Variant report

Variant	rs6592505
Chromosome Location	chr11:72711615-72711616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10793048	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10898885	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs11235620	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822039	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.92[ASN][1000 genomes]
rs12294037	0.91[CEU][hapmap];0.93[GIH][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap]
rs12419915	0.86[EUR][1000 genomes]
rs12805658	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12808517	0.82[CEU][hapmap]
rs1612659	0.90[ASN][1000 genomes]
rs1783575	1.00[GIH][hapmap];0.86[TSI][hapmap]
rs2187494	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[ASN][1000 genomes]
rs2366256	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3862794	0.84[CEU][hapmap]
rs3862796	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4394861	0.81[MEX][hapmap]
rs4400839	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944016	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs593753	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592500	0.84[CEU][hapmap]
rs6592509	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.89[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6592510	0.91[CEU][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs7102253	0.87[ASN][1000 genomes]
rs7108955	0.90[CEU][hapmap];0.89[JPT][hapmap]
rs7124723	0.86[EUR][1000 genomes]
rs7946861	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap]

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	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription 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	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6592505	MYEOV	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72636400-72712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
4	chr11:72666600-72721600	Weak transcription	Lung	lung
5	chr11:72669800-72721800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:72681800-72720200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr11:72682800-72721600	Weak transcription	Right Ventricle	heart
8	chr11:72684000-72712800	Weak transcription	Small Intestine	intestine
9	chr11:72684000-72721600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:72686600-72721600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:72687600-72722200	Weak transcription	NHLF	lung
12	chr11:72687600-72724200	Weak transcription	HMEC	breast
13	chr11:72688600-72721600	Weak transcription	Brain Germinal Matrix	brain
14	chr11:72689800-72717800	Weak transcription	Psoas Muscle	Psoas
15	chr11:72689800-72718400	Weak transcription	Fetal Intestine Small	intestine
16	chr11:72693400-72721600	Weak transcription	Left Ventricle	heart
17	chr11:72695600-72720400	Weak transcription	Adipose Nuclei	Adipose
18	chr11:72695800-72720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:72696000-72715400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:72696000-72720200	Weak transcription	Fetal Intestine Large	intestine
21	chr11:72696000-72720800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:72696000-72724000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:72697000-72718400	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:72697000-72721600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:72697200-72712600	Weak transcription	Fetal Lung	lung
26	chr11:72697200-72713400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:72697200-72720600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:72699200-72721600	Weak transcription	HSMM	muscle
29	chr11:72699600-72713600	Weak transcription	Placenta	Placenta
30	chr11:72699600-72720200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:72700000-72720800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:72700400-72719800	Weak transcription	Primary T cells from cord blood	blood
33	chr11:72700600-72718800	Weak transcription	Fetal Brain Female	brain
34	chr11:72700600-72720600	Weak transcription	Fetal Brain Male	brain
35	chr11:72700800-72711800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:72700800-72720400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:72701000-72712600	Weak transcription	A549	lung
38	chr11:72701000-72720200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:72701000-72721600	Weak transcription	Pancreas	Pancrea
40	chr11:72701000-72727200	Weak transcription	HUVEC	blood vessel
41	chr11:72701200-72721600	Weak transcription	Ovary	ovary
42	chr11:72701400-72713800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:72701600-72712800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:72705400-72721600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:72705600-72712000	Weak transcription	Fetal Thymus	thymus
46	chr11:72705600-72714000	Weak transcription	Dnd41	blood
47	chr11:72705600-72715400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:72705600-72720600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:72705600-72721000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:72708000-72712200	Weak transcription	Brain Inferior Temporal Lobe	brain

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