Variant report

Variant	rs11600803
Chromosome Location	chr11:87014552-87014553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17149916	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2212616	1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs2298571	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs34021269	0.93[EUR][1000 genomes]
rs35344503	0.91[EUR][1000 genomes]
rs35664384	0.90[EUR][1000 genomes]
rs35767157	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3737363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61904533	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936130	0.91[CEU][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2829956	chr11:86872504-87025059	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv898074	chr11:86963330-87034696	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11600803	C11orf73	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86992000-87017600	Weak transcription	Aorta	Aorta
2	chr11:86992600-87020600	Weak transcription	Liver	Liver
3	chr11:86995200-87018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:87004000-87032600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:87006400-87030600	Weak transcription	Dnd41	blood
6	chr11:87008400-87017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:87010200-87017400	Weak transcription	Small Intestine	intestine
8	chr11:87010200-87037200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:87010600-87018000	Weak transcription	Gastric	stomach
10	chr11:87010600-87036800	Weak transcription	Psoas Muscle	Psoas
11	chr11:87010800-87017400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:87011800-87024000	Weak transcription	Fetal Brain Female	brain
13	chr11:87011800-87036800	Weak transcription	Primary B cells from cord blood	blood
14	chr11:87012000-87014800	Weak transcription	Fetal Kidney	kidney
15	chr11:87012000-87017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:87012000-87017400	Weak transcription	Ovary	ovary
17	chr11:87012000-87024600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:87012000-87032200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:87012000-87034200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:87012000-87040400	Weak transcription	Fetal Intestine Small	intestine
21	chr11:87012200-87018000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:87012200-87020400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:87012400-87017600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:87012400-87030400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:87012400-87032200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:87012600-87015200	Weak transcription	Left Ventricle	heart
27	chr11:87012600-87017400	Weak transcription	Adipose Nuclei	Adipose
28	chr11:87012600-87017400	Weak transcription	Fetal Thymus	thymus
29	chr11:87012600-87017400	Weak transcription	Spleen	Spleen
30	chr11:87012600-87017400	Weak transcription	K562	blood
31	chr11:87012600-87017600	Weak transcription	Right Atrium	heart
32	chr11:87012600-87017600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:87012600-87017800	Weak transcription	Pancreas	Pancrea
34	chr11:87012600-87019200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:87012600-87019400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:87012600-87030200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:87012600-87031000	Weak transcription	Primary T cells from cord blood	blood
38	chr11:87012600-87032200	Weak transcription	Brain Anterior Caudate	brain
39	chr11:87012600-87032200	Weak transcription	Fetal Intestine Large	intestine
40	chr11:87012600-87036000	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:87012600-87036400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:87012800-87015200	Weak transcription	Fetal Stomach	stomach
43	chr11:87012800-87044200	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:87013200-87024000	Weak transcription	Esophagus	oesophagus
45	chr11:87013200-87025600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:87013200-87032400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:87013200-87034400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:87013400-87015200	Weak transcription	Fetal Lung	lung
49	chr11:87013400-87016600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:87013400-87021200	Weak transcription	HSMMtube	muscle

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