Variant report

Variant	rs11140313
Chromosome Location	chr9:86586557-86586558
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:86586516-86586888	K562	blood:	n/a	n/a
2	POLR2A	chr9:86585604-86589004	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:86586473-86587849	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr9:86585771-86587940	GM12892	blood:	n/a	n/a
5	POLR2A	chr9:86585787-86587897	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:86586089-86587737	K562	blood:	n/a	n/a
7	POLR2A	chr9:86586387-86587585	GM12891	blood:	n/a	n/a
8	POLR2A	chr9:86586486-86587020	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr9:86583469-86597690	K562	blood:	n/a	n/a
10	POLR2A	chr9:86586472-86587008	K562	blood:	n/a	n/a
11	POLR2A	chr9:86586494-86586719	HepG2	liver:	n/a	n/a
12	POLR2A	chr9:86586449-86586699	ECC-1	luminal epithelium:	n/a	n/a
13	USF2	chr9:86586550-86586588	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr9:86586441-86586835	HepG2	liver:	n/a	n/a
15	POLR2A	chr9:86584320-86587706	GM12878	blood:	n/a	n/a
16	POLR2A	chr9:86585955-86587735	GM12892	blood:	n/a	n/a
17	POLR2A	chr9:86586377-86587764	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr9:86586313-86586888	GM12891	blood:	n/a	n/a
19	POLR2A	chr9:86586450-86586940	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr9:86586013-86587594	GM12891	blood:	n/a	n/a
21	POLR2A	chr9:86586374-86587649	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr9:86586497-86586710	GM12878	blood:	n/a	n/a
23	HEY1	chr9:86586433-86587250	K562	blood:	n/a	n/a
24	POLR2A	chr9:86586482-86586828	HL-60	blood:	n/a	n/a
25	POLR2A	chr9:86586393-86586749	K562	blood:	n/a	n/a
26	HEY1	chr9:86586541-86586872	HepG2	liver:	n/a	n/a
27	POLR2A	chr9:86585919-86586769	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr9:86586477-86587109	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr9:86586046-86588932	HepG2	liver:	n/a	n/a
30	POLR2A	chr9:86584325-86587727	K562	blood:	n/a	n/a
31	POLR2A	chr9:86586436-86586840	HL-60	blood:	n/a	n/a
32	POLR2A	chr9:86584019-86593013	HepG2	liver:	n/a	n/a
33	POLR2A	chr9:86586386-86587763	A549	lung:	n/a	n/a
34	POLR2A	chr9:86586483-86586746	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr9:86579375-86587923	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr9:86586410-86587624	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr9:86586399-86587622	GM12891	blood:	n/a	n/a
38	POLR2A	chr9:86586435-86586693	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr9:86586486-86586719	HepG2	liver:	n/a	n/a
40	POLR2A	chr9:86585962-86587807	HepG2	liver:	n/a	n/a
41	POLR2A	chr9:86586505-86586592	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr9:86586436-86586831	U87	brain:	n/a	n/a
43	POLR2A	chr9:86586438-86586874	K562	blood:	n/a	n/a
44	POLR2A	chr9:86584178-86592956	GM12891	blood:	n/a	n/a
45	POLR2A	chr9:86585894-86588932	GM12878	blood:	n/a	n/a
46	POLR2A	chr9:86586455-86586873	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr9:86585777-86588071	U87	brain:	n/a	n/a
48	POLR2A	chr9:86585643-86587670	GM12892	blood:	n/a	n/a
49	POLR2A	chr9:86585675-86587885	MCF-7	breast:	n/a	n/a
50	POLR2A	chr9:86585316-86587534	Hela-S3	cervix:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000235298	TF binding region
HNRNPK	TF binding region
MIR7-1	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10868067	0.93[EUR][1000 genomes]
rs11140269	0.85[EUR][1000 genomes]
rs11140270	0.85[EUR][1000 genomes]
rs11140271	1.00[EUR][1000 genomes]
rs11140274	0.92[EUR][1000 genomes]
rs11140275	0.92[EUR][1000 genomes]
rs11140280	1.00[EUR][1000 genomes]
rs11140288	1.00[EUR][1000 genomes]
rs11140290	0.86[EUR][1000 genomes]
rs11140292	1.00[EUR][1000 genomes]
rs11140294	1.00[EUR][1000 genomes]
rs11140296	1.00[EUR][1000 genomes]
rs11140308	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11140309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140310	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140316	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140318	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140321	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140337	1.00[EUR][1000 genomes]
rs11140338	1.00[EUR][1000 genomes]
rs11531847	1.00[EUR][1000 genomes]
rs11533022	1.00[EUR][1000 genomes]
rs11533047	0.93[EUR][1000 genomes]
rs11535577	1.00[EUR][1000 genomes]
rs11559387	0.85[EUR][1000 genomes]
rs12056961	1.00[EUR][1000 genomes]
rs12235653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12237056	1.00[EUR][1000 genomes]
rs12237297	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59409125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60989495	0.86[EUR][1000 genomes]
rs73471357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9776332	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv8541	chr9:86469723-86593758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv831644	chr9:86534310-86704395	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	esv3366490	chr9:86541369-86608868	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
8	nsv1043703	chr9:86545917-86603545	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv893514	chr9:86584160-86678917	Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 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	chr9:86572200-86586600	Weak transcription	Aorta	Aorta
2	chr9:86572200-86593200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:86572400-86590000	Weak transcription	Right Atrium	heart
4	chr9:86577600-86586600	Weak transcription	Stomach Mucosa	stomach
5	chr9:86577800-86586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:86580600-86588600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:86580600-86590400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:86580600-86591400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr9:86580800-86588400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr9:86580800-86588600	Strong transcription	Dnd41	blood
11	chr9:86580800-86589800	Strong transcription	HMEC	breast
12	chr9:86581000-86586800	Strong transcription	A549	lung
13	chr9:86581000-86587800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:86581000-86590000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr9:86581000-86591000	Strong transcription	Osteobl	bone
16	chr9:86581000-86591200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:86581000-86591200	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr9:86581200-86588800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:86581200-86589600	Strong transcription	Liver	Liver
20	chr9:86581200-86589600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:86581200-86589800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:86581200-86590000	Strong transcription	Fetal Muscle Leg	muscle
23	chr9:86581200-86590400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:86581200-86591200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:86581200-86591200	Strong transcription	Adipose Nuclei	Adipose
26	chr9:86581200-86591200	Strong transcription	HSMM	muscle
27	chr9:86581200-86591400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:86581200-86591600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr9:86581200-86591800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:86581200-86591800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:86581200-86591800	Strong transcription	HSMMtube	muscle
32	chr9:86581200-86592200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:86581200-86592200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr9:86581200-86592400	Strong transcription	Fetal Thymus	thymus
35	chr9:86581200-86593000	Strong transcription	Placenta	Placenta
36	chr9:86581400-86588400	Strong transcription	Fetal Intestine Large	intestine
37	chr9:86581400-86589800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr9:86581400-86589800	Strong transcription	Brain Anterior Caudate	brain
39	chr9:86581400-86589800	Strong transcription	HUVEC	blood vessel
40	chr9:86581400-86591400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:86581400-86591800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:86581400-86592000	Strong transcription	NH-A	brain
43	chr9:86581400-86592000	Strong transcription	NHDF-Ad	bronchial
44	chr9:86581400-86592200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr9:86581400-86592200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr9:86581600-86587600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr9:86581600-86588200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:86581600-86592200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr9:86581600-86592600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr9:86581800-86587400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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