Variant report

Variant	rs6537782
Chromosome Location	chr1:113762753-113762754
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113762744..113764884-chr1:113937680..113940514,2	MCF-7	breast:
2	chr1:113761686..113762754-chr1:113995460..113996204,3	MCF-7	breast:
3	chr1:113760807..113763384-chr1:113931040..113933988,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12136119	0.87[AMR][1000 genomes];0.84[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	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv2465	chr1:113731589-113776605	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6537782	EPS8L3	cis	cerebellum	SCAN
rs6537782	DENND2C	cis	cerebellum	SCAN
rs6537782	KCND3	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113758000-113768400	Weak transcription	Aorta	Aorta
2	chr1:113758600-113764000	Enhancers	Fetal Intestine Large	intestine
3	chr1:113759000-113762800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:113759000-113762800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:113759200-113763200	Enhancers	Fetal Intestine Small	intestine
6	chr1:113759400-113762800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:113760200-113763400	Weak transcription	Fetal Kidney	kidney
8	chr1:113760400-113766000	Weak transcription	Gastric	stomach
9	chr1:113761000-113790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:113761200-113762800	Enhancers	K562	blood
11	chr1:113761400-113763000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:113761600-113763000	Enhancers	Pancreas	Pancrea
13	chr1:113761800-113763000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:113762000-113762800	Active TSS	Lung	lung
15	chr1:113762000-113766200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:113762200-113763400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:113762200-113763800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:113762200-113766200	Weak transcription	Ovary	ovary
19	chr1:113762400-113762800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:113762400-113762800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:113762600-113763800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links