Variant report

Variant	rs1005748
Chromosome Location	chr1:71511518-71511519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 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	POLR2A	chr1:71511239-71511624	K562	blood:	n/a	n/a
10	ZNF384	chr1:71511268-71512530	K562	blood:	n/a	n/a
11	TAF1	chr1:71511249-71511637	K562	blood:	n/a	n/a
12	POLR2A	chr1:71510621-71513837	K562	blood:	n/a	n/a
13	ZMIZ1	chr1:71510776-71511619	K562	blood:	n/a	n/a
14	POLR2A	chr1:71511040-71511789	SK-N-MC	brain:	n/a	n/a
15	TBP	chr1:71510636-71511671	K562	blood:	n/a	n/a
16	RCOR1	chr1:71510395-71511637	K562	blood:	n/a	n/a
17	MAZ	chr1:71510583-71511654	K562	blood:	n/a	chr1:71511075-71511082 chr1:71511074-71511083
18	UBTF	chr1:71511190-71511599	K562	blood:	n/a	n/a
19	HEY1	chr1:71511316-71511625	K562	blood:	n/a	n/a
20	MAFK	chr1:71511181-71511589	K562	blood:	n/a	n/a
21	EP300	chr1:71511387-71511642	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	ARID3A	chr1:71511378-71511609	K562	blood:	n/a	n/a
26	CTCF	chr1:71511385-71511536	K562	blood:	n/a	n/a
27	ELF1	chr1:71511220-71511668	K562	blood:	n/a	chr1:71511455-71511468

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:71511514-71511564	SKMC	muscle:	n/a
2	chr1:71511514-71511564	HAEpiC	amniotic membrane:	n/a
3	chr1:71511514-71511564	ovcar-3	ovarian:	n/a
4	chr1:71511514-71511564	AG09319	gingival:	n/a
5	chr1:71511514-71511564	H1-hESC	embryonic stem cell:	embryo
6	chr1:71511514-71511564	AG04450	lung:	fetal
7	chr1:71511514-71511564	PANC-1	pancreas:	n/a
8	chr1:71511514-71511564	NH-A	brain:	n/a
9	chr1:71511514-71511564	Caco-2	colon:	n/a
10	chr1:71511514-71511564	SK-N-MC	brain:	n/a
11	chr1:71511514-71511564	ProgFib	skin:	n/a
12	chr1:71511514-71511564	HRE	kidney:	n/a
13	chr1:71511514-71511564	BE2_C	brain:	n/a
14	chr1:71511514-71511564	AG09309	skin:	n/a
15	chr1:71511514-71511564	Hepatocyte	liver:	n/a
16	chr1:71511514-71511564	GM12878	blood:	n/a
17	chr1:71511514-71511564	A549	lung:	n/a
18	chr1:71511514-71511564	HCF	heart:	n/a
19	chr1:71511514-71511564	HIPEpiC	eye:	n/a
20	chr1:71511514-71511564	GM19239	blood:	n/a
21	chr1:71511514-71511564	HRCEpiC	kidney:	n/a
22	chr1:71511514-71511564	Jurkat	blood:	n/a
23	chr1:71511514-71511564	HMEC	breast:	n/a
24	chr1:71511514-71511564	LNCaP	prostate:	n/a
25	chr1:71511514-71511564	SK-N-SH_RA	brain:	n/a
26	chr1:71511514-71511564	NB4	blood:	n/a
27	chr1:71511514-71511564	NT2-D1	testis:	n/a
28	chr1:71511514-71511564	HepG2	liver:	n/a
29	chr1:71511514-71511564	HNPCEpiC	eye:	n/a
30	chr1:71511514-71511564	AG04449	skin:	fetal
31	chr1:71511514-71511564	HL-60	blood:	n/a
32	chr1:71511514-71511564	HRPEpiC	eye:	n/a
33	chr1:71511514-71511564	IMR90	lung:	fetal
34	chr1:71511514-71511564	SAEC	small airway:	n/a
35	chr1:71511514-71511564	Hela-S3	cervix:	n/a
36	chr1:71511514-71511564	HEK293	kidney:	embryo
37	chr1:71511514-71511564	U87	brain:	n/a
38	chr1:71511514-71511564	SK-N-SH	brain:	n/a
39	chr1:71511514-71511564	MCF-7	breast:	n/a
40	chr1:71511514-71511564	PFSK-1	brain:	n/a
41	chr1:71511514-71511564	GM12892	blood:	n/a
42	chr1:71511514-71511564	AG10803	skin:	n/a
43	chr1:71511514-71511564	MCF10A-Er-Src	breast:	n/a
44	chr1:71511514-71511564	BJ	skin:	n/a
45	chr1:71511514-71511564	HCT-116	colon:	n/a
46	chr1:71511514-71511564	T-47D	breast:	n/a
47	chr1:71511514-71511564	RPTEC	kidney:	n/a
48	chr1:71511514-71511564	ECC-1	luminal epithelium:	n/a
49	chr1:71511514-71511564	HCPEpiC	choroid plexus:	n/a
50	chr1:71511514-71511564	K562	blood:	n/a

(count:7 , 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	chr1:71113661..71115986-chr1:71510232..71513062,3	K562	blood:
5	chr1:71002710..71005624-chr1:71510534..71512998,2	K562	blood:
6	chr1:70876526..70879847-chr1:71510519..71513789,3	K562	blood:
7	chr1:71373472..71375942-chr1:71510520..71512137,2	K562	blood:

No data

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

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1005749	0.97[AMR][1000 genomes]
rs1008484	0.85[AMR][1000 genomes]
rs10736414	0.84[AMR][1000 genomes]
rs10789314	0.86[AMR][1000 genomes]
rs10889907	0.95[AMR][1000 genomes]
rs12119848	0.97[AMR][1000 genomes]
rs12122320	0.89[AMR][1000 genomes]
rs12131077	0.89[AMR][1000 genomes]
rs12131515	0.97[AMR][1000 genomes]
rs12142055	0.89[AMR][1000 genomes]
rs12145536	0.95[AMR][1000 genomes]
rs12145635	0.95[AMR][1000 genomes]
rs1474663	0.89[AMR][1000 genomes]
rs17542551	0.89[AMR][1000 genomes]
rs1983587	0.84[AMR][1000 genomes]
rs2206344	0.87[AMR][1000 genomes]
rs2244018	0.95[AMR][1000 genomes]
rs2247098	0.84[AMR][1000 genomes]
rs2421732	0.89[AMR][1000 genomes]
rs2744897	0.95[AMR][1000 genomes]
rs2744898	0.97[AMR][1000 genomes]
rs2744899	0.81[AMR][1000 genomes]
rs2744900	0.90[AMR][1000 genomes]
rs2744902	0.89[AMR][1000 genomes]
rs2744905	0.89[AMR][1000 genomes]
rs2744906	0.95[AMR][1000 genomes]
rs2744907	0.95[AMR][1000 genomes]
rs2744908	0.95[AMR][1000 genomes]
rs2744916	0.92[AMR][1000 genomes]
rs2744918	0.92[AMR][1000 genomes]
rs2817857	0.89[AMR][1000 genomes]
rs2817860	0.87[AMR][1000 genomes]
rs3000466	0.97[AMR][1000 genomes]
rs508513	0.84[AMR][1000 genomes]
rs61777272	0.89[AMR][1000 genomes]
rs61777274	0.89[AMR][1000 genomes]
rs61778911	0.97[AMR][1000 genomes]
rs61778912	0.89[AMR][1000 genomes]
rs6424415	0.89[AMR][1000 genomes]
rs653699	0.84[AMR][1000 genomes]
rs6670515	0.90[AMR][1000 genomes]
rs6679003	0.87[AMR][1000 genomes]
rs6690000	0.84[AMR][1000 genomes]
rs72671088	0.95[AMR][1000 genomes]
rs72671095	0.95[AMR][1000 genomes]
rs7529930	0.95[AMR][1000 genomes]
rs847735	0.81[AMR][1000 genomes]
rs880099	0.95[AMR][1000 genomes]
rs9970600	0.95[AMR][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	chr1:71510800-71511800	Active TSS	Right Atrium	heart
7	chr1:71510800-71512200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr1:71510800-71514200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:71511000-71512400	Active TSS	Colon Smooth Muscle	Colon
10	chr1:71511000-71513600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
11	chr1:71511000-71514000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:71511000-71514200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:71511000-71514400	Bivalent/Poised TSS	Fetal Kidney	kidney
14	chr1:71511200-71511600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:71511200-71511600	Flanking Active TSS	Pancreas	Pancrea
16	chr1:71511200-71512000	Bivalent/Poised TSS	Fetal Stomach	stomach
17	chr1:71511200-71512200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
18	chr1:71511200-71512200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
19	chr1:71511200-71512400	Active TSS	Gastric	stomach
20	chr1:71511200-71512600	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr1:71511400-71511600	Flanking Bivalent TSS/Enh	Placenta	Placenta
22	chr1:71511400-71512000	Enhancers	Right Ventricle	heart
23	chr1:71511400-71513400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr1:71511400-71514200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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