Variant report

Variant	rs12001689
Chromosome Location	chr9:100571134-100571135
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100563780..100567057-chr9:100567518..100571604,5	K562	blood:
2	chr9:100570017..100571579-chr9:100571587..100573962,2	K562	blood:

Variant related genes	Relation type
ENSG00000236130	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16924908	1.00[AMR][1000 genomes]
rs16924982	1.00[AMR][1000 genomes]
rs7037853	1.00[AMR][1000 genomes]
rs7049203	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043753	chr9:100458109-100599265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100566600-100574000	Weak transcription	Pancreas	Pancrea
2	chr9:100567000-100571800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:100568800-100575000	Enhancers	HMEC	breast
4	chr9:100568800-100575000	Enhancers	NHEK	skin
5	chr9:100569000-100574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:100569400-100574800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:100569400-100575000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:100569600-100573000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:100570000-100571200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:100570200-100571200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr9:100570200-100571200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:100570200-100572400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr9:100570200-100572600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr9:100570400-100571800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:100570400-100572800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr9:100570600-100571600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:100570600-100572000	Enhancers	HUVEC	blood vessel
18	chr9:100570600-100572800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:100570600-100574200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:100571000-100571400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:100571000-100571600	Weak transcription	Right Atrium	heart
22	chr9:100571000-100572400	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links