Variant report

Variant	rs7872631
Chromosome Location	chr9:86590069-86590070
allele	C/T
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	chr9:86590006-86590200	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr9:86583469-86597690	K562	blood:	n/a	n/a
5	POLR2A	chr9:86589643-86591515	K562	blood:	n/a	n/a
6	POLR2A	chr9:86589056-86597036	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:86589988-86590695	K562	blood:	n/a	n/a
8	POLR2A	chr9:86589610-86590214	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr9:86589423-86592000	GM12878	blood:	n/a	n/a
10	POLR2A	chr9:86589809-86590189	PANC-1	pancreas:	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	chr9:86589523-86590769	GM12892	blood:	n/a	n/a
15	POLR2A	chr9:86589815-86590167	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr9:86589216-86590957	U87	brain:	n/a	n/a
17	WRNIP1	chr9:86589789-86590516	GM12878	blood:	n/a	n/a
18	POLR2A	chr9:86589510-86590316	HepG2	liver:	n/a	n/a
19	POLR2A	chr9:86590014-86590527	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr9:86589197-86590826	MCF-7	breast:	n/a	n/a
21	POLR2A	chr9:86589410-86590775	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr9:86589437-86590805	GM12892	blood:	n/a	n/a
23	POLR2A	chr9:86589117-86591869	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr9:86589550-86590233	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr9:86589120-86590829	GM12878	blood:	n/a	n/a
26	POLR2A	chr9:86590006-86590649	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr9:86584019-86593013	HepG2	liver:	n/a	n/a
28	POLR2A	chr9:86589601-86590704	GM12891	blood:	n/a	n/a
29	POLR2A	chr9:86589347-86590683	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr9:86589595-86590673	GM12891	blood:	n/a	n/a
31	POLR2A	chr9:86589241-86590277	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr9:86589648-86590843	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr9:86584178-86592956	GM12891	blood:	n/a	n/a
34	POLR2A	chr9:86589285-86591250	U87	brain:	n/a	n/a
35	POLR2A	chr9:86589344-86590208	U87	brain:	n/a	n/a
36	POLR2A	chr9:86589968-86590180	GM12891	blood:	n/a	n/a
37	POLR2A	chr9:86590008-86590219	H1-hESC	embryonic stem cell:	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
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]
rs12001918	0.94[YRI][hapmap]
rs17064724	0.94[YRI][hapmap]
rs2184086	0.94[YRI][hapmap]
rs57364890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57371575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57996505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58090060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59038995	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59227663	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59962995	1.00[AMR][1000 genomes]
rs60035746	1.00[AMR][1000 genomes]
rs60639174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60889426	1.00[AMR][1000 genomes]
rs61372781	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61708723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6559755	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6559759	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7035469	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7038536	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469353	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469354	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469361	1.00[AMR][1000 genomes]
rs73469367	1.00[AMR][1000 genomes]
rs73469373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469375	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469382	1.00[AMR][1000 genomes]
rs73469388	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73473366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73473369	1.00[AMR][1000 genomes]
rs73473371	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7856484	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7874481	0.88[YRI][hapmap]
rs7875551	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs970846	0.83[YRI][hapmap]

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	chr9:86580600-86590400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:86580600-86591400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr9:86581000-86591000	Strong transcription	Osteobl	bone
5	chr9:86581000-86591200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:86581000-86591200	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr9:86581200-86590400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:86581200-86591200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:86581200-86591200	Strong transcription	Adipose Nuclei	Adipose
10	chr9:86581200-86591200	Strong transcription	HSMM	muscle
11	chr9:86581200-86591400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:86581200-86591600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr9:86581200-86591800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:86581200-86591800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:86581200-86591800	Strong transcription	HSMMtube	muscle
16	chr9:86581200-86592200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:86581200-86592200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:86581200-86592400	Strong transcription	Fetal Thymus	thymus
19	chr9:86581200-86593000	Strong transcription	Placenta	Placenta
20	chr9:86581400-86591400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:86581400-86591800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:86581400-86592000	Strong transcription	NH-A	brain
23	chr9:86581400-86592000	Strong transcription	NHDF-Ad	bronchial
24	chr9:86581400-86592200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr9:86581400-86592200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr9:86581600-86592200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr9:86581600-86592600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr9:86581800-86590800	Strong transcription	Fetal Kidney	kidney
29	chr9:86581800-86591800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr9:86581800-86592200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr9:86581800-86592600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:86582200-86591200	Strong transcription	Fetal Lung	lung
33	chr9:86582200-86592800	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr9:86582600-86592200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr9:86583400-86592000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:86583600-86592000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:86583800-86591000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:86583800-86592600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr9:86584000-86590200	Strong transcription	Left Ventricle	heart
40	chr9:86584000-86590800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:86584200-86590400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:86584200-86591400	Strong transcription	NHLF	lung
43	chr9:86584200-86591800	Strong transcription	Primary B cells from cord blood	blood
44	chr9:86584400-86591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:86584400-86591400	Strong transcription	Rectal Smooth Muscle	rectum
46	chr9:86584400-86591400	Strong transcription	K562	blood
47	chr9:86584600-86590400	Strong transcription	Spleen	Spleen
48	chr9:86584600-86590800	Strong transcription	Fetal Stomach	stomach
49	chr9:86584600-86592000	Strong transcription	Thymus	Thymus
50	chr9:86584600-86592800	Strong transcription	Colonic Mucosa	Colon

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