Variant report

Variant	rs3766695
Chromosome Location	chr1:175142638-175142639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175065484..175067807-chr1:175139999..175142698,2	K562	blood:
2	chr1:175141823..175144035-chr1:175148495..175150973,2	MCF-7	breast:
3	chr1:175142412..175143966-chr1:175161330..175163872,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235750	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1008459	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs12136973	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2272785	0.81[CHB][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap]
rs2861158	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766686	0.81[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs3766690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766691	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	nsv522101	chr1:175109517-175151183	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv528874	chr1:175140319-175151183	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3766695	KIAA0040	cis	lymphoblastoid	seeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175126800-175148800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:175127000-175148400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:175127200-175147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:175127400-175144200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:175127400-175149400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:175129200-175159600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:175130200-175152600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:175130400-175143400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:175135000-175152600	Weak transcription	Aorta	Aorta
10	chr1:175135000-175158400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:175135800-175146000	Weak transcription	Colonic Mucosa	Colon
12	chr1:175135800-175146000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:175136000-175145200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:175136000-175145400	Weak transcription	Ovary	ovary
15	chr1:175136000-175151600	Weak transcription	Fetal Stomach	stomach
16	chr1:175136000-175157600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:175136200-175145000	Weak transcription	Fetal Thymus	thymus
18	chr1:175136200-175146800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:175136600-175145200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:175137400-175145400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:175138000-175143200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:175138000-175148000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:175138400-175145200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:175139200-175143400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:175139200-175145400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:175139400-175148400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:175140000-175144400	Strong transcription	HMEC	breast
28	chr1:175140200-175142800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:175140200-175143400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr1:175140200-175145400	Weak transcription	Thymus	Thymus
31	chr1:175140200-175145600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:175140200-175146000	Weak transcription	Right Ventricle	heart
33	chr1:175140200-175146600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:175140200-175147800	Strong transcription	Liver	Liver
35	chr1:175140400-175143400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:175140400-175145600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:175140600-175143400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr1:175140600-175143400	Weak transcription	Hela-S3	cervix
39	chr1:175140600-175143800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:175140600-175145400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:175140600-175146000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:175140600-175146000	Weak transcription	Pancreas	Pancrea
43	chr1:175140600-175147200	Weak transcription	Gastric	stomach
44	chr1:175140800-175143400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:175140800-175143400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:175140800-175145400	Weak transcription	Fetal Intestine Small	intestine
47	chr1:175140800-175146000	Weak transcription	Lung	lung
48	chr1:175140800-175148200	Weak transcription	Esophagus	oesophagus
49	chr1:175140800-175149200	Weak transcription	Small Intestine	intestine
50	chr1:175141000-175143200	Weak transcription	K562	blood

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