Variant report

Variant	rs2744903
Chromosome Location	chr1:71511811-71511812
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:71511268-71512530	K562	blood:	n/a	n/a
2	POLR2A	chr1:71510621-71513837	K562	blood:	n/a	n/a
3	POLR2A	chr1:71511798-71514436	SK-N-MC	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71510894..71514340-chr1:71523075..71528309,6	K562	blood:
2	chr1:71240165..71242218-chr1:71510173..71512188,2	K562	blood:
3	chr1:70978338..70980257-chr1:71510997..71512703,2	K562	blood:
4	chr1:71511577..71513859-chr1:71544920..71548466,4	K562	blood:
5	chr1:71113661..71115986-chr1:71510232..71513062,3	K562	blood:
6	chr1:71002710..71005624-chr1:71510534..71512998,2	K562	blood:
7	chr1:70876526..70879847-chr1:71510519..71513789,3	K562	blood:
8	chr1:71373472..71375942-chr1:71510520..71512137,2	K562	blood:

No data

Variant related genes	Relation type
ZRANB2-AS1	TF binding region
ENSG00000235079	Chromatin interaction
ENSG00000132485	Chromatin interaction
ENSG00000229956	Chromatin interaction
ENSG00000116761	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10493482	0.80[EUR][1000 genomes]
rs11578414	0.83[EUR][1000 genomes]
rs11800532	0.85[EUR][1000 genomes]
rs11801478	0.85[EUR][1000 genomes]
rs11808123	0.80[EUR][1000 genomes]
rs12402425	0.84[EUR][1000 genomes]
rs12409826	0.85[EUR][1000 genomes]
rs1418448	0.80[EUR][1000 genomes]
rs17090804	0.85[EUR][1000 genomes]
rs2744901	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2744909	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2817867	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57667850	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6699719	0.80[EUR][1000 genomes]
rs72942304	0.85[EUR][1000 genomes]
rs7528792	0.85[EUR][1000 genomes]
rs7545836	0.85[EUR][1000 genomes]
rs7554527	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][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	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
3	esv1850593	chr1:71444149-71514969	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71508800-71512400	Active TSS	K562	blood
2	chr1:71509000-71512200	Active TSS	Adipose Nuclei	Adipose
3	chr1:71510600-71512200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
4	chr1:71510600-71513800	Active TSS	Aorta	Aorta
5	chr1:71510600-71514000	Active TSS	NHDF-Ad	bronchial
6	chr1:71510800-71512200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr1:71510800-71514200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:71511000-71512400	Active TSS	Colon Smooth Muscle	Colon
9	chr1:71511000-71513600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
10	chr1:71511000-71514000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:71511000-71514200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:71511000-71514400	Bivalent/Poised TSS	Fetal Kidney	kidney
13	chr1:71511200-71512000	Bivalent/Poised TSS	Fetal Stomach	stomach
14	chr1:71511200-71512200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr1:71511200-71512200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
16	chr1:71511200-71512400	Active TSS	Gastric	stomach
17	chr1:71511200-71512600	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr1:71511400-71512000	Enhancers	Right Ventricle	heart
19	chr1:71511400-71513400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
20	chr1:71511400-71514200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:71511600-71512000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:71511600-71512000	Bivalent Enhancer	Placenta	Placenta
23	chr1:71511600-71512200	Active TSS	Pancreas	Pancrea
24	chr1:71511800-71512000	Weak transcription	Right Atrium	heart

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