Variant report

Variant	rs3753082
Chromosome Location	chr22:30638721-30638722
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	POLR2A	chr22:30634332-30646592	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr22:30638569-30638791	A549	lung:	n/a	n/a
3	POLR2A	chr22:30638704-30638988	HCT-116	colon:	n/a	n/a
4	POLR2A	chr22:30631062-30645095	IMR90	lung:	n/a	n/a
5	MAZ	chr22:30633617-30643724	IMR90	lung:	n/a	chr22:30642443-30642453 chr22:30641422-30641431 chr22:30642906-30642916 chr22:30634865-30634874 chr22:30640700-30640710
6	POLR2A	chr22:30633461-30651267	A549	lung:	n/a	n/a
7	CHD1	chr22:30633082-30643695	IMR90	lung:	n/a	chr22:30642644-30642654
8	POLR2A	chr22:30634469-30646541	HCT-116	colon:	n/a	n/a
9	POLR2A	chr22:30638642-30640121	PANC-1	pancreas:	n/a	n/a
10	TCF12	chr22:30638452-30639035	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000268812	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13054238	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1557833	0.96[ASN][1000 genomes]
rs2073946	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3761427	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs929271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929273	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9606708	0.84[AFR][1000 genomes];0.84[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	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30631400-30639800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:30631400-30641600	Weak transcription	Right Atrium	heart
3	chr22:30631800-30639400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:30632000-30641400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr22:30632400-30639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:30632400-30640800	Weak transcription	Lung	lung
7	chr22:30632600-30639400	Weak transcription	NHDF-Ad	bronchial
8	chr22:30632600-30641000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:30632600-30641400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:30632600-30645200	Weak transcription	Hela-S3	cervix
11	chr22:30633800-30640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:30634000-30640400	Weak transcription	Dnd41	blood
13	chr22:30634000-30646800	Genic enhancers	A549	lung
14	chr22:30635000-30639600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:30635000-30639800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:30635000-30641000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:30635000-30641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:30635200-30638800	Weak transcription	Gastric	stomach
19	chr22:30635200-30639000	Genic enhancers	NHLF	lung
20	chr22:30635200-30639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:30635200-30641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:30635200-30641800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr22:30635400-30640800	Strong transcription	Fetal Intestine Small	intestine
24	chr22:30635600-30639600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:30635600-30641200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr22:30635600-30641400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:30635600-30641600	Weak transcription	Esophagus	oesophagus
28	chr22:30635800-30639000	Weak transcription	HepG2	liver
29	chr22:30635800-30641400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr22:30635800-30641600	Weak transcription	Ovary	ovary
31	chr22:30636600-30638800	Genic enhancers	Fetal Stomach	stomach
32	chr22:30636600-30639600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:30636600-30641200	Transcr. at gene 5' and 3'	HSMM	muscle
34	chr22:30637000-30638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr22:30637000-30638800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:30637000-30638800	Weak transcription	Colonic Mucosa	Colon
37	chr22:30637000-30641800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr22:30637200-30640200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr22:30637200-30640600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
40	chr22:30637200-30641400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:30637200-30641400	Transcr. at gene 5' and 3'	Osteobl	bone
42	chr22:30637200-30641600	Weak transcription	GM12878-XiMat	blood
43	chr22:30637400-30640400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr22:30637400-30641000	Strong transcription	Fetal Intestine Large	intestine
45	chr22:30637400-30641200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
46	chr22:30637600-30641800	Weak transcription	Primary B cells from cord blood	blood
47	chr22:30637800-30639000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr22:30637800-30639800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr22:30637800-30640000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr22:30638000-30639400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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