Variant report

Variant	rs929273
Chromosome Location	chr22:30640595-30640596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

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	chr22:30631062-30645095	IMR90	lung:	n/a	n/a
3	MAZ	chr22:30633617-30643724	IMR90	lung:	n/a	chr22:30642443-30642453 chr22:30641422-30641431 chr22:30642906-30642916 chr22:30634865-30634874 chr22:30640700-30640710
4	POLR2A	chr22:30633461-30651267	A549	lung:	n/a	n/a
5	POLR2A	chr22:30640309-30646586	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr22:30639359-30648158	MCF-7	breast:	n/a	n/a
7	CHD1	chr22:30633082-30643695	IMR90	lung:	n/a	chr22:30642644-30642654
8	POLR2A	chr22:30639962-30640822	U87	brain:	n/a	n/a
9	POLR2A	chr22:30634469-30646541	HCT-116	colon:	n/a	n/a
10	POLR2A	chr22:30639962-30640828	U87	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30640594-30640644	HEK293	kidney:	embryo
2	chr22:30640594-30640644	HNPCEpiC	eye:	n/a
3	chr22:30640594-30640644	NHBE	bronchial:	n/a
4	chr22:30640594-30640644	GM19239	blood:	n/a
5	chr22:30640594-30640644	AG04450	lung:	fetal
6	chr22:30640594-30640644	NB4	blood:	n/a
7	chr22:30640594-30640644	CMK	blood:	n/a
8	chr22:30640594-30640644	AG10803	skin:	n/a
9	chr22:30640594-30640644	Hepatocyte	liver:	n/a
10	chr22:30640594-30640644	BE2_C	brain:	n/a
11	chr22:30640594-30640644	MCF-7	breast:	n/a
12	chr22:30640594-30640644	HRE	kidney:	n/a
13	chr22:30640594-30640644	Jurkat	blood:	n/a
14	chr22:30640594-30640644	K562	blood:	n/a
15	chr22:30640594-30640644	AG04449	skin:	fetal
16	chr22:30640594-30640644	HepG2	liver:	n/a
17	chr22:30640594-30640644	HCF	heart:	n/a
18	chr22:30640594-30640644	ProgFib	skin:	n/a
19	chr22:30640594-30640644	GM12891	blood:	n/a
20	chr22:30640594-30640644	HUVEC	blood vessel:	n/a
21	chr22:30640594-30640644	GM12878	blood:	n/a
22	chr22:30640594-30640644	RPTEC	kidney:	n/a
23	chr22:30640594-30640644	HIPEpiC	eye:	n/a
24	chr22:30640594-30640644	ECC-1	luminal epithelium:	n/a
25	chr22:30640594-30640644	HCM	heart:	n/a
26	chr22:30640594-30640644	T-47D	breast:	n/a
27	chr22:30640594-30640644	HMEC	breast:	n/a
28	chr22:30640594-30640644	Caco-2	colon:	n/a
29	chr22:30640594-30640644	H1-hESC	embryonic stem cell:	embryo
30	chr22:30640594-30640644	HEEpiC	esophagus:	n/a
31	chr22:30640594-30640644	HPAEpiC	pulmonary alveolar:	n/a
32	chr22:30640594-30640644	HRCEpiC	kidney:	n/a
33	chr22:30640594-30640644	GM12892	blood:	n/a
34	chr22:30640594-30640644	GM06990	blood:	n/a
35	chr22:30640594-30640644	LNCaP	prostate:	n/a
36	chr22:30640594-30640644	NHDF-neo	bronchial:	n/a
37	chr22:30640594-30640644	SAEC	small airway:	n/a
38	chr22:30640594-30640644	A549	lung:	n/a
39	chr22:30640594-30640644	AoSMC	blood vessel:	n/a
40	chr22:30640594-30640644	NH-A	brain:	n/a
41	chr22:30640594-30640644	PANC-1	pancreas:	n/a
42	chr22:30640594-30640644	SK-N-SH_RA	brain:	n/a
43	chr22:30640594-30640644	HCPEpiC	choroid plexus:	n/a
44	chr22:30640594-30640644	Hela-S3	cervix:	n/a
45	chr22:30640594-30640644	SK-N-SH	brain:	n/a
46	chr22:30640594-30640644	HRPEpiC	eye:	n/a
47	chr22:30640594-30640644	NT2-D1	testis:	n/a
48	chr22:30640594-30640644	MCF10A-Er-Src	breast:	n/a
49	chr22:30640594-30640644	PFSK-1	brain:	n/a
50	chr22:30640594-30640644	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30640436..30641388-chr3:72941786..72942689,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268812	TF binding region
ENSG00000268812	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13054238	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1557833	0.92[ASN][1000 genomes]
rs2073946	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2267153	0.91[CHB][hapmap]
rs3753082	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761427	0.91[CHB][hapmap]
rs929271	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs929272	0.87[CEU][hapmap]
rs9606708	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30631400-30641600	Weak transcription	Right Atrium	heart
2	chr22:30632000-30641400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr22:30632400-30640800	Weak transcription	Lung	lung
4	chr22:30632600-30641000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:30632600-30641400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr22:30632600-30645200	Weak transcription	Hela-S3	cervix
7	chr22:30634000-30646800	Genic enhancers	A549	lung
8	chr22:30635000-30641000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:30635000-30641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:30635200-30641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:30635200-30641800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr22:30635400-30640800	Strong transcription	Fetal Intestine Small	intestine
13	chr22:30635600-30641200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:30635600-30641400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:30635600-30641600	Weak transcription	Esophagus	oesophagus
16	chr22:30635800-30641400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr22:30635800-30641600	Weak transcription	Ovary	ovary
18	chr22:30636600-30641200	Transcr. at gene 5' and 3'	HSMM	muscle
19	chr22:30637000-30641800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr22:30637200-30640600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
21	chr22:30637200-30641400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:30637200-30641400	Transcr. at gene 5' and 3'	Osteobl	bone
23	chr22:30637200-30641600	Weak transcription	GM12878-XiMat	blood
24	chr22:30637400-30641000	Strong transcription	Fetal Intestine Large	intestine
25	chr22:30637400-30641200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
26	chr22:30637600-30641800	Weak transcription	Primary B cells from cord blood	blood
27	chr22:30638000-30640800	Transcr. at gene 5' and 3'	NH-A	brain
28	chr22:30638400-30641200	Transcr. at gene 5' and 3'	HSMMtube	muscle
29	chr22:30638800-30642800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
30	chr22:30639000-30640800	Genic enhancers	HepG2	liver
31	chr22:30639000-30641400	Transcr. at gene 5' and 3'	NHLF	lung
32	chr22:30639400-30641400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:30639400-30641600	Enhancers	NHDF-Ad	bronchial
34	chr22:30639600-30641600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr22:30639600-30641800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:30639800-30640800	Genic enhancers	HMEC	breast
37	chr22:30639800-30641600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr22:30639800-30641800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:30640000-30641000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:30640000-30641200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr22:30640000-30641200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:30640000-30641200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:30640000-30641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr22:30640000-30641600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr22:30640000-30641600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr22:30640200-30640600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr22:30640200-30640800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:30640200-30640800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:30640200-30640800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr22:30640200-30641000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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