Variant report

Variant	rs7036656
Chromosome Location	chr9:21990457-21990458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr9:21989470-21990517	HEK293-T-REx	kidney:	n/a	chr9:21989988-21990009
2	TCF12	chr9:21990222-21990793	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:21987890-21991347	Hela-S3	cervix:	n/a	n/a
4	JUND	chr9:21990226-21990778	H1-hESC	embryonic stem cell:	n/a	chr9:21990313-21990322
5	ZZZ3	chr9:21990339-21990796	GM12878	blood:	n/a	n/a
6	KAP1	chr9:21989880-21990611	HEK293	kidney:	n/a	n/a
7	POLR2A	chr9:21989255-21990491	Hela-S3	cervix:	n/a	n/a
8	ZZZ3	chr9:21990401-21990857	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:21811532..21820564-chr9:21988281..21997291,17	MCF-7	breast:
2	chr9:21989926..21991515-chr9:22100273..22102679,2	MCF-7	breast:
3	chr9:21811237..21820561-chr9:21988636..21997115,18	MCF-7	breast:
4	chr9:21989242..21991114-chr9:22008985..22011051,2	MCF-7	breast:

Variant related genes	Relation type
CDKN2B-AS1	TF binding region
ENSG00000229298	Chromatin interaction
ENSG00000147883	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1333035	0.94[JPT][hapmap]
rs2027938	0.90[CEU][hapmap];0.83[JPT][hapmap]
rs2285327	0.94[JPT][hapmap]
rs2811708	0.90[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs2811712	0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3218002	0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3218005	0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3218007	0.88[ASN][1000 genomes]
rs3218010	0.94[JPT][hapmap]
rs3731211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3731217	0.94[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs3731245	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs3808845	0.94[JPT][hapmap]
rs974336	0.81[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv892745	chr9:21857244-22006273	Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv1821117	chr9:21933029-22012229	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv892746	chr9:21953137-22028801	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3492902	chr9:21971026-22006145	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv3492901	chr9:21971095-22006263	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21987200-21992800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:21988000-21993000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:21988400-21990800	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr9:21989400-21990600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:21989400-21990600	Flanking Active TSS	NHDF-Ad	bronchial
6	chr9:21989400-21990800	ZNF genes & repeats	GM12878-XiMat	blood
7	chr9:21989400-21991000	Transcr. at gene 5' and 3'	Hela-S3	cervix
8	chr9:21989400-21991200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:21989600-21990600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr9:21989600-21990600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:21989600-21990600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr9:21989600-21990600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr9:21990000-21990600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:21990000-21990600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:21990000-21991200	Enhancers	Osteobl	bone
16	chr9:21990000-21993200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:21990200-21990600	Flanking Active TSS	NHEK	skin
18	chr9:21990200-21990800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:21990400-21990600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr9:21990400-21990600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr9:21990400-21990600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr9:21990400-21990600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:21990400-21990600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:21990400-21990600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:21990400-21990600	Weak transcription	Pancreas	Pancrea
26	chr9:21990400-21990600	Bivalent Enhancer	HUVEC	blood vessel
27	chr9:21990400-21990800	Enhancers	HSMM	muscle
28	chr9:21990400-21990800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr9:21990400-21991000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:21990400-21991400	Enhancers	HMEC	breast
31	chr9:21990400-21991400	Flanking Active TSS	NH-A	brain
32	chr9:21990400-21991600	Active TSS	NHLF	lung
33	chr9:21990400-21993400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:21990400-21993400	Weak transcription	Spleen	Spleen
35	chr9:21990400-21994000	Weak transcription	Gastric	stomach

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