Variant report

Variant	rs593753
Chromosome Location	chr11:72691440-72691441
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	chr11:72689559..72692269-chr11:72695713..72698108,2	K562	blood:
2	chr11:72686975..72688834-chr11:72691101..72692704,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10793048	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10898885	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs11235620	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11822039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12294037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12419915	0.87[AFR][1000 genomes]
rs12805658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs12808517	0.82[ASW][hapmap];0.91[CEU][hapmap]
rs1612659	0.90[ASN][1000 genomes]
rs1783575	0.93[GIH][hapmap];0.84[MEX][hapmap]
rs2187494	0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2366256	0.90[ASN][1000 genomes]
rs3862794	0.92[CEU][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]
rs3862796	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4394861	0.82[GIH][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs4400839	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4944016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4944804	0.82[ASW][hapmap]
rs519790	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs6592500	0.92[CEU][hapmap]
rs6592505	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]
rs6592509	0.91[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.91[ASN][1000 genomes]
rs6592510	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs663015	0.80[CHB][hapmap]
rs7102253	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7108955	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs7946861	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	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
3	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs593753	FGF4	cis	cerebellum	SCAN
rs593753	STARD10	cis	Whole Blood	GTEx
rs593753	ATG16L2	cis	parietal	SCAN
rs593753	MYEOV	cis	parietal	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72636200-72694800	Weak transcription	Adipose Nuclei	Adipose
2	chr11:72636400-72712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
5	chr11:72651400-72696600	Weak transcription	Brain Anterior Caudate	brain
6	chr11:72666600-72721600	Weak transcription	Lung	lung
7	chr11:72667000-72700600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:72669800-72721800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:72673000-72708000	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:72675000-72692000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:72675000-72692800	Weak transcription	HepG2	liver
12	chr11:72675200-72700600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:72675600-72696600	Weak transcription	Brain Substantia Nigra	brain
14	chr11:72675600-72696800	Weak transcription	Fetal Kidney	kidney
15	chr11:72675800-72700800	Weak transcription	Spleen	Spleen
16	chr11:72681800-72720200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:72682000-72695000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:72682000-72695600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:72682000-72701400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:72682000-72710600	Weak transcription	Aorta	Aorta
21	chr11:72682200-72695200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:72682200-72696600	Weak transcription	Colonic Mucosa	Colon
23	chr11:72682600-72696600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:72682800-72697200	Weak transcription	K562	blood
25	chr11:72682800-72700800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:72682800-72721600	Weak transcription	Right Ventricle	heart
27	chr11:72683000-72694800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:72683000-72706600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:72684000-72692600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:72684000-72701000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:72684000-72712800	Weak transcription	Small Intestine	intestine
32	chr11:72684000-72721600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:72684200-72694800	Weak transcription	Fetal Heart	heart
34	chr11:72684200-72695200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:72684200-72696600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:72684400-72692000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:72685400-72692200	Weak transcription	Left Ventricle	heart
38	chr11:72685600-72696800	Weak transcription	Ovary	ovary
39	chr11:72685800-72692200	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:72685800-72692200	Weak transcription	HSMMtube	muscle
41	chr11:72686600-72721600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:72687400-72697200	Weak transcription	Hela-S3	cervix
43	chr11:72687400-72697400	Weak transcription	NHEK	skin
44	chr11:72687400-72700600	Weak transcription	NH-A	brain
45	chr11:72687600-72692000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:72687600-72692200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:72687600-72693000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:72687600-72693000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:72687600-72694800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr11:72687600-72694800	Weak transcription	Osteobl	bone

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