Variant report

Variant	rs7626433
Chromosome Location	chr3:133543917-133543918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133543192..133545782-chr3:133562940..133564670,2	MCF-7	breast:

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

Extended variants
information (count: 22 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1043147	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]
rs12637730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16840994	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16841004	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2249322	0.84[JPT][hapmap]
rs2293373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293375	0.86[GIH][hapmap]
rs2692667	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2692668	0.88[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs2692670	0.84[JPT][hapmap]
rs2715607	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2715608	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2715609	0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs3811659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs57847564	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58851383	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6773354	0.89[AMR][1000 genomes];0.94[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	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7626433	SRPRB	cis	parietal	SCAN
rs7626433	SRPRB	Cis_1M	lymphoblastoid	RTeQTL
rs7626433	SRPRB	cis	lymphoblastoid	seeQTL
rs7626433	ENSG00000144867	cis	multi-tissue	Pritchard
rs7626433	RAB6B	cis	parietal	SCAN
rs7626433	SRPRB	cis	multi-tissue	Pritchard

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133526400-133544000	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr3:133526400-133544000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:133526600-133544800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr3:133526600-133544800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr3:133526800-133544000	Strong transcription	Liver	Liver
6	chr3:133526800-133544800	Strong transcription	Duodenum Mucosa	Duodenum
7	chr3:133527000-133545000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:133527200-133545000	Strong transcription	Dnd41	blood
9	chr3:133529200-133545200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:133533600-133545000	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:133533600-133546200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr3:133537400-133545600	Strong transcription	Fetal Muscle Leg	muscle
13	chr3:133537800-133544800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:133538000-133544800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:133538200-133544000	Strong transcription	Lung	lung
16	chr3:133538200-133544200	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr3:133538200-133544400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:133538200-133544600	Strong transcription	Primary hematopoietic stem cells	blood
19	chr3:133538200-133544600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:133538200-133544600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr3:133538400-133544000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:133538400-133544000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:133538400-133544000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:133538400-133544000	Strong transcription	Colonic Mucosa	Colon
25	chr3:133538400-133544000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:133538400-133544200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:133538400-133544200	Strong transcription	Aorta	Aorta
28	chr3:133538400-133544800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:133538400-133544800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr3:133538400-133544800	Strong transcription	Ovary	ovary
31	chr3:133538400-133545000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:133538400-133545000	Strong transcription	Spleen	Spleen
33	chr3:133538400-133545600	Strong transcription	Primary B cells from cord blood	blood
34	chr3:133538400-133546200	Strong transcription	Primary T cells from cord blood	blood
35	chr3:133538400-133546200	Strong transcription	Fetal Intestine Small	intestine
36	chr3:133538400-133546200	Strong transcription	Fetal Stomach	stomach
37	chr3:133538600-133545800	Strong transcription	Fetal Brain Female	brain
38	chr3:133539000-133545000	Strong transcription	Gastric	stomach
39	chr3:133539400-133572200	Weak transcription	Fetal Brain Male	brain
40	chr3:133540000-133544400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:133540000-133546400	Weak transcription	Psoas Muscle	Psoas
42	chr3:133540200-133544800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:133540400-133544400	Weak transcription	Small Intestine	intestine
44	chr3:133540600-133547000	Strong transcription	Brain Germinal Matrix	brain
45	chr3:133540800-133544000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:133540800-133544600	Weak transcription	NHDF-Ad	bronchial
47	chr3:133540800-133547600	Weak transcription	Fetal Heart	heart
48	chr3:133541000-133544200	Strong transcription	Adipose Nuclei	Adipose
49	chr3:133541000-133544200	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:133541000-133544400	Strong transcription	Rectal Smooth Muscle	rectum

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