Variant report

Variant	rs74090225
Chromosome Location	chr1:71511360-71511361
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:71511217-71511673	K562	blood:	n/a	n/a
2	MYC	chr1:71510359-71511699	K562	blood:	n/a	chr1:71511075-71511082 chr1:71511074-71511083
3	BHLHE40	chr1:71510716-71511619	K562	blood:	n/a	n/a
4	HCFC1	chr1:71511349-71511657	K562	blood:	n/a	n/a
5	JUND	chr1:71510451-71511647	K562	blood:	n/a	n/a
6	POLR2A	chr1:71511257-71511738	K562	blood:	n/a	n/a
7	POLR2A	chr1:71511304-71511686	K562	blood:	n/a	n/a
8	TBL1XR1	chr1:71510635-71511611	K562	blood:	n/a	n/a
9	ELK1	chr1:71511219-71511419	K562	blood:	n/a	n/a
10	POLR2A	chr1:71511239-71511624	K562	blood:	n/a	n/a
11	ZNF384	chr1:71511268-71512530	K562	blood:	n/a	n/a
12	TAF1	chr1:71511249-71511637	K562	blood:	n/a	n/a
13	POLR2A	chr1:71510621-71513837	K562	blood:	n/a	n/a
14	ZMIZ1	chr1:71510776-71511619	K562	blood:	n/a	n/a
15	POLR2A	chr1:71511040-71511789	SK-N-MC	brain:	n/a	n/a
16	TBP	chr1:71510636-71511671	K562	blood:	n/a	n/a
17	RCOR1	chr1:71510395-71511637	K562	blood:	n/a	n/a
18	MAZ	chr1:71510583-71511654	K562	blood:	n/a	chr1:71511075-71511082 chr1:71511074-71511083
19	UBTF	chr1:71511190-71511599	K562	blood:	n/a	n/a
20	HEY1	chr1:71511316-71511625	K562	blood:	n/a	n/a
21	MAFK	chr1:71511181-71511589	K562	blood:	n/a	n/a
22	UBTF	chr1:71511232-71511716	K562	blood:	n/a	n/a
23	YY1	chr1:71511346-71511634	K562	blood:	n/a	n/a
24	MYC	chr1:71510533-71511712	K562	blood:	n/a	chr1:71511075-71511082 chr1:71511074-71511083
25	ELF1	chr1:71511220-71511668	K562	blood:	n/a	chr1:71511455-71511468

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71510894..71514340-chr1:71523075..71528309,6	K562	blood:
2	chr1:71217715..71220280-chr1:71509356..71511477,2	K562	blood:
3	chr1:71240165..71242218-chr1:71510173..71512188,2	K562	blood:
4	chr1:71164353..71167028-chr1:71509072..71511419,2	K562	blood:
5	chr1:70978338..70980257-chr1:71510997..71512703,2	K562	blood:
6	chr1:71113661..71115986-chr1:71510232..71513062,3	K562	blood:
7	chr1:71002710..71005624-chr1:71510534..71512998,2	K562	blood:
8	chr1:70876526..70879847-chr1:71510519..71513789,3	K562	blood:
9	chr1:71373472..71375942-chr1:71510520..71512137,2	K562	blood:

No data

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

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs17090783	1.00[EUR][1000 genomes]
rs17090812	1.00[EUR][1000 genomes]
rs2790678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2790679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55645269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55819706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56341122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56351207	1.00[AMR][1000 genomes]
rs5669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56901340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57083913	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58051959	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58742204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58917466	1.00[AMR][1000 genomes]
rs74087146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087217	1.00[AMR][1000 genomes]
rs74087219	1.00[AMR][1000 genomes]
rs74087220	1.00[AMR][1000 genomes]
rs74087224	1.00[AMR][1000 genomes]
rs74089179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74089189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74089196	1.00[EUR][1000 genomes]
rs74090215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090230	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090258	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090260	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090263	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090271	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090292	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090908	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537247	1.00[AMR][1000 genomes];1.00[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:21 , 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	chr1:71510200-71511400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:71510600-71512200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr1:71510600-71513800	Active TSS	Aorta	Aorta
6	chr1:71510600-71514000	Active TSS	NHDF-Ad	bronchial
7	chr1:71510800-71511800	Active TSS	Right Atrium	heart
8	chr1:71510800-71512200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
9	chr1:71510800-71514200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:71511000-71512400	Active TSS	Colon Smooth Muscle	Colon
11	chr1:71511000-71513600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
12	chr1:71511000-71514000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:71511000-71514200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:71511000-71514400	Bivalent/Poised TSS	Fetal Kidney	kidney
15	chr1:71511200-71511600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:71511200-71511600	Flanking Active TSS	Pancreas	Pancrea
17	chr1:71511200-71512000	Bivalent/Poised TSS	Fetal Stomach	stomach
18	chr1:71511200-71512200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr1:71511200-71512200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
20	chr1:71511200-71512400	Active TSS	Gastric	stomach
21	chr1:71511200-71512600	Bivalent/Poised TSS	Colonic Mucosa	Colon

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