Variant report

Variant	rs7795083
Chromosome Location	chr7:70738518-70738519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1017044	0.81[YRI][hapmap]
rs10244338	0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11764495	0.92[YRI][hapmap]
rs12666964	0.91[JPT][hapmap]
rs12669498	0.82[ASN][1000 genomes]
rs12673515	0.91[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap]
rs17593949	0.83[JPT][hapmap]
rs17594016	0.92[JPT][hapmap]
rs1882569	0.96[YRI][hapmap]
rs2867405	0.92[YRI][hapmap]
rs55654006	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62457810	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62457814	0.86[ASN][1000 genomes]
rs62457815	0.86[ASN][1000 genomes]
rs62457817	0.87[ASN][1000 genomes]
rs718982	0.81[ASN][1000 genomes]
rs7794178	0.90[CHB][hapmap];0.92[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1033155	chr7:70712368-70757929	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7795083	CLIP2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70732400-70745400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:70732400-70755400	Weak transcription	Right Atrium	heart
3	chr7:70733200-70747000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:70734200-70739200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:70734600-70740600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:70734800-70739000	Weak transcription	Left Ventricle	heart
7	chr7:70735000-70739000	Weak transcription	Right Ventricle	heart
8	chr7:70735000-70739200	Enhancers	Rectal Smooth Muscle	rectum
9	chr7:70735200-70747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:70735800-70742600	Weak transcription	Fetal Brain Male	brain
11	chr7:70736200-70739800	Enhancers	Colon Smooth Muscle	Colon
12	chr7:70736400-70747200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:70737600-70739000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:70737600-70739200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:70737600-70739400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:70737600-70739600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:70737600-70739600	Enhancers	HSMM	muscle
18	chr7:70737600-70739600	Enhancers	HSMMtube	muscle
19	chr7:70737800-70738800	Weak transcription	Ovary	ovary
20	chr7:70737800-70739200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:70737800-70739400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:70737800-70739400	Enhancers	Fetal Heart	heart
23	chr7:70738000-70739600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:70738000-70739800	Enhancers	Fetal Lung	lung
25	chr7:70738000-70743200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:70738200-70739800	Enhancers	NH-A	brain
27	chr7:70738200-70743400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:70738400-70738600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:70738400-70738800	Weak transcription	Fetal Stomach	stomach
30	chr7:70738400-70739000	Weak transcription	Fetal Kidney	kidney

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