Variant report

Variant	rs2134059
Chromosome Location	chr7:121745293-121745294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121728698..121731456-chr7:121744807..121746663,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10233433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1206366	0.96[ASN][1000 genomes]
rs1918031	0.83[GIH][hapmap]
rs2268076	0.81[GIH][hapmap]
rs2270884	0.81[GIH][hapmap]
rs4140745	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944507	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954861	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968699	0.81[GIH][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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2134059	CADPS2	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:121703400-121755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:121715400-121752000	Weak transcription	NH-A	brain
4	chr7:121716000-121772000	Weak transcription	Osteobl	bone
5	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:121716200-121758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:121718000-121746800	Weak transcription	Brain Anterior Caudate	brain
8	chr7:121718000-121754200	Weak transcription	Placenta	Placenta
9	chr7:121718000-121754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:121718000-121754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:121718000-121756200	Weak transcription	Pancreas	Pancrea
12	chr7:121718200-121755000	Weak transcription	NHDF-Ad	bronchial
13	chr7:121719200-121751800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:121719400-121747400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:121719800-121747200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:121722000-121755000	Weak transcription	HUVEC	blood vessel
17	chr7:121725800-121758400	Weak transcription	HSMMtube	muscle
18	chr7:121726000-121774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:121726000-121776000	Weak transcription	Fetal Stomach	stomach
20	chr7:121730400-121749400	Weak transcription	Fetal Kidney	kidney
21	chr7:121730400-121754600	Weak transcription	Aorta	Aorta
22	chr7:121731800-121753600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:121731800-121770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:121732000-121773600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr7:121734000-121749400	Weak transcription	NHEK	skin
26	chr7:121739800-121760400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:121742200-121747200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:121742200-121749800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:121742200-121753400	Weak transcription	HSMM	muscle
30	chr7:121742600-121745800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr7:121742600-121747000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:121742600-121747200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:121742600-121747400	Weak transcription	Left Ventricle	heart
34	chr7:121742600-121754200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:121742600-121756200	Weak transcription	Right Ventricle	heart
36	chr7:121743000-121748000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:121743000-121748600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:121743000-121770200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:121743200-121745400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr7:121743600-121745600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:121743600-121746400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:121743600-121747200	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:121743600-121747400	Weak transcription	Brain Substantia Nigra	brain
44	chr7:121743600-121749800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:121743800-121749200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:121743800-121776200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:121744000-121747400	Weak transcription	Fetal Brain Male	brain
48	chr7:121744400-121749400	Weak transcription	Fetal Heart	heart
49	chr7:121744600-121745600	Strong transcription	Fetal Lung	lung
50	chr7:121744600-121753200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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