Variant report

Variant	rs1043147
Chromosome Location	chr3:133544998-133544999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133543993..133545850-chr3:133548692..133550579,2	MCF-7	breast:
2	chr3:133543192..133545782-chr3:133562940..133564670,2	MCF-7	breast:
3	chr3:133544073..133548736-chr3:133549293..133553405,5	K562	blood:
4	chr3:133536504..133538338-chr3:133544056..133545564,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPRB-1	chr3:133543100-133546531	NONHSAT092207

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11710936	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12637730	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs16840994	0.83[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16841004	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249322	0.85[JPT][hapmap]
rs2293373	0.94[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2293374	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2293375	0.89[CEU][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2692667	0.83[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2692668	0.93[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs2692670	0.85[JPT][hapmap]
rs2715607	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2715608	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2715609	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811659	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7626433	0.82[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][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	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv3413841	chr3:133542762-133545960	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1043147	SRPRB	Cis_1M	lymphoblastoid	RTeQTL
rs1043147	SRPRB	cis	multi-tissue	Pritchard

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133527000-133545000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:133527200-133545000	Strong transcription	Dnd41	blood
3	chr3:133529200-133545200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:133533600-133545000	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:133533600-133546200	Strong transcription	Stomach Smooth Muscle	stomach
6	chr3:133537400-133545600	Strong transcription	Fetal Muscle Leg	muscle
7	chr3:133538400-133545000	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:133538400-133545000	Strong transcription	Spleen	Spleen
9	chr3:133538400-133545600	Strong transcription	Primary B cells from cord blood	blood
10	chr3:133538400-133546200	Strong transcription	Primary T cells from cord blood	blood
11	chr3:133538400-133546200	Strong transcription	Fetal Intestine Small	intestine
12	chr3:133538400-133546200	Strong transcription	Fetal Stomach	stomach
13	chr3:133538600-133545800	Strong transcription	Fetal Brain Female	brain
14	chr3:133539000-133545000	Strong transcription	Gastric	stomach
15	chr3:133539400-133572200	Weak transcription	Fetal Brain Male	brain
16	chr3:133540000-133546400	Weak transcription	Psoas Muscle	Psoas
17	chr3:133540600-133547000	Strong transcription	Brain Germinal Matrix	brain
18	chr3:133540800-133547600	Weak transcription	Fetal Heart	heart
19	chr3:133541000-133545600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:133541000-133551000	Weak transcription	Brain Angular Gyrus	brain
21	chr3:133541400-133545000	Strong transcription	Left Ventricle	heart
22	chr3:133541400-133545200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:133541400-133546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:133541400-133558200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:133541400-133559600	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:133541600-133546400	Weak transcription	HMEC	breast
27	chr3:133541600-133547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:133541600-133547400	Weak transcription	Hela-S3	cervix
29	chr3:133541800-133545200	Strong transcription	Pancreas	Pancrea
30	chr3:133542000-133546000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:133542000-133546200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:133542000-133546400	Weak transcription	NH-A	brain
33	chr3:133542000-133547400	Weak transcription	HepG2	liver
34	chr3:133542000-133547600	Weak transcription	NHLF	lung
35	chr3:133542000-133555400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:133542000-133563600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:133542600-133546200	Strong transcription	Brain Anterior Caudate	brain
38	chr3:133542600-133557800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:133542800-133545200	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr3:133542800-133545600	Strong transcription	Brain Hippocampus Middle	brain
41	chr3:133542800-133569000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr3:133543000-133545000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr3:133543000-133553600	Weak transcription	Fetal Lung	lung
44	chr3:133543200-133546600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr3:133543200-133547600	Weak transcription	K562	blood
46	chr3:133543400-133545000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:133543400-133545000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:133543400-133545200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr3:133543400-133546000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:133543400-133546200	Weak transcription	Fetal Thymus	thymus

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