Variant report

Variant	rs12069861
Chromosome Location	chr1:45788256-45788257
allele	A/G
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	chr1:45788204-45788482	SK-N-SH	brain:	n/a	chr1:45788329-45788340
2	NFIC	chr1:45788243-45788718	GM12878	blood:	n/a	n/a
3	JUND	chr1:45788240-45788492	HepG2	liver:	n/a	chr1:45788329-45788340

No.	Distal block	Cell Line	Cell type
1	chr1:45787017..45789450-chr1:45790302..45793910,3	K562	blood:
2	chr1:45769529..45771862-chr1:45787888..45789985,2	K562	blood:
3	chr1:45767853..45771862-chr1:45786144..45789985,4	K562	blood:

Variant related genes	Relation type
HPDL	TF binding region
ENSG00000186603	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11808204	1.00[CEU][hapmap]
rs12082486	1.00[LWK][hapmap]
rs12137389	1.00[LWK][hapmap]
rs6683505	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45783200-45788600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:45785400-45788600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:45785600-45788400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:45786000-45791800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:45786200-45788600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:45786200-45789400	Weak transcription	K562	blood
7	chr1:45786200-45791200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:45786200-45791200	Weak transcription	Spleen	Spleen
9	chr1:45786400-45791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:45786400-45792200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:45787200-45788600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:45787200-45796600	Weak transcription	HepG2	liver
13	chr1:45787400-45788600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:45787400-45788600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:45787400-45788600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:45787400-45788600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:45787400-45791200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:45788000-45788400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:45788000-45788600	Enhancers	GM12878-XiMat	blood
20	chr1:45788200-45788600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links