Variant report

Variant	rs1626521
Chromosome Location	chr11:73714339-73714340
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	chr11:73714167..73717044-chr11:73777878..73780816,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11236006	0.93[JPT][hapmap]
rs11236008	0.93[JPT][hapmap]
rs11236028	0.93[JPT][hapmap]
rs11825568	0.81[CEU][hapmap];0.93[JPT][hapmap]
rs15763	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	0.94[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[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]
rs2632723	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2734827	1.00[JPT][hapmap]
rs2734828	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2734829	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2848557	0.86[JPT][hapmap]
rs4944874	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944880	0.83[CEU][hapmap];0.93[JPT][hapmap]
rs555964	0.93[JPT][hapmap]
rs668514	0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs699142	0.83[CEU][hapmap];0.80[JPT][hapmap]
rs7925988	0.93[JPT][hapmap]
rs826054	0.83[CEU][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap]
rs826057	0.83[CEU][hapmap];0.80[JPT][hapmap]
rs826058	0.83[CEU][hapmap];0.80[JPT][hapmap]
rs866650	0.82[CEU][hapmap];0.93[JPT][hapmap]
rs869616	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1626521	POLD3	cis	parietal	SCAN
rs1626521	KRTAP5-11	cis	cerebellum	SCAN
rs1626521	UCP2	cis	multi-tissue	Pritchard
rs1626521	UCP2	Cis_1M	lymphoblastoid	RTeQTL
rs1626521	MRPL48	cis	cerebellum	SCAN
rs1626521	PPME1	cis	cerebellum	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73703000-73719400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:73707000-73714400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:73707200-73714800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:73707400-73719800	Weak transcription	Dnd41	blood
5	chr11:73708000-73717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:73708600-73714800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:73708800-73714400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:73709000-73714400	Weak transcription	Gastric	stomach
10	chr11:73709000-73724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:73709400-73716600	Weak transcription	Small Intestine	intestine
12	chr11:73710000-73715800	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:73710400-73715800	Weak transcription	Fetal Intestine Large	intestine
15	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
16	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
17	chr11:73710800-73717000	Enhancers	K562	blood
18	chr11:73710800-73717800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:73710800-73722400	Weak transcription	NHDF-Ad	bronchial
20	chr11:73711000-73714400	Weak transcription	Pancreas	Pancrea
21	chr11:73711000-73715000	Strong transcription	Fetal Stomach	stomach
22	chr11:73711000-73715400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:73711000-73715400	Strong transcription	Fetal Intestine Small	intestine
24	chr11:73711000-73718400	Strong transcription	Fetal Brain Female	brain
25	chr11:73711000-73721200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:73711000-73729200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:73711200-73715000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:73711200-73716200	Weak transcription	GM12878-XiMat	blood
29	chr11:73711200-73718200	Strong transcription	Brain Germinal Matrix	brain
30	chr11:73711400-73714800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:73711400-73717000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr11:73711400-73717400	Strong transcription	Right Ventricle	heart
33	chr11:73711600-73714800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:73711600-73715200	Strong transcription	Fetal Thymus	thymus
35	chr11:73711600-73715400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:73711600-73715600	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr11:73711600-73715800	Strong transcription	Thymus	Thymus
38	chr11:73711600-73716600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:73711800-73714400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:73711800-73714400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:73711800-73714800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:73711800-73716000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr11:73711800-73716200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:73711800-73716600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:73711800-73717200	Strong transcription	Placenta	Placenta
46	chr11:73711800-73718200	Strong transcription	Lung	lung
47	chr11:73711800-73718200	Strong transcription	Spleen	Spleen
48	chr11:73711800-73720200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:73711800-73729200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:73712000-73715000	Strong transcription	Ovary	ovary

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