Variant report

Variant	rs10993082
Chromosome Location	chr9:96940619-96940620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:96935497-96946284	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:96940267-96940687	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:96935486-96946923	K562	blood:	n/a	n/a
4	POLR2A	chr9:96940217-96941611	GM12892	blood:	n/a	n/a
5	POLR2A	chr9:96940232-96941096	K562	blood:	n/a	n/a
6	POLR2A	chr9:96935500-96945447	A549	lung:	n/a	n/a
7	POLR2A	chr9:96940604-96940619	K562	blood:	n/a	n/a
8	POLR2A	chr9:96940272-96940623	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr9:96940110-96942462	K562	blood:	n/a	n/a
10	POLR2A	chr9:96940212-96944425	GM12892	blood:	n/a	n/a
11	POLR2A	chr9:96940148-96940647	GM12891	blood:	n/a	n/a
12	POLR2A	chr9:96939000-96945204	K562	blood:	n/a	n/a
13	POLR2A	chr9:96940299-96941545	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr9:96940227-96941274	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr9:96940157-96941720	GM12892	blood:	n/a	n/a
16	POLR2A	chr9:96940340-96941589	GM12891	blood:	n/a	n/a
17	POLR2A	chr9:96940131-96940653	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr9:96940165-96942406	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr9:96940265-96941695	GM12878	blood:	n/a	n/a
20	POLR2A	chr9:96938907-96947131	GM12891	blood:	n/a	n/a
21	POLR2A	chr9:96938818-96944848	K562	blood:	n/a	n/a
22	POLR2A	chr9:96938853-96946169	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr9:96940213-96940691	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96844456..96848566-chr9:96937566..96941042,3	K562	blood:
2	chr9:96791676..96794493-chr9:96936767..96941836,4	MCF-7	breast:

No data

Variant related genes	Relation type
MIRLET7D	TF binding region
ENSG00000158079	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10993081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10993083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993089	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993091	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993099	0.83[AFR][1000 genomes]
rs1362820	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3909252	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4333674	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9792534	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
3	esv3394266	chr9:96935210-97045514	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	195 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96929800-96944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:96929800-96948400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:96930600-96943600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:96930600-96943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:96931400-96965600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:96934000-96941800	Strong transcription	Dnd41	blood
7	chr9:96934200-96941000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:96934400-96942400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:96935400-96942200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:96935400-96942400	Strong transcription	Fetal Thymus	thymus
11	chr9:96935600-96942400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:96935600-96942400	Genic enhancers	HepG2	liver
13	chr9:96935800-96942400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:96936000-96941800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr9:96936800-96945200	Weak transcription	Fetal Intestine Small	intestine
16	chr9:96937000-96942000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:96937000-96943400	Weak transcription	Aorta	Aorta
18	chr9:96937200-96943800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:96937200-96944800	Weak transcription	Fetal Heart	heart
20	chr9:96937200-96959400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:96937600-96941000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr9:96937800-96942200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr9:96937800-96942400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr9:96937800-96946600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:96938000-96942400	Strong transcription	Placenta	Placenta
26	chr9:96938200-96943000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr9:96938200-96943600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr9:96938200-96949000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:96938400-96940800	Genic enhancers	GM12878-XiMat	blood
30	chr9:96938400-96941800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr9:96938400-96942400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:96938400-96944000	Strong transcription	Primary T cells from cord blood	blood
33	chr9:96938400-96944600	Strong transcription	HSMMtube	muscle
34	chr9:96938400-96947400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:96938600-96941400	Strong transcription	Primary hematopoietic stem cells	blood
36	chr9:96938600-96944000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr9:96939000-96942400	Genic enhancers	Left Ventricle	heart
38	chr9:96939200-96942400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:96939200-96942400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:96939200-96942600	Strong transcription	Lung	lung
41	chr9:96939200-96943000	Strong transcription	Primary B cells from cord blood	blood
42	chr9:96939400-96941200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:96939400-96941200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:96939400-96941200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr9:96939400-96941400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr9:96939400-96941400	Enhancers	Stomach Mucosa	stomach
47	chr9:96939400-96942400	Strong transcription	Liver	Liver
48	chr9:96939400-96942600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:96939400-96943000	Strong transcription	HMEC	breast
50	chr9:96939400-96945000	Weak transcription	Colonic Mucosa	Colon

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