597600	Strong transcription	A549	lung
13	chr11:47589800-47598200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:47589800-47598600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:47589800-47599000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:47589800-47599000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:47589800-47599200	Strong transcription	Fetal Thymus	thymus
18	chr11:47590000-47597200	Strong transcription	Dnd41	blood
19	chr11:47590000-47598000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:47590000-47599000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr11:47590000-47599400	Strong transcription	Fetal Intestine Large	intestine
22	chr11:47590200-47599200	Strong transcription	Placenta	Placenta
23	chr11:47590400-47595600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:47590400-47599200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:47590600-47598600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:47591000-47595600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr11:47591000-47596000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr11:47591000-47596800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:47591000-47597200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:47591000-47597400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:47591000-47597600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr11:47591000-47597600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr11:47591000-47597800	Strong transcription	HepG2	liver
34	chr11:47591000-47598000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:47591000-47598000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:47591000-47598800	Strong transcription	Primary T cells from cord blood	blood
37	chr11:47591000-47599000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:47591000-47599000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:47591000-47599200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:47591200-47595200	Strong transcription	Ovary	ovary
41	chr11:47591200-47595400	Strong transcription	Aorta	Aorta
42	chr11:47591200-47595400	Strong transcription	Rectal Smooth Muscle	rectum
43	chr11:47591200-47596400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:47591200-47597200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr11:47591200-47597600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:47591200-47597600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:47591200-47597600	Strong transcription	Spleen	Spleen
48	chr11:47591200-47599000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:47591200-47599000	Strong transcription	Lung	lung
50	chr11:47591200-47599000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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