Variant report

Variant	rs1868673
Chromosome Location	chr3:150187314-150187315
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150183043..150184831-chr3:150184961..150187685,2	MCF-7	breast:
2	chr3:150185308..150188037-chr3:150190947..150194724,4	K562	blood:
3	chr3:150185308..150187363-chr3:150191883..150194072,2	K562	blood:
4	chr3:150159431..150161352-chr3:150187171..150189025,2	K562	blood:
5	chr3:150179991..150182709-chr3:150186253..150188637,2	MCF-7	breast:
6	chr3:150126101..150131626-chr3:150185402..150190474,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10513374	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs10935800	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs11706245	0.86[ASN][1000 genomes]
rs12639090	0.81[JPT][hapmap]
rs13080841	0.88[ASN][1000 genomes]
rs13080858	0.88[ASN][1000 genomes]
rs13082720	0.90[ASN][1000 genomes]
rs1450335	0.90[ASN][1000 genomes]
rs1450336	0.90[ASN][1000 genomes]
rs1450344	1.00[CEU][hapmap];0.82[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1584586	0.87[JPT][hapmap]
rs16862651	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1868672	0.96[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2167177	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28514580	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2868425	0.81[JPT][hapmap]
rs34173517	0.85[ASN][1000 genomes]
rs4423794	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs4681615	0.90[ASN][1000 genomes]
rs4681618	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs4681619	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6762432	0.88[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs6770424	0.96[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6792759	1.00[CEU][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6810143	1.00[CEU][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7427177	0.90[ASN][1000 genomes]
rs7626725	0.90[ASN][1000 genomes]
rs7651353	0.90[ASN][1000 genomes]
rs7651989	0.91[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs9289810	0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs9784281	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9784335	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs9813752	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9826729	0.81[JPT][hapmap]
rs9846873	0.90[ASN][1000 genomes]
rs9882777	0.81[JPT][hapmap]

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	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1868673	UBQLN4	cis	cerebellum	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150172600-150191600	Weak transcription	Brain Angular Gyrus	brain
2	chr3:150176800-150187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:150176800-150187400	Weak transcription	Thymus	Thymus
4	chr3:150176800-150187600	Weak transcription	Esophagus	oesophagus
5	chr3:150176800-150187600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:150177000-150200600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:150177400-150187600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:150179000-150187600	Weak transcription	Fetal Thymus	thymus
9	chr3:150179200-150187400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:150179200-150201000	Weak transcription	Fetal Lung	lung
11	chr3:150180000-150192600	Weak transcription	Fetal Kidney	kidney
12	chr3:150184400-150188400	Enhancers	HUVEC	blood vessel
13	chr3:150185000-150187400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:150185000-150188200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:150185400-150188000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:150185600-150190400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:150185800-150188200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:150186000-150188400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:150186400-150187400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:150186400-150187400	Enhancers	Colonic Mucosa	Colon
21	chr3:150186400-150187800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:150186400-150188000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:150186400-150188000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:150186400-150188200	Enhancers	Placenta	Placenta
25	chr3:150186400-150188200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr3:150186400-150188400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:150186400-150189000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:150186600-150187600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:150186800-150187400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:150186800-150187400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:150186800-150188400	Enhancers	NHLF	lung
32	chr3:150187000-150187400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:150187000-150187400	Flanking Active TSS	HMEC	breast
34	chr3:150187000-150187400	Flanking Active TSS	NHEK	skin
35	chr3:150187000-150187800	Enhancers	Left Ventricle	heart
36	chr3:150187000-150187800	Enhancers	HSMMtube	muscle
37	chr3:150187000-150188000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr3:150187000-150188000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:150187000-150188000	Enhancers	Fetal Intestine Large	intestine
40	chr3:150187000-150188000	Enhancers	Pancreas	Pancrea
41	chr3:150187000-150188000	Flanking Active TSS	Hela-S3	cervix
42	chr3:150187000-150188200	Enhancers	HSMM	muscle
43	chr3:150187000-150188200	Flanking Active TSS	K562	blood
44	chr3:150187000-150188200	Enhancers	NHDF-Ad	bronchial
45	chr3:150187000-150188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:150187000-150188400	Enhancers	Fetal Intestine Small	intestine
47	chr3:150187000-150188400	Flanking Active TSS	A549	lung
48	chr3:150187000-150188400	Enhancers	Osteobl	bone
49	chr3:150187200-150187400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr3:150187200-150187400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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