Variant report

Variant	rs7990050
Chromosome Location	chr13:75989390-75989391
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	chr13:75988028..75990689-chr13:75994977..75997792,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1028793	1.00[ASN][1000 genomes]
rs10507830	1.00[JPT][hapmap]
rs1105687	1.00[ASN][1000 genomes]
rs1408928	1.00[ASN][1000 genomes]
rs17064386	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17064454	1.00[JPT][hapmap]
rs2025620	0.82[ASN][1000 genomes]
rs2031505	1.00[JPT][hapmap]
rs2031506	1.00[JPT][hapmap]
rs4280128	1.00[ASN][1000 genomes]
rs4340196	1.00[JPT][hapmap]
rs4530013	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883997	0.82[ASN][1000 genomes]
rs4885295	1.00[JPT][hapmap]
rs5021641	0.82[CHB][hapmap]
rs7321494	1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7992747	0.82[CHB][hapmap]
rs7998651	0.82[CHB][hapmap]
rs9318344	1.00[ASN][1000 genomes]
rs9530433	0.94[ASN][1000 genomes]
rs9530434	1.00[ASN][1000 genomes]
rs9573531	0.82[CHB][hapmap]
rs9573539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75977400-75990600	Weak transcription	Brain Anterior Caudate	brain
2	chr13:75979800-75989400	Weak transcription	HSMM	muscle
3	chr13:75981000-75990600	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:75981200-75990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:75984600-75990600	Weak transcription	Lung	lung
6	chr13:75984600-75990600	Weak transcription	Right Atrium	heart
7	chr13:75985200-75991800	Enhancers	HepG2	liver
8	chr13:75985600-75994400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr13:75986600-75989400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:75986600-75990600	Weak transcription	Right Ventricle	heart
11	chr13:75986800-75989800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr13:75987000-75990600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr13:75987200-75989400	Weak transcription	Adipose Nuclei	Adipose
14	chr13:75987200-75989600	Weak transcription	HMEC	breast
15	chr13:75987200-75989800	Weak transcription	Liver	Liver
16	chr13:75987200-75990600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:75987200-75990600	Weak transcription	Left Ventricle	heart
18	chr13:75987800-75994000	Enhancers	Fetal Heart	heart
19	chr13:75988000-75990800	Enhancers	Hela-S3	cervix
20	chr13:75988200-75990200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:75988200-75991200	Enhancers	Fetal Kidney	kidney
22	chr13:75988400-75989400	Enhancers	Psoas Muscle	Psoas
23	chr13:75988400-75989600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:75988400-75990600	Weak transcription	Spleen	Spleen
25	chr13:75988400-75991400	Weak transcription	Placenta	Placenta
26	chr13:75988400-75997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr13:75988600-75989400	Weak transcription	Fetal Lung	lung
28	chr13:75988600-75989400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr13:75988600-75989600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr13:75988600-75989800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr13:75988600-75990600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:75988600-75990600	Weak transcription	Pancreas	Pancrea
33	chr13:75988600-75990800	Enhancers	NHDF-Ad	bronchial
34	chr13:75988600-75991400	Enhancers	HSMMtube	muscle
35	chr13:75988600-75991800	Enhancers	NHLF	lung
36	chr13:75988600-75992400	Enhancers	Osteobl	bone
37	chr13:75988600-75999800	Weak transcription	K562	blood
38	chr13:75988800-75989400	Weak transcription	A549	lung
39	chr13:75988800-75990600	Enhancers	GM12878-XiMat	blood
40	chr13:75988800-75990800	Weak transcription	Gastric	stomach
41	chr13:75988800-75992200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr13:75989000-75989400	Weak transcription	Ovary	ovary
43	chr13:75989200-75994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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