Variant report

Variant	rs3731191
Chromosome Location	chr9:21993048-21993049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:21992900-21997295	Hela-S3	cervix:	n/a	n/a
2	TCF7L2	chr9:21992923-21993665	HEK293	kidney:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:21801607..21803714-chr9:21992951..21995865,2	MCF-7	breast:
2	chr9:21811532..21820564-chr9:21988281..21997291,17	MCF-7	breast:
3	chr9:21811237..21820561-chr9:21988636..21997115,18	MCF-7	breast:
4	chr9:21992827..21995558-chr9:22007456..22010608,5	MCF-7	breast:
5	chr9:21991860..21994281-chr9:22027750..22030080,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDKN2B-AS1	TF binding region
ENSG00000266446	TF binding region
ENSG00000147883	Chromatin interaction
ENSG00000264545	Chromatin interaction
ENSG00000229298	Chromatin interaction
ENSG00000099810	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3731194	1.00[EUR][1000 genomes]
rs3731218	1.00[EUR][1000 genomes]
rs56235436	1.00[EUR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21990000-21993200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr9:21990400-21993400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:21990400-21993400	Weak transcription	Spleen	Spleen
4	chr9:21990400-21994000	Weak transcription	Gastric	stomach
5	chr9:21990600-21993200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:21990800-21993400	Weak transcription	HSMM	muscle
7	chr9:21991200-21993400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:21991400-21993200	Weak transcription	NHDF-Ad	bronchial
9	chr9:21991600-21993400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:21991600-21995800	Active TSS	HMEC	breast
11	chr9:21991800-21993200	Weak transcription	Osteobl	bone
12	chr9:21991800-21993400	Active TSS	NH-A	brain
13	chr9:21991800-21993600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:21992000-21993400	Active TSS	GM12878-XiMat	blood
15	chr9:21992000-21996400	Active TSS	Dnd41	blood
16	chr9:21992400-21993400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr9:21992800-21993200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
18	chr9:21992800-21993200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:21992800-21993200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:21992800-21993400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr9:21992800-21994200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:21992800-21994200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr9:21992800-21996000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:21992800-21996200	Active TSS	Hela-S3	cervix
25	chr9:21993000-21993200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr9:21993000-21993200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:21993000-21993200	Bivalent Enhancer	Primary B cells from cord blood	blood
28	chr9:21993000-21993200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:21993000-21993200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr9:21993000-21993200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr9:21993000-21993400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr9:21993000-21993400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:21993000-21993400	Flanking Active TSS	NHLF	lung
34	chr9:21993000-21993600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:21993000-21993600	Enhancers	Primary B cells from peripheral blood	blood
36	chr9:21993000-21994200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:21993000-21994200	Flanking Active TSS	NHEK	skin
38	chr9:21993000-21996000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:21993000-21996200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links