Variant report

Variant	rs1355767
Chromosome Location	chr3:111416310-111416311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111413089..111417299-chr3:111419022..111422240,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1398747	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2036995	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2036996	0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35957576	0.89[ASN][1000 genomes]
rs62275506	0.90[ASN][1000 genomes]
rs7651713	0.82[TSI][hapmap]
rs867293	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]

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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1355767	TMPRSS7	cis	cerebellum	SCAN
rs1355767	ZBED2	cis	lymphoblastoid	seeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111406200-111426800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:111410200-111417200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr3:111410200-111426800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr3:111410200-111428400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:111410200-111433200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:111410600-111443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:111410800-111418200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:111410800-111419000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:111412200-111426800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:111412400-111426800	Weak transcription	Primary T cells from cord blood	blood
11	chr3:111412400-111426800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:111412800-111430800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:111413000-111427000	Weak transcription	Primary B cells from cord blood	blood
14	chr3:111413200-111418200	Weak transcription	GM12878-XiMat	blood
15	chr3:111413400-111418400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr3:111413600-111426800	Weak transcription	Fetal Intestine Small	intestine
17	chr3:111413600-111426800	Weak transcription	Fetal Thymus	thymus
18	chr3:111413800-111420000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:111413800-111422000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:111413800-111427200	Weak transcription	Fetal Intestine Large	intestine
21	chr3:111414400-111426800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr3:111414800-111420600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:111415000-111418600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:111415200-111418200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:111415200-111420600	Weak transcription	A549	lung
26	chr3:111415200-111423000	Weak transcription	HUVEC	blood vessel
27	chr3:111415200-111454200	Weak transcription	Small Intestine	intestine
28	chr3:111415400-111422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:111415600-111416800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:111415600-111417000	Weak transcription	NHDF-Ad	bronchial
31	chr3:111415600-111418200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr3:111415600-111430800	Weak transcription	Osteobl	bone
33	chr3:111415600-111431000	Weak transcription	HMEC	breast
34	chr3:111415600-111436000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:111415600-111436400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:111416200-111417800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:111416200-111426800	Weak transcription	NHEK	skin
38	chr3:111416200-111431200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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