Variant report

Variant	rs759387
Chromosome Location	chr2:40548396-40548397
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40547974..40550483-chr2:40553546..40555162,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1002671	0.94[CEU][hapmap];0.84[CHB][hapmap];0.87[MEX][hapmap];0.80[ASN][1000 genomes]
rs10490053	0.94[CEU][hapmap];0.84[CHB][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap]
rs11902975	0.84[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs12995402	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.86[ASN][1000 genomes]
rs13001457	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs13001473	0.94[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs13005761	0.89[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs13031392	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17025783	0.80[ASN][1000 genomes]
rs17025800	0.89[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs17025804	0.94[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17025810	0.82[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs1990607	0.91[ASN][1000 genomes]
rs2192769	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs2192770	0.94[CEU][hapmap];0.84[CHB][hapmap]
rs2287051	0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2287053	0.87[ASN][1000 genomes]
rs34512805	0.88[ASN][1000 genomes]
rs34562238	0.88[ASN][1000 genomes]
rs34718894	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35042618	0.88[ASN][1000 genomes]
rs35264779	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35639785	0.87[ASN][1000 genomes]
rs35776185	0.81[ASN][1000 genomes]
rs35892964	0.87[ASN][1000 genomes]
rs35970998	0.87[ASN][1000 genomes]
rs35977357	0.83[ASN][1000 genomes]
rs4952403	0.86[ASN][1000 genomes]
rs4952404	0.84[CHB][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes]
rs4952603	0.84[CHB][hapmap];0.81[GIH][hapmap]
rs4952604	0.84[CHB][hapmap]
rs4952605	0.84[CHB][hapmap]
rs4952607	0.84[CHB][hapmap]
rs4952608	0.91[ASN][1000 genomes]
rs56707698	0.87[ASN][1000 genomes]
rs62150808	0.81[ASN][1000 genomes]
rs62150809	0.87[ASN][1000 genomes]
rs62150812	0.87[ASN][1000 genomes]
rs66566834	0.88[ASN][1000 genomes]
rs6729923	0.87[ASN][1000 genomes]
rs6730154	0.84[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs68003012	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72796683	0.87[ASN][1000 genomes]
rs72796684	0.87[ASN][1000 genomes]
rs741287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs994419	0.82[CEU][hapmap];0.84[CHB][hapmap];0.93[MEX][hapmap]

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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs759387	CCDC75	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40532000-40551800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:40538000-40552000	Weak transcription	Left Ventricle	heart
3	chr2:40542400-40549600	Enhancers	Fetal Heart	heart
4	chr2:40542400-40559800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:40542800-40556400	Weak transcription	Fetal Stomach	stomach
6	chr2:40543200-40549400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:40543400-40551600	Weak transcription	Fetal Kidney	kidney
9	chr2:40545000-40552000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:40545200-40549000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:40545200-40549000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:40545200-40559200	Weak transcription	HSMM	muscle
13	chr2:40545400-40548800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:40545400-40549000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:40545400-40549000	Weak transcription	NHDF-Ad	bronchial
16	chr2:40545400-40549400	Weak transcription	NHLF	lung
17	chr2:40545400-40553200	Weak transcription	Right Ventricle	heart
18	chr2:40545600-40556000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:40545800-40548800	Weak transcription	Osteobl	bone
20	chr2:40546600-40555600	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:40547200-40551400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:40547800-40549000	Enhancers	Fetal Lung	lung

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