Variant report

Variant	rs2070832
Chromosome Location	chr16:71487206-71487207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71482210..71487712-chr16:71492894..71496267,8	K562	blood:
2	chr16:71485371..71491957-chr16:71492064..71497509,13	K562	blood:
3	chr16:71486185..71488004-chr16:71489030..71491841,2	K562	blood:

Variant related genes	Relation type
ENSG00000167377	Chromatin interaction
ENSG00000247324	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10500558	0.89[ASN][1000 genomes]
rs11640165	0.89[ASN][1000 genomes]
rs11641492	0.89[ASN][1000 genomes]
rs11643101	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs11643216	0.89[ASN][1000 genomes]
rs11644434	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs11647749	0.90[ASN][1000 genomes]
rs12446461	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13331346	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1609868	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1609869	1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2004672	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2288486	0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.92[ASN][1000 genomes]
rs2288487	0.88[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2288488	0.92[ASN][1000 genomes]
rs2303788	0.88[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs28372238	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs310334	0.91[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35373081	0.89[ASN][1000 genomes]
rs35916432	0.82[ASN][1000 genomes]
rs36063092	0.84[ASN][1000 genomes]
rs3813743	0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3892120	0.86[AMR][1000 genomes]
rs4149498	0.88[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4503795	0.91[ASN][1000 genomes]
rs4620964	0.82[CEU][hapmap];0.90[AMR][1000 genomes]
rs58134724	0.91[ASN][1000 genomes]
rs58719913	0.89[ASN][1000 genomes]
rs6499523	0.91[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs7184543	0.88[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs7186241	0.90[ASN][1000 genomes]
rs7187165	0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7187354	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7188342	0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7192986	0.86[AMR][1000 genomes]
rs7199026	0.88[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs7199373	0.91[ASN][1000 genomes]
rs7200335	0.85[ASN][1000 genomes]
rs7200431	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7202662	0.88[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs7202953	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs730470	1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs732318	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74026831	0.90[ASN][1000 genomes]
rs74027246	0.89[ASN][1000 genomes]
rs8044068	0.86[ASN][1000 genomes]
rs8044561	1.00[ASW][hapmap];0.91[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8051212	0.91[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8053662	0.89[ASN][1000 genomes]
rs8058294	0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8058776	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8061078	0.91[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs9302623	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9926110	1.00[ASW][hapmap];0.91[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9928243	0.88[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs9933680	0.88[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs9935426	0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9936249	0.91[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9940771	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[ASN][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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2070832	DHODH	cis	cerebellum	SCAN
rs2070832	ZNF23	cis	brain	BrainEAC
rs2070832	HYDIN	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71478200-71487800	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr16:71479400-71489200	ZNF genes & repeats	Liver	Liver
3	chr16:71479600-71487800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:71479600-71488000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr16:71480600-71487800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr16:71480600-71488000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:71480600-71488200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:71480600-71491000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr16:71480800-71487600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
10	chr16:71480800-71488200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:71481000-71487600	ZNF genes & repeats	Psoas Muscle	Psoas
12	chr16:71481000-71487800	ZNF genes & repeats	Fetal Lung	lung
13	chr16:71481000-71489000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:71481200-71487600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:71481200-71487800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr16:71481600-71487800	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr16:71481600-71490400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr16:71481600-71493000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:71481800-71487800	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr16:71481800-71487800	ZNF genes & repeats	Colon Smooth Muscle	Colon
21	chr16:71481800-71488000	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr16:71481800-71491000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:71482000-71488000	ZNF genes & repeats	Left Ventricle	heart
24	chr16:71482000-71488000	ZNF genes & repeats	NHEK	skin
25	chr16:71482000-71488800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr16:71482000-71488800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
27	chr16:71482000-71489200	ZNF genes & repeats	GM12878-XiMat	blood
28	chr16:71482000-71489200	Strong transcription	HepG2	liver
29	chr16:71482000-71489600	ZNF genes & repeats	Fetal Stomach	stomach
30	chr16:71482000-71490200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:71482000-71490200	ZNF genes & repeats	Aorta	Aorta
32	chr16:71482000-71490600	ZNF genes & repeats	Ovary	ovary
33	chr16:71482000-71491000	ZNF genes & repeats	NHLF	lung
34	chr16:71482200-71487600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
35	chr16:71482200-71488400	ZNF genes & repeats	Spleen	Spleen
36	chr16:71482400-71490800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr16:71482400-71490800	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr16:71482600-71489600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
39	chr16:71483400-71491200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:71483600-71490800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:71484400-71488000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr16:71484600-71488200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:71484600-71488600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:71484600-71490800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:71484600-71494600	Weak transcription	HUVEC	blood vessel
46	chr16:71484600-71495200	Weak transcription	Fetal Heart	heart
47	chr16:71484600-71495400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr16:71484800-71488000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:71484800-71490400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:71484800-71490400	Strong transcription	Placenta	Placenta

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