Variant report

Variant	rs7595266
Chromosome Location	chr2:20440860-20440861
allele	C/T
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	POLR2A	chr2:20439972-20441032	GM12892	blood:	n/a	n/a
2	HEY1	chr2:20440725-20440924	K562	blood:	n/a	n/a
3	POLR2A	chr2:20440195-20441552	A549	lung:	n/a	n/a
4	POLR2A	chr2:20440594-20441010	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:20440540-20440871	GM12878	blood:	n/a	n/a
6	HEY1	chr2:20440706-20440887	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:20440479-20440978	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:20440757-20440903	A549	lung:	n/a	n/a
9	POLR2A	chr2:20440739-20440870	A549	lung:	n/a	n/a
10	POLR2A	chr2:20440495-20441018	GM12892	blood:	n/a	n/a
11	POLR2A	chr2:20440658-20440929	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr2:20440589-20440954	GM12891	blood:	n/a	n/a
13	POLR2A	chr2:20440762-20440868	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:20440701-20440896	A549	lung:	n/a	n/a
15	POLR2A	chr2:20440737-20440876	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:20440679-20440935	GM12891	blood:	n/a	n/a
17	POLR2A	chr2:20439884-20440997	GM12891	blood:	n/a	n/a
18	POLR2A	chr2:20440000-20440923	GM12891	blood:	n/a	n/a
19	POLR2A	chr2:20440117-20440980	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:20440644-20440917	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:20440744-20440874	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr2:20440430-20440997	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:20440574-20440973	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20422151..20423763-chr2:20440457..20442911,2	MCF-7	breast:
2	chr2:20437602..20439619-chr2:20440851..20444211,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235411	TF binding region
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10175853	0.88[ASN][1000 genomes]
rs10187080	0.91[ASN][1000 genomes]
rs10192042	0.88[ASN][1000 genomes]
rs10206974	0.85[ASN][1000 genomes]
rs1043400	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10460445	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10460449	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10460450	0.88[ASN][1000 genomes]
rs10460451	0.86[ASN][1000 genomes]
rs10495704	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10856797	0.91[ASN][1000 genomes]
rs11096650	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11096654	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11888357	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11895228	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11896241	0.89[ASN][1000 genomes]
rs11898408	0.81[EUR][1000 genomes]
rs11900127	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11902769	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11903745	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12373819	0.81[AMR][1000 genomes]
rs12465832	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12472685	0.99[ASN][1000 genomes]
rs12473500	0.87[ASN][1000 genomes]
rs12474897	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12478265	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13393733	0.99[ASN][1000 genomes]
rs13415389	0.81[AMR][1000 genomes]
rs17612703	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2072464	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080190	0.80[EUR][1000 genomes]
rs2110410	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2348703	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34678899	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3796066	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3821218	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57938873	0.81[AMR][1000 genomes]
rs59129757	0.81[AMR][1000 genomes]
rs62109740	0.81[AMR][1000 genomes]
rs62111433	0.83[AMR][1000 genomes]
rs62123442	0.99[ASN][1000 genomes]
rs6748274	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785217	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785218	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785278	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785282	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785295	0.82[EUR][1000 genomes]
rs72785297	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785298	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785300	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785301	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787406	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787409	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787411	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72787415	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72787433	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72787499	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72787501	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72788905	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs741188	0.81[EUR][1000 genomes]
rs7558385	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7558833	0.88[ASN][1000 genomes]
rs7563245	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7582642	0.88[ASN][1000 genomes]
rs9306890	0.88[ASN][1000 genomes]
rs9306891	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798036	chr2:20423264-20442631	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1846193	chr2:20423264-20442631	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1849406	chr2:20423264-20442631	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20426000-20447000	Weak transcription	GM12878-XiMat	blood
2	chr2:20431400-20446800	Weak transcription	Spleen	Spleen
3	chr2:20431800-20444200	Weak transcription	A549	lung
4	chr2:20431800-20446200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:20433000-20441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:20433000-20450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:20433000-20451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:20436200-20446600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:20436200-20447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:20436600-20452600	Weak transcription	Gastric	stomach
11	chr2:20436800-20441800	Weak transcription	Esophagus	oesophagus
12	chr2:20436800-20445800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:20437000-20446400	Weak transcription	Hela-S3	cervix
14	chr2:20437000-20447000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:20437000-20453000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:20437200-20441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20437600-20441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:20437800-20448000	Weak transcription	HMEC	breast
19	chr2:20438000-20445600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:20439400-20447200	Weak transcription	Primary B cells from cord blood	blood
21	chr2:20439800-20450200	Weak transcription	Brain Substantia Nigra	brain
22	chr2:20440200-20444400	Enhancers	Placenta	Placenta
23	chr2:20440600-20441000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:20440600-20443000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:20440600-20446600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:20440600-20447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:20440600-20451000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:20440600-20452600	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:20440800-20445600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:20440800-20452200	Weak transcription	Brain Angular Gyrus	brain
31	chr2:20440800-20452600	Weak transcription	Brain Inferior Temporal Lobe	brain

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