Variant report

Variant	rs1534165
Chromosome Location	chr3:133536917-133536918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133536393..133538407-chr3:133540406..133542123,3	K562	blood:
2	chr3:133536504..133538338-chr3:133544056..133545564,2	MCF-7	breast:
3	chr3:133536905..133538476-chr3:133539305..133541254,2	MCF-7	breast:
4	chr3:133378150..133381955-chr3:133535581..133539638,4	K562	blood:

Variant related genes	Relation type
ENSG00000242337	Chromatin interaction
ENSG00000163781	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11710936	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12490148	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs13079426	0.85[ASN][1000 genomes]
rs1358024	0.82[CEU][hapmap]
rs1830083	0.85[ASN][1000 genomes]
rs1830084	0.85[ASN][1000 genomes]
rs2293375	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs35332919	0.85[ASN][1000 genomes]
rs3811658	0.85[CHB][hapmap]
rs57847564	0.91[ASN][1000 genomes]
rs58851383	0.91[ASN][1000 genomes]
rs60142346	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6773354	0.90[ASN][1000 genomes]
rs6786236	0.84[ASN][1000 genomes]
rs6794945	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs73217233	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8177240	0.82[CHB][hapmap]
rs8177248	0.85[CHB][hapmap]
rs8177252	0.81[CHB][hapmap]
rs8177253	0.85[CHB][hapmap]
rs8177262	0.85[CHB][hapmap]
rs8177297	0.82[EUR][1000 genomes]
rs9813689	0.85[ASN][1000 genomes]
rs9871148	0.85[ASN][1000 genomes]
rs9882812	0.85[ASN][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1534165	SRPRB	Cis_1M	lymphoblastoid	RTeQTL
rs1534165	SRPRB	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133525400-133539000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:133525600-133538400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:133525600-133539000	Weak transcription	Gastric	stomach
4	chr3:133525600-133539200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:133525600-133541000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:133525800-133538800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:133525800-133538800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:133525800-133538800	Weak transcription	Stomach Mucosa	stomach
9	chr3:133525800-133541000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:133526200-133537400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:133526200-133540600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:133526200-133543400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:133526400-133537200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:133526400-133537400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:133526400-133540200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:133526400-133543800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr3:133526400-133544000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr3:133526400-133544000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:133526600-133537000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:133526600-133537000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:133526600-133537000	Strong transcription	Placenta	Placenta
22	chr3:133526600-133537200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:133526600-133537600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:133526600-133538000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:133526600-133539800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:133526600-133539800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:133526600-133543400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:133526600-133544800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr3:133526600-133544800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:133526800-133537200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:133526800-133537200	Strong transcription	HUVEC	blood vessel
32	chr3:133526800-133537600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:133526800-133538400	Weak transcription	Small Intestine	intestine
34	chr3:133526800-133542000	Strong transcription	NH-A	brain
35	chr3:133526800-133544000	Strong transcription	Liver	Liver
36	chr3:133526800-133544800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr3:133527000-133541400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr3:133527000-133545000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:133527200-133545000	Strong transcription	Dnd41	blood
40	chr3:133527400-133537800	Strong transcription	NHEK	skin
41	chr3:133527800-133537400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr3:133528000-133537400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr3:133528000-133543400	Strong transcription	Fetal Thymus	thymus
44	chr3:133528200-133537000	Strong transcription	Primary T cells from cord blood	blood
45	chr3:133528200-133537400	Strong transcription	GM12878-XiMat	blood
46	chr3:133529200-133545200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:133529400-133539000	Weak transcription	Fetal Brain Male	brain
48	chr3:133529400-133540600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:133529800-133537400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:133530000-133537600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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