Variant report

Variant	rs4576176
Chromosome Location	chr5:118453771-118453772
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118453288..118453823-chr5:118482934..118483702,2	K562	blood:
2	chr5:118442391..118447973-chr5:118448057..118454025,9	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11241484	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959739	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12719254	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145134	1.00[CHD][hapmap]
rs4243445	1.00[CEU][hapmap];0.80[GIH][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs4588617	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895361	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]
rs6595175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595177	0.92[CEU][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6860432	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896024	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327090	1.00[AFR][1000 genomes];0.83[EUR][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	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	esv3511406	chr5:118409810-118459495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3511407	chr5:118409863-118459482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4576176	DTWD2	cis	cerebellum	SCAN
rs4576176	COMMD10	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118407800-118456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:118409000-118471200	Weak transcription	Gastric	stomach
3	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:118414400-118472200	Weak transcription	Pancreas	Pancrea
5	chr5:118415400-118471600	Weak transcription	Right Ventricle	heart
6	chr5:118417000-118459200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:118417200-118453800	Weak transcription	K562	blood
8	chr5:118424400-118454400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:118427000-118458200	Weak transcription	Spleen	Spleen
10	chr5:118427800-118455800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:118430200-118471400	Weak transcription	Colonic Mucosa	Colon
12	chr5:118430800-118472200	Weak transcription	Esophagus	oesophagus
13	chr5:118431000-118472200	Weak transcription	Small Intestine	intestine
14	chr5:118432800-118459200	Weak transcription	Fetal Brain Female	brain
15	chr5:118433000-118466800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:118433000-118468600	Weak transcription	Fetal Heart	heart
17	chr5:118433600-118456000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:118434000-118457200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr5:118434200-118471000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:118435600-118458200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:118436000-118454200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:118436000-118455600	Weak transcription	Lung	lung
23	chr5:118438600-118484400	Weak transcription	NHLF	lung
24	chr5:118439400-118457200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:118440000-118455400	Weak transcription	Ovary	ovary
26	chr5:118440200-118455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:118442000-118465200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:118442200-118472200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:118442400-118465200	Weak transcription	Brain Angular Gyrus	brain
30	chr5:118442600-118454200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:118443200-118472200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:118443400-118457400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr5:118443600-118454200	Weak transcription	NH-A	brain
34	chr5:118443800-118457000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:118444000-118472000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:118444800-118471200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:118445000-118455200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:118445400-118457800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:118445600-118467200	Weak transcription	A549	lung
40	chr5:118445800-118455800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:118447400-118485400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:118448200-118455200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:118448800-118455600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:118448800-118471600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:118449000-118454800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:118449200-118457000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr5:118449200-118457200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr5:118449400-118455400	Weak transcription	Fetal Intestine Small	intestine
49	chr5:118449400-118457200	Strong transcription	Adipose Nuclei	Adipose
50	chr5:118449600-118456800	Strong transcription	Primary T cells fromperipheralblood	blood

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