Variant report

Variant	rs969148
Chromosome Location	chr9:86592438-86592439
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	MAFK	chr9:86592137-86592486	HepG2	liver:	n/a	n/a
2	MAFF	chr9:86592149-86592446	K562	blood:	n/a	n/a
3	POLR2A	chr9:86592005-86597005	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr9:86592196-86592486	K562	blood:	n/a	n/a
5	POLR2A	chr9:86583469-86597690	K562	blood:	n/a	n/a
6	POLR2A	chr9:86589056-86597036	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:86592188-86593303	SK-N-SH	brain:	n/a	n/a
8	MAFK	chr9:86592141-86592457	Hela-S3	cervix:	n/a	n/a
9	MAFK	chr9:86592143-86592488	IMR90	lung:	n/a	n/a
10	MAFK	chr9:86592160-86592453	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr9:86592112-86592450	MCF-7	breast:	n/a	n/a
12	POLR2A	chr9:86592255-86592448	HepG2	liver:	n/a	n/a
13	NFATC1	chr9:86592005-86592742	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:86591266-86593022	U87	brain:	n/a	n/a
15	CTCF	chr9:86592300-86592450	AoAF	blood vessel:	n/a	n/a
16	POLR2A	chr9:86584019-86593013	HepG2	liver:	n/a	n/a
17	POLR2A	chr9:86591266-86592530	U87	brain:	n/a	n/a
18	POLR2A	chr9:86591552-86592884	A549	lung:	n/a	n/a
19	POLR2A	chr9:86592019-86592943	GM12878	blood:	n/a	n/a
20	MAFK	chr9:86592135-86592468	HepG2	liver:	n/a	n/a
21	POLR2A	chr9:86584178-86592956	GM12891	blood:	n/a	n/a
22	CTCF	chr9:86592400-86592550	HPAF	blood vessel:	n/a	n/a
23	MAFF	chr9:86592159-86592471	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:86535076..86537991-chr9:86590146..86593000,2	K562	blood:
2	chr17:57914983..57917065-chr9:86592190..86594994,2	MCF-7	breast:

No data

Variant related genes	Relation type
RMI1	TF binding region
HNRNPK	TF binding region
ENSG00000165115	Chromatin interaction
ENSG00000062716	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11140316	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12237297	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59409125	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73469392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471357	0.94[AFR][1000 genomes];1.00[AMR][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	chr9:86581200-86593000	Strong transcription	Placenta	Placenta
3	chr9:86581600-86592600	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr9:86581800-86592600	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:86582200-86592800	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr9:86583800-86592600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr9:86584600-86592800	Strong transcription	Colonic Mucosa	Colon
8	chr9:86585800-86592600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:86586000-86592800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:86586600-86592600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr9:86587400-86592600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:86587400-86593000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr9:86588400-86593000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr9:86588600-86592800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr9:86588600-86592800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr9:86589200-86593200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:86589400-86592600	Genic enhancers	Hela-S3	cervix
18	chr9:86589600-86592600	Genic enhancers	Brain Hippocampus Middle	brain
19	chr9:86589600-86593000	Genic enhancers	Brain Inferior Temporal Lobe	brain
20	chr9:86589800-86592600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr9:86589800-86592600	Genic enhancers	Brain Anterior Caudate	brain
22	chr9:86589800-86592800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr9:86590000-86594400	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr9:86590400-86592800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:86590600-86592600	Strong transcription	Fetal Muscle Leg	muscle
26	chr9:86590600-86592600	Weak transcription	Right Atrium	heart
27	chr9:86590600-86592800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:86590600-86593000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr9:86590600-86593800	Weak transcription	Gastric	stomach
30	chr9:86590600-86594000	Weak transcription	Spleen	Spleen
31	chr9:86590800-86593200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:86590800-86593200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:86590800-86593200	Weak transcription	Esophagus	oesophagus
34	chr9:86590800-86593200	Weak transcription	Lung	lung
35	chr9:86590800-86593200	Weak transcription	Pancreas	Pancrea
36	chr9:86590800-86593800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:86590800-86594400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:86591000-86593200	Weak transcription	Small Intestine	intestine
39	chr9:86591000-86593400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr9:86591000-86594400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
41	chr9:86591200-86592600	Genic enhancers	Fetal Lung	lung
42	chr9:86591200-86593000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
43	chr9:86591200-86593200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:86591200-86593200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:86591200-86594400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
46	chr9:86591400-86592600	Genic enhancers	Brain Cingulate Gyrus	brain
47	chr9:86591400-86592600	Enhancers	Fetal Brain Male	brain
48	chr9:86591400-86592600	Enhancers	Fetal Heart	heart
49	chr9:86591400-86592600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr9:86591400-86592800	Genic enhancers	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links