Variant report

Variant	rs4895361
Chromosome Location	chr5:118474205-118474206
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	POLR2A	chr5:118472259-118477661	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-701P	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11241484	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959739	0.89[EUR][1000 genomes]
rs12719254	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145134	1.00[CHD][hapmap]
rs4243445	1.00[CEU][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4576176	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588617	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595177	0.92[CEU][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6860432	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896024	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327090	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4895361	DTWD2	cis	cerebellum	SCAN
rs4895361	COMMD10	cis	cerebellum	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118438600-118484400	Weak transcription	NHLF	lung
3	chr5:118447400-118485400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:118450400-118496800	Weak transcription	Stomach Mucosa	stomach
5	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:118456800-118483200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:118456800-118484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:118465600-118483000	Weak transcription	HUVEC	blood vessel
10	chr5:118468800-118476800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:118469200-118475600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr5:118469200-118476600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr5:118469200-118483600	Weak transcription	Fetal Heart	heart
14	chr5:118469400-118482200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:118469600-118475600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr5:118469600-118476400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr5:118469800-118482200	Weak transcription	HSMM	muscle
18	chr5:118469800-118484400	Weak transcription	NHDF-Ad	bronchial
19	chr5:118470000-118503200	Weak transcription	NH-A	brain
20	chr5:118470400-118476000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr5:118470400-118476800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
22	chr5:118470600-118474400	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr5:118470600-118475600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr5:118470800-118482600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:118471000-118474600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:118471200-118474800	ZNF genes & repeats	Fetal Brain Female	brain
27	chr5:118471400-118474600	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr5:118471400-118482400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:118471600-118475000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
30	chr5:118472600-118483000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:118472600-118483400	Weak transcription	Small Intestine	intestine
32	chr5:118472600-118487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:118472800-118475800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:118472800-118482800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:118472800-118483400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr5:118472800-118484400	Weak transcription	Psoas Muscle	Psoas
37	chr5:118472800-118484600	Weak transcription	Spleen	Spleen
38	chr5:118472800-118504000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:118472800-118505000	Weak transcription	HepG2	liver
40	chr5:118473000-118475400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:118473000-118481400	Weak transcription	Liver	Liver
42	chr5:118473000-118481800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:118473000-118482400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:118473000-118482800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:118473000-118483000	Weak transcription	Left Ventricle	heart
46	chr5:118473000-118483400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:118473000-118483400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:118473000-118483400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:118473000-118483400	Weak transcription	Brain Substantia Nigra	brain
50	chr5:118473000-118483400	Weak transcription	Right Ventricle	heart

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