Variant report

Variant	rs6712702
Chromosome Location	chr2:40645105-40645106
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10205556	0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[ASN][1000 genomes]
rs11901878	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12052649	0.84[CHB][hapmap]
rs12052650	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs12052800	0.89[JPT][hapmap]
rs12105764	0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[ASN][1000 genomes]
rs12988659	0.84[CHB][hapmap]
rs13017237	0.89[JPT][hapmap]
rs13414307	0.89[CHD][hapmap]
rs13418726	0.84[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs17025965	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2888677	0.89[CHB][hapmap];0.83[MEX][hapmap]
rs2888678	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[AMR][1000 genomes]
rs35707998	0.84[ASN][1000 genomes]
rs4366950	0.92[CEU][hapmap];0.89[CHB][hapmap];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4629203	0.80[JPT][hapmap]
rs4952621	0.84[CHB][hapmap]
rs6737011	0.84[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs7579930	0.84[CHB][hapmap]
rs7598773	0.92[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs9789737	0.89[JPT][hapmap]
rs9789739	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1007027	chr2:40627475-40649916	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6712702	CCDC75	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40623600-40655000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40634800-40645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:40635800-40652600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:40636000-40645600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:40636200-40646000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:40637000-40645600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:40637200-40645600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:40637200-40646000	Weak transcription	Right Ventricle	heart
9	chr2:40637200-40649000	Weak transcription	Dnd41	blood
10	chr2:40640000-40645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:40640000-40645800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:40640000-40646600	Weak transcription	Osteobl	bone
13	chr2:40640000-40647600	Weak transcription	NHLF	lung
14	chr2:40641200-40647600	Weak transcription	Fetal Kidney	kidney
15	chr2:40642800-40654600	Weak transcription	HSMM	muscle
16	chr2:40643200-40646000	Weak transcription	Fetal Brain Male	brain
17	chr2:40644200-40645600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:40644200-40656000	Weak transcription	HMEC	breast
19	chr2:40644200-40656400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:40644200-40658600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:40644600-40645600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:40644800-40645400	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:40644800-40646400	Genic enhancers	Fetal Heart	heart
24	chr2:40645000-40645400	Weak transcription	Left Ventricle	heart
25	chr2:40645000-40645400	Weak transcription	Right Atrium	heart
26	chr2:40645000-40649600	Enhancers	Fetal Stomach	stomach

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