Variant report

Variant	rs291074
Chromosome Location	chr1:76536420-76536421
allele	A/T
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	JUND	chr1:76536314-76536434	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr1:76536280-76536727	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr1:76536094-76536886	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr1:76535999-76536939	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr1:76536228-76536746	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:76536322-76536660	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr1:76536122-76536877	SK-N-SH	brain:	n/a	n/a
8	JUND	chr1:76536182-76536787	SK-N-SH	brain:	n/a	n/a
9	MEF2A	chr1:76536183-76536666	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr1:76536078-76536878	SK-N-SH	brain:	n/a	n/a
11	NFIC	chr1:76536077-76536815	SK-N-SH	brain:	n/a	chr1:76536261-76536289
12	PBX3	chr1:76536133-76536837	SK-N-SH	brain:	n/a	n/a
13	TEAD4	chr1:76536130-76536812	SK-N-SH	brain:	n/a	n/a
14	EP300	chr1:76536117-76536900	SK-N-SH	brain:	n/a	n/a
15	FOSL2	chr1:76536181-76536754	SK-N-SH	brain:	n/a	n/a
16	MEF2A	chr1:76536074-76536840	SK-N-SH	brain:	n/a	chr1:76536721-76536729

Variant related genes	Relation type
ST6GALNAC3	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10493577	0.86[ASN][1000 genomes]
rs11803060	1.00[CHB][hapmap]
rs11803647	1.00[CHB][hapmap]
rs11808413	0.86[ASN][1000 genomes]
rs1251472	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251497	0.86[ASN][1000 genomes]
rs1340688	0.86[ASN][1000 genomes]
rs1370715	0.86[ASN][1000 genomes]
rs17097922	0.86[ASN][1000 genomes]
rs17097929	0.86[ASN][1000 genomes]
rs17097968	0.86[ASN][1000 genomes]
rs17097983	0.86[ASN][1000 genomes]
rs17097997	0.86[ASN][1000 genomes]
rs17098064	1.00[CHB][hapmap]
rs1890968	1.00[CHB][hapmap]
rs1934815	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:76531400-76538600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:76531400-76539800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:76532600-76540000	Weak transcription	Aorta	Aorta
4	chr1:76534600-76539200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:76534600-76539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:76534600-76539800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:76534600-76540000	Weak transcription	NHDF-Ad	bronchial
8	chr1:76534800-76538600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:76535000-76538600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:76535000-76539800	Weak transcription	A549	lung
11	chr1:76535000-76540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:76535200-76537000	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:76535200-76539200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:76535200-76539200	Weak transcription	NH-A	brain
15	chr1:76535200-76539400	Weak transcription	Adipose Nuclei	Adipose
16	chr1:76535200-76539400	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:76535200-76539600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:76535200-76539800	Weak transcription	Fetal Kidney	kidney
19	chr1:76535200-76539800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:76535200-76540000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:76535400-76539000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:76535400-76539200	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:76535400-76539200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:76535400-76539800	Weak transcription	Brain Substantia Nigra	brain
25	chr1:76535400-76539800	Weak transcription	Fetal Lung	lung
26	chr1:76535400-76539800	Weak transcription	Stomach Mucosa	stomach
27	chr1:76535600-76539200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:76535600-76539200	Weak transcription	Fetal Stomach	stomach
29	chr1:76535600-76539200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:76535600-76539800	Weak transcription	HUVEC	blood vessel
31	chr1:76536400-76536600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links