Variant report

Variant	rs873023
Chromosome Location	chr2:180045213-180045214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180045016..180046890-chr2:180047637..180050152,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10192426	0.88[YRI][hapmap]
rs11884516	0.81[YRI][hapmap]
rs11894870	0.88[YRI][hapmap]
rs11898291	0.88[YRI][hapmap]
rs13013868	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13026497	0.81[YRI][hapmap]
rs1374378	0.88[YRI][hapmap]
rs1446674	0.88[YRI][hapmap]
rs1490999	0.95[ASN][1000 genomes]
rs2008999	0.88[YRI][hapmap]
rs2289992	0.88[YRI][hapmap]
rs2847	0.88[YRI][hapmap]
rs4585064	0.88[YRI][hapmap]
rs4894082	0.82[TSI][hapmap]
rs6433767	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707081	0.88[YRI][hapmap]
rs6722382	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736098	0.88[YRI][hapmap]
rs6742744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757681	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608882	0.88[YRI][hapmap]
rs9653299	0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs873023	DNAJC10	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179975800-180047600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:179977400-180049000	Weak transcription	HSMMtube	muscle
3	chr2:179980000-180056800	Weak transcription	HSMM	muscle
4	chr2:179996200-180047600	Weak transcription	NH-A	brain
5	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
6	chr2:180004800-180046000	Weak transcription	Spleen	Spleen
7	chr2:180005800-180053600	Weak transcription	Primary T cells from cord blood	blood
8	chr2:180006600-180051000	Weak transcription	HUVEC	blood vessel
9	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:180008600-180048400	Weak transcription	Small Intestine	intestine
11	chr2:180015000-180054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:180015000-180056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:180015000-180060600	Weak transcription	Lung	lung
14	chr2:180015200-180046200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:180015200-180047200	Weak transcription	Placenta	Placenta
16	chr2:180015400-180046000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:180015400-180049800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
19	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:180016000-180049000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:180016000-180054200	Weak transcription	NHDF-Ad	bronchial
22	chr2:180016200-180054000	Weak transcription	Osteobl	bone
23	chr2:180023000-180052800	Weak transcription	Fetal Heart	heart
24	chr2:180024200-180045800	Weak transcription	GM12878-XiMat	blood
25	chr2:180024400-180048600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:180026400-180048800	Weak transcription	Fetal Intestine Small	intestine
27	chr2:180030400-180055400	Weak transcription	Thymus	Thymus
28	chr2:180030800-180046000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:180030800-180050800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:180031200-180052000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:180031400-180050000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:180031800-180045600	Weak transcription	Fetal Brain Female	brain
33	chr2:180032200-180050800	Weak transcription	NHEK	skin
34	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:180033000-180047800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:180033000-180049600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:180036200-180048000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:180036600-180051800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:180036600-180053200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:180037400-180045600	Strong transcription	Primary B cells from cord blood	blood
41	chr2:180037600-180045400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr2:180037600-180047800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:180038000-180045800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:180039000-180048800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:180039200-180045800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:180040200-180046200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:180040800-180051000	Weak transcription	Fetal Intestine Large	intestine
49	chr2:180041000-180051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:180041000-180054800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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