Variant report

Variant	rs72896510
Chromosome Location	chr1:47655519-47655520
allele	A/C
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	chr1:47655501-47656322	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F6	chr1:47655501-47656443	A549	lung:	n/a	chr1:47656177-47656192
3	SMARCB1	chr1:47655466-47656552	Hela-S3	cervix:	n/a	n/a
4	MAX	chr1:47655403-47656532	A549	lung:	n/a	chr1:47656026-47656036
5	POLR2A	chr1:47655407-47656357	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47654478..47656007-chr1:47798811..47801587,2	MCF-7	breast:

Variant related genes	Relation type
PDZK1IP1	TF binding region
ENSG00000162368	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11211493	1.00[AMR][1000 genomes]
rs11211518	1.00[AMR][1000 genomes]
rs12057442	1.00[AMR][1000 genomes]
rs12061831	1.00[AMR][1000 genomes]
rs12094830	1.00[AMR][1000 genomes]
rs12097707	1.00[AMR][1000 genomes]
rs2088998	1.00[AMR][1000 genomes]
rs58846358	1.00[AMR][1000 genomes]
rs58921777	1.00[AMR][1000 genomes]
rs59984926	1.00[AMR][1000 genomes]
rs6682932	1.00[AMR][1000 genomes]
rs72892699	1.00[AMR][1000 genomes]
rs72894542	1.00[AMR][1000 genomes]
rs72894554	1.00[AMR][1000 genomes]
rs72894556	1.00[AMR][1000 genomes]
rs72894561	1.00[AMR][1000 genomes]
rs72894566	1.00[AMR][1000 genomes]
rs72894577	1.00[AMR][1000 genomes]
rs72896513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7545862	1.00[AMR][1000 genomes]
rs8034132	1.00[AMR][1000 genomes]
rs9436428	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr1:47652600-47659000	Enhancers	Fetal Intestine Small	intestine
2	chr1:47652800-47658400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:47653200-47658400	Enhancers	K562	blood
4	chr1:47653400-47655800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:47653600-47656600	Enhancers	HepG2	liver
6	chr1:47654400-47655600	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:47654400-47655800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:47654600-47659200	Enhancers	Fetal Intestine Large	intestine
9	chr1:47655000-47655800	Active TSS	Gastric	stomach
10	chr1:47655000-47656000	Flanking Active TSS	Stomach Mucosa	stomach
11	chr1:47655000-47656400	Flanking Active TSS	Pancreas	Pancrea
12	chr1:47655000-47656600	Enhancers	A549	lung
13	chr1:47655000-47659000	Enhancers	Lung	lung
14	chr1:47655000-47659200	Enhancers	Fetal Muscle Leg	muscle
15	chr1:47655200-47655600	Active TSS	Small Intestine	intestine
16	chr1:47655200-47655800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr1:47655200-47655800	Flanking Active TSS	Esophagus	oesophagus
18	chr1:47655200-47656000	Flanking Active TSS	Colonic Mucosa	Colon
19	chr1:47655200-47656000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr1:47655200-47656400	Enhancers	Right Atrium	heart
21	chr1:47655200-47658400	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:47655200-47659000	Enhancers	Adipose Nuclei	Adipose
23	chr1:47655400-47655600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr1:47655400-47655600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:47655400-47655600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:47655400-47655600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:47655400-47655600	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:47655400-47655600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr1:47655400-47655600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:47655400-47655800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:47655400-47655800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:47655400-47655800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:47655400-47656200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr1:47655400-47656200	Enhancers	Hela-S3	cervix
35	chr1:47655400-47656600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:47655400-47657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:47655400-47658200	Enhancers	HMEC	breast
38	chr1:47655400-47658800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:47655400-47659400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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