Variant report

Variant	rs3810947
Chromosome Location	chr10:50821243-50821244
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	BACH1	chr10:50821165-50821429	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF263	chr10:50820585-50821686	HEK293-T-REx	kidney:	n/a	n/a
3	SIN3A	chr10:50820906-50821449	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr10:50818492-50822122	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr10:50820978-50821357	SK-N-MC	brain:	n/a	n/a
6	CTBP2	chr10:50819126-50822240	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr10:50820979-50821289	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC18A3-1	chr10:50821165-50821248	NONHSAT013316

Variant related genes	Relation type
CHAT	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10857517	0.82[CEU][hapmap];1.00[TSI][hapmap]
rs10857518	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3729496	0.95[JPT][hapmap]
rs3750752	0.82[CEU][hapmap];1.00[TSI][hapmap]
rs4838534	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4838537	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs7903315	0.91[JPT][hapmap]

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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1037405	chr10:50800817-50940545	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv550819	chr10:50815512-50835264	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3518245	chr10:50817146-50821244	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3518246	chr10:50817146-50821244	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50817800-50822200	Enhancers	Pancreas	Pancrea
2	chr10:50818400-50822400	Bivalent Enhancer	Fetal Brain Male	brain
3	chr10:50818800-50821400	Bivalent Enhancer	Fetal Intestine Small	intestine
4	chr10:50819200-50821400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:50819200-50821800	Bivalent Enhancer	Brain Hippocampus Middle	brain
6	chr10:50819400-50821600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
7	chr10:50819400-50821800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:50819400-50823000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr10:50819600-50821400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr10:50819600-50821400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:50819600-50822200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr10:50820000-50821800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:50820200-50822000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:50820200-50822400	Weak transcription	Right Atrium	heart
15	chr10:50820800-50821400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:50820800-50821600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:50820800-50821800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr10:50820800-50821800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:50820800-50822000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr10:50821000-50821800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:50821000-50821800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:50821000-50821800	Bivalent Enhancer	HMEC	breast
23	chr10:50821000-50822200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:50821000-50822400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:50821200-50821400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
26	chr10:50821200-50821400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
27	chr10:50821200-50821400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
28	chr10:50821200-50821400	Bivalent Enhancer	Fetal Brain Female	brain
29	chr10:50821200-50821400	Bivalent/Poised TSS	Placenta	Placenta
30	chr10:50821200-50821400	Flanking Bivalent TSS/Enh	A549	lung
31	chr10:50821200-50821400	Flanking Bivalent TSS/Enh	NHEK	skin
32	chr10:50821200-50821600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:50821200-50821600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr10:50821200-50821600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:50821200-50821800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr10:50821200-50821800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:50821200-50822200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr10:50821200-50822200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
39	chr10:50821200-50822200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
40	chr10:50821200-50822800	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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