Variant report

Variant	rs1450344
Chromosome Location	chr3:150185745-150185746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150183043..150184831-chr3:150184961..150187685,2	MCF-7	breast:
2	chr3:150125474..150126977-chr3:150185415..150187191,2	K562	blood:
3	chr3:150062933..150064982-chr3:150184137..150186195,2	K562	blood:
4	chr3:150185308..150188037-chr3:150190947..150194724,4	K562	blood:
5	chr3:150185308..150187363-chr3:150191883..150194072,2	K562	blood:
6	chr3:150184544..150186408-chr3:150206634..150209384,2	K562	blood:
7	chr3:150126101..150131626-chr3:150185402..150190474,9	MCF-7	breast:
8	chr3:150148239..150149785-chr3:150183660..150186457,2	K562	blood:

No data

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	0.81[JPT][hapmap]
rs10935800	0.81[JPT][hapmap]
rs11706245	0.87[ASN][1000 genomes]
rs12639090	0.81[JPT][hapmap]
rs13080841	0.89[ASN][1000 genomes]
rs13080858	0.89[ASN][1000 genomes]
rs13082720	0.92[ASN][1000 genomes]
rs1450335	0.92[ASN][1000 genomes]
rs1450336	0.92[ASN][1000 genomes]
rs1584586	0.87[JPT][hapmap]
rs16862651	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1868672	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1868673	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]
rs2167177	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28514580	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2868425	0.81[JPT][hapmap]
rs34173517	0.85[ASN][1000 genomes]
rs4423794	0.81[JPT][hapmap]
rs4681615	0.92[ASN][1000 genomes]
rs4681618	0.86[JPT][hapmap]
rs4681619	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6762432	0.83[ASW][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.90[ASN][1000 genomes]
rs6770424	1.00[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6792759	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6810143	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7427177	0.92[ASN][1000 genomes]
rs7626725	0.92[ASN][1000 genomes]
rs7651353	0.82[CHB][hapmap];0.82[YRI][hapmap];0.92[ASN][1000 genomes]
rs7651989	0.83[ASW][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.92[ASN][1000 genomes]
rs9289810	0.86[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs9784281	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9784335	0.84[CHD][hapmap];0.81[JPT][hapmap]
rs9813752	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9826729	0.81[JPT][hapmap]
rs9846873	0.92[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
rs1450344	UBQLN4	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150165600-150187200	Weak transcription	Small Intestine	intestine
2	chr3:150166000-150186200	Weak transcription	Brain Germinal Matrix	brain
3	chr3:150172600-150191600	Weak transcription	Brain Angular Gyrus	brain
4	chr3:150173800-150186400	Weak transcription	Colonic Mucosa	Colon
5	chr3:150174600-150186400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:150176600-150186400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:150176600-150187000	Weak transcription	Fetal Intestine Small	intestine
8	chr3:150176800-150186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:150176800-150186800	Weak transcription	Primary T cells from cord blood	blood
10	chr3:150176800-150187000	Weak transcription	Fetal Intestine Large	intestine
11	chr3:150176800-150187000	Weak transcription	Left Ventricle	heart
12	chr3:150176800-150187000	Weak transcription	Pancreas	Pancrea
13	chr3:150176800-150187000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:150176800-150187200	Weak transcription	Brain Anterior Caudate	brain
15	chr3:150176800-150187200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:150176800-150187200	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:150176800-150187200	Weak transcription	Right Ventricle	heart
18	chr3:150176800-150187200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:150176800-150187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:150176800-150187400	Weak transcription	Thymus	Thymus
21	chr3:150176800-150187600	Weak transcription	Esophagus	oesophagus
22	chr3:150176800-150187600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:150177000-150200600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:150177200-150186400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:150177200-150186400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr3:150177200-150187200	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:150177400-150186400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:150177400-150187600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:150177600-150186000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:150177600-150186400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:150177600-150186400	Weak transcription	Placenta	Placenta
32	chr3:150177800-150185800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:150177800-150185800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:150178200-150186400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:150178200-150186400	Weak transcription	Hela-S3	cervix
36	chr3:150178800-150186200	Weak transcription	NHLF	lung
37	chr3:150179000-150187000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:150179000-150187000	Weak transcription	HSMMtube	muscle
39	chr3:150179000-150187000	Weak transcription	Osteobl	bone
40	chr3:150179000-150187200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:150179000-150187600	Weak transcription	Fetal Thymus	thymus
42	chr3:150179200-150187200	Weak transcription	Aorta	Aorta
43	chr3:150179200-150187200	Weak transcription	Stomach Mucosa	stomach
44	chr3:150179200-150187400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:150179200-150201000	Weak transcription	Fetal Lung	lung
46	chr3:150179400-150186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:150180000-150192600	Weak transcription	Fetal Kidney	kidney
48	chr3:150183000-150187200	Weak transcription	Fetal Heart	heart
49	chr3:150184000-150186400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:150184000-150187000	Weak transcription	NHDF-Ad	bronchial

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