Variant report

Variant	rs56376612
Chromosome Location	chr2:10359826-10359827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10347041..10349707-chr2:10357445..10360186,3	K562	blood:
2	chr2:10359643..10362171-chr2:10579070..10581168,2	K562	blood:
3	chr2:10359472..10362167-chr2:10583974..10586621,2	K562	blood:
4	chr2:10260780..10262972-chr2:10358625..10360506,2	K562	blood:
5	chr2:10350742..10353533-chr2:10359619..10362115,2	K562	blood:

Variant related genes	Relation type
ENSG00000272524	Chromatin interaction
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4668669	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55969366	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv818977	chr2:10333767-10393038	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv34981	chr2:10341468-10384302	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv35171	chr2:10341468-10384302	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756904	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv2759024	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv873637	chr2:10349858-10381434	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv962058	chr2:10350771-10376962	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv873638	chr2:10351852-10381434	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 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	chr2:10339400-10362000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:10343600-10360400	Weak transcription	HSMM	muscle
3	chr2:10349800-10362400	Weak transcription	Spleen	Spleen
4	chr2:10350400-10375200	Weak transcription	Right Atrium	heart
5	chr2:10357200-10360400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:10357200-10362400	Weak transcription	K562	blood
7	chr2:10357400-10361400	Weak transcription	A549	lung
8	chr2:10357600-10360200	Weak transcription	Fetal Brain Female	brain
9	chr2:10357600-10360400	Weak transcription	Osteobl	bone
10	chr2:10357600-10361200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:10357800-10360200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:10357800-10360800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:10357800-10362400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:10357800-10368400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:10358000-10361400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:10358400-10361600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:10358600-10361600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:10358600-10363800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:10358800-10361800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:10359000-10362800	Enhancers	Brain Germinal Matrix	brain
21	chr2:10359400-10360200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:10359600-10364600	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links