Variant report

Variant	rs11140314
Chromosome Location	chr9:86589724-86589725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:86589575-86590707	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr9:86589635-86590728	GM12892	blood:	n/a	n/a
3	POLR2A	chr9:86589662-86589844	K562	blood:	n/a	n/a
4	POLR2A	chr9:86589681-86589853	GM12891	blood:	n/a	n/a
5	POLR2A	chr9:86583469-86597690	K562	blood:	n/a	n/a
6	POLR2A	chr9:86589643-86591515	K562	blood:	n/a	n/a
7	POLR2A	chr9:86589056-86597036	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:86589685-86589858	ProgFib	skin:	n/a	n/a
9	POLR2A	chr9:86589610-86590214	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr9:86589423-86592000	GM12878	blood:	n/a	n/a
11	POLR2A	chr9:86589155-86590956	HepG2	liver:	n/a	n/a
12	POLR2A	chr9:86589248-86590910	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr9:86589301-86591746	HepG2	liver:	n/a	n/a
14	POLR2A	chr9:86589641-86589938	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:86589523-86590769	GM12892	blood:	n/a	n/a
16	POLR2A	chr9:86589216-86590957	U87	brain:	n/a	n/a
17	POLR2A	chr9:86589510-86590316	HepG2	liver:	n/a	n/a
18	POLR2A	chr9:86589197-86590826	MCF-7	breast:	n/a	n/a
19	POLR2A	chr9:86589410-86590775	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr9:86589437-86590805	GM12892	blood:	n/a	n/a
21	POLR2A	chr9:86589117-86591869	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr9:86589712-86589898	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr9:86589550-86590233	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr9:86589627-86590034	GM12892	blood:	n/a	n/a
25	POLR2A	chr9:86589120-86590829	GM12878	blood:	n/a	n/a
26	POLR2A	chr9:86584019-86593013	HepG2	liver:	n/a	n/a
27	POLR2A	chr9:86589601-86590704	GM12891	blood:	n/a	n/a
28	POLR2A	chr9:86589347-86590683	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr9:86589633-86590041	GM12891	blood:	n/a	n/a
30	POLR2A	chr9:86589435-86590003	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr9:86589595-86590673	GM12891	blood:	n/a	n/a
32	POLR2A	chr9:86589241-86590277	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr9:86589648-86590843	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr9:86584178-86592956	GM12891	blood:	n/a	n/a
35	POLR2A	chr9:86589285-86591250	U87	brain:	n/a	n/a
36	POLR2A	chr9:86589546-86589981	K562	blood:	n/a	n/a
37	POLR2A	chr9:86589344-86590208	U87	brain:	n/a	n/a
38	POLR2A	chr9:86589125-86591120	U87	brain:	n/a	n/a
39	POLR2A	chr9:86589162-86591290	A549	lung:	n/a	n/a

No data

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

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10780645	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10868067	0.93[EUR][1000 genomes]
rs11140252	1.00[CHB][hapmap]
rs11140254	1.00[CEU][hapmap];1.00[CHB][hapmap]
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[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11140288	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11140290	0.86[EUR][1000 genomes]
rs11140291	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11140292	1.00[EUR][1000 genomes]
rs11140294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11140296	1.00[EUR][1000 genomes]
rs11140308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11140309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs12056961	1.00[EUR][1000 genomes]
rs12235653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12235969	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12237056	1.00[EUR][1000 genomes]
rs12237297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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	chr9:86572200-86593200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:86572400-86590000	Weak transcription	Right Atrium	heart
3	chr9:86580600-86590400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:86580600-86591400	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr9:86580800-86589800	Strong transcription	HMEC	breast
6	chr9:86581000-86590000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr9:86581000-86591000	Strong transcription	Osteobl	bone
8	chr9:86581000-86591200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr9:86581000-86591200	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr9:86581200-86589800	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr9:86581200-86590000	Strong transcription	Fetal Muscle Leg	muscle
12	chr9:86581200-86590400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:86581200-86591200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:86581200-86591200	Strong transcription	Adipose Nuclei	Adipose
15	chr9:86581200-86591200	Strong transcription	HSMM	muscle
16	chr9:86581200-86591400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:86581200-86591600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr9:86581200-86591800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:86581200-86591800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:86581200-86591800	Strong transcription	HSMMtube	muscle
21	chr9:86581200-86592200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:86581200-86592200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:86581200-86592400	Strong transcription	Fetal Thymus	thymus
24	chr9:86581200-86593000	Strong transcription	Placenta	Placenta
25	chr9:86581400-86589800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:86581400-86589800	Strong transcription	Brain Anterior Caudate	brain
27	chr9:86581400-86589800	Strong transcription	HUVEC	blood vessel
28	chr9:86581400-86591400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:86581400-86591800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:86581400-86592000	Strong transcription	NH-A	brain
31	chr9:86581400-86592000	Strong transcription	NHDF-Ad	bronchial
32	chr9:86581400-86592200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr9:86581400-86592200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr9:86581600-86592200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr9:86581600-86592600	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr9:86581800-86589800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:86581800-86589800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr9:86581800-86590000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr9:86581800-86590800	Strong transcription	Fetal Kidney	kidney
40	chr9:86581800-86591800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr9:86581800-86592200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:86581800-86592600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr9:86582000-86589800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr9:86582200-86591200	Strong transcription	Fetal Lung	lung
45	chr9:86582200-86592800	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr9:86582600-86592200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr9:86583400-86592000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr9:86583600-86592000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:86583800-86591000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:86583800-86592600	Strong transcription	Fetal Muscle Trunk	muscle

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