Variant report

Variant	rs10785493
Chromosome Location	chr12:44413076-44413077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1098877	1.00[EUR][1000 genomes]
rs1701087	1.00[EUR][1000 genomes]
rs2657574	1.00[AFR][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44402000-44432200	Weak transcription	Aorta	Aorta
3	chr12:44402800-44414600	Weak transcription	HSMMtube	muscle
4	chr12:44403600-44415600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:44404000-44422600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44404200-44414600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44404200-44422800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:44404400-44416400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:44409800-44414600	Weak transcription	GM12878-XiMat	blood
10	chr12:44410000-44415600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:44411600-44413400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:44411600-44413600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:44412000-44414800	Weak transcription	Fetal Brain Female	brain
14	chr12:44412200-44415000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:44412600-44413600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:44412800-44413400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:44413000-44413200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:44413000-44413200	Enhancers	Pancreas	Pancrea
19	chr12:44413000-44413400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:44413000-44413400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:44413000-44413600	Enhancers	HUES64 Cell Line	embryonic stem cell

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