Variant report

Variant	rs7995198
Chromosome Location	chr13:75989715-75989716
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	chr13:75988028..75990689-chr13:75994977..75997792,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12429477	0.86[ASN][1000 genomes]
rs4268647	0.82[ASN][1000 genomes]
rs7328246	0.85[ASN][1000 genomes]
rs7337411	0.86[ASN][1000 genomes]
rs7982953	0.86[ASN][1000 genomes]
rs9530438	0.81[EUR][1000 genomes]
rs9543924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565163	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573541	0.84[EUR][1000 genomes]
rs9600465	0.86[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7995198	TBC1D4	cis	cerebellum	SCAN
rs7995198	UCHL3	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75977400-75990600	Weak transcription	Brain Anterior Caudate	brain
2	chr13:75981000-75990600	Weak transcription	Fetal Muscle Leg	muscle
3	chr13:75981200-75990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:75984600-75990600	Weak transcription	Lung	lung
5	chr13:75984600-75990600	Weak transcription	Right Atrium	heart
6	chr13:75985200-75991800	Enhancers	HepG2	liver
7	chr13:75985600-75994400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:75986600-75990600	Weak transcription	Right Ventricle	heart
9	chr13:75986800-75989800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:75987000-75990600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr13:75987200-75989800	Weak transcription	Liver	Liver
12	chr13:75987200-75990600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:75987200-75990600	Weak transcription	Left Ventricle	heart
14	chr13:75987800-75994000	Enhancers	Fetal Heart	heart
15	chr13:75988000-75990800	Enhancers	Hela-S3	cervix
16	chr13:75988200-75990200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:75988200-75991200	Enhancers	Fetal Kidney	kidney
18	chr13:75988400-75990600	Weak transcription	Spleen	Spleen
19	chr13:75988400-75991400	Weak transcription	Placenta	Placenta
20	chr13:75988400-75997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr13:75988600-75989800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr13:75988600-75990600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:75988600-75990600	Weak transcription	Pancreas	Pancrea
24	chr13:75988600-75990800	Enhancers	NHDF-Ad	bronchial
25	chr13:75988600-75991400	Enhancers	HSMMtube	muscle
26	chr13:75988600-75991800	Enhancers	NHLF	lung
27	chr13:75988600-75992400	Enhancers	Osteobl	bone
28	chr13:75988600-75999800	Weak transcription	K562	blood
29	chr13:75988800-75990600	Enhancers	GM12878-XiMat	blood
30	chr13:75988800-75990800	Weak transcription	Gastric	stomach
31	chr13:75988800-75992200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr13:75989200-75994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:75989400-75989800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr13:75989400-75990600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:75989400-75990600	Weak transcription	Psoas Muscle	Psoas
36	chr13:75989400-75990600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr13:75989400-75991200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:75989400-75991400	Enhancers	Fetal Lung	lung
39	chr13:75989400-75991600	Enhancers	HSMM	muscle
40	chr13:75989400-75991800	Enhancers	A549	lung
41	chr13:75989400-75991800	Enhancers	NH-A	brain
42	chr13:75989400-75994400	Enhancers	Adipose Nuclei	Adipose
43	chr13:75989600-75990000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr13:75989600-75990400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:75989600-75990600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:75989600-75990600	Weak transcription	Ovary	ovary
47	chr13:75989600-75992000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:75989600-75993600	Enhancers	HMEC	breast

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