Variant report

Variant	rs15763
Chromosome Location	chr11:73711477-73711478
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	chr11:73699151..73702599-chr11:73708799..73712495,4	K562	blood:
2	chr11:73693160..73695633-chr11:73711332..73713417,2	K562	blood:

Variant related genes	Relation type
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11236006	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs11236008	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs11236028	0.93[JPT][hapmap]
rs11825568	0.93[JPT][hapmap]
rs1626521	0.88[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1685354	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306818	0.81[MEX][hapmap]
rs2306819	0.81[MEX][hapmap]
rs2306820	0.81[MEX][hapmap]
rs2632723	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2734827	1.00[JPT][hapmap]
rs2734828	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2734829	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848557	0.86[JPT][hapmap]
rs4944871	0.81[MEX][hapmap]
rs4944874	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4944880	0.93[JPT][hapmap]
rs555964	0.93[JPT][hapmap]
rs668514	0.95[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs699142	0.80[JPT][hapmap]
rs7925988	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs826054	0.83[CHD][hapmap];0.93[JPT][hapmap]
rs826057	0.80[JPT][hapmap]
rs826058	0.80[JPT][hapmap]
rs866650	0.93[JPT][hapmap]
rs869616	0.81[CEU][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs15763	POLD3	cis	parietal	SCAN
rs15763	UCP2	Cis_1M	lymphoblastoid	RTeQTL
rs15763	LRRC32	cis	parietal	SCAN
rs15763	RSF1	cis	parietal	SCAN
rs15763	PPME1	cis	cerebellum	SCAN
rs15763	MRPL48	cis	cerebellum	SCAN
rs15763	UCP2	cis	multi-tissue	Pritchard
rs15763	OR2AT4	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73702000-73711800	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:73702600-73711800	Weak transcription	Spleen	Spleen
3	chr11:73703000-73719400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:73706000-73713800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:73706400-73711800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:73706800-73712000	Weak transcription	Fetal Lung	lung
7	chr11:73706800-73713600	Weak transcription	Liver	Liver
8	chr11:73706800-73713800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:73707000-73714400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:73707200-73713600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr11:73707200-73714800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:73707400-73711600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:73707400-73711800	Enhancers	Primary B cells from cord blood	blood
14	chr11:73707400-73711800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:73707400-73713200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:73707400-73719800	Weak transcription	Dnd41	blood
17	chr11:73707600-73711600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr11:73707600-73711600	Weak transcription	Thymus	Thymus
19	chr11:73707600-73711800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr11:73708000-73717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:73708200-73713600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:73708600-73711800	Weak transcription	Lung	lung
23	chr11:73708600-73712200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:73708600-73714800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:73708800-73711800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:73708800-73712200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:73708800-73713400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:73708800-73714400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:73709000-73711800	Weak transcription	Placenta	Placenta
31	chr11:73709000-73713200	Weak transcription	A549	lung
32	chr11:73709000-73714200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:73709000-73714400	Weak transcription	Gastric	stomach
34	chr11:73709000-73724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:73709200-73712200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:73709200-73713000	Weak transcription	Aorta	Aorta
37	chr11:73709400-73711600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:73709400-73714200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:73709400-73716600	Weak transcription	Small Intestine	intestine
40	chr11:73709600-73711600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:73709800-73711600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:73709800-73713400	Weak transcription	Brain Substantia Nigra	brain
43	chr11:73709800-73713400	Weak transcription	HSMMtube	muscle
44	chr11:73709800-73714000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:73710000-73711600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:73710000-73711600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:73710000-73711800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:73710000-73712400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:73710000-73713600	Weak transcription	Left Ventricle	heart
50	chr11:73710000-73713800	Weak transcription	Brain Cingulate Gyrus	brain

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