Variant report

Variant	rs618930
Chromosome Location	chr13:76384660-76384661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1323562	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2274062	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4885349	0.83[CEU][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7321748	0.81[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7326714	0.81[ASN][1000 genomes]
rs7329627	0.80[EUR][1000 genomes]
rs7986288	0.87[CEU][hapmap]
rs7996791	0.90[CEU][hapmap];0.85[CHB][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9530472	0.87[CEU][hapmap];0.80[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9530473	0.91[CEU][hapmap];0.85[CHB][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9530474	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9544043	0.81[ASN][1000 genomes]
rs9544057	0.87[CEU][hapmap]
rs9573658	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9600563	0.80[CHB][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	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs618930	C13orf45	cis	Nerve Tibial	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr13:76364600-76385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:76367000-76387000	Weak transcription	Ovary	ovary
4	chr13:76370400-76415600	Weak transcription	Primary B cells from cord blood	blood
5	chr13:76373000-76414600	Weak transcription	HMEC	breast
6	chr13:76373200-76385800	Strong transcription	Hela-S3	cervix
7	chr13:76373400-76387200	Weak transcription	Psoas Muscle	Psoas
8	chr13:76376800-76415400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr13:76377400-76386800	Weak transcription	Stomach Mucosa	stomach
10	chr13:76377400-76395000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:76377600-76387000	Weak transcription	Brain Germinal Matrix	brain
12	chr13:76377600-76387200	Weak transcription	Spleen	Spleen
13	chr13:76377600-76395200	Weak transcription	GM12878-XiMat	blood
14	chr13:76377600-76398600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr13:76377600-76415800	Weak transcription	Dnd41	blood
16	chr13:76377600-76416200	Weak transcription	A549	lung
17	chr13:76378200-76397800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr13:76378200-76415800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:76378400-76392200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr13:76378400-76415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr13:76378800-76387000	Strong transcription	HSMM	muscle
22	chr13:76378800-76393200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr13:76379200-76394800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:76379400-76384800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr13:76380400-76385000	Strong transcription	HSMMtube	muscle
26	chr13:76380400-76387200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:76380600-76387000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr13:76380600-76387200	Weak transcription	Pancreas	Pancrea
29	chr13:76380600-76387400	Weak transcription	Gastric	stomach
30	chr13:76380600-76388600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:76380600-76395200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr13:76380600-76397800	Weak transcription	Colonic Mucosa	Colon
33	chr13:76380600-76397800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr13:76380600-76398000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr13:76380600-76400400	Weak transcription	Esophagus	oesophagus
36	chr13:76380600-76405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:76380800-76386600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr13:76380800-76391200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:76380800-76392800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr13:76380800-76397800	Weak transcription	Brain Anterior Caudate	brain
41	chr13:76381000-76386200	Weak transcription	Aorta	Aorta
42	chr13:76381000-76386200	Weak transcription	Placenta	Placenta
43	chr13:76381000-76392400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr13:76382400-76384800	Weak transcription	Primary T cells from cord blood	blood
45	chr13:76382400-76386800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr13:76382400-76387200	Weak transcription	Lung	lung
47	chr13:76382400-76387600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr13:76382400-76388400	Weak transcription	Fetal Muscle Leg	muscle
49	chr13:76382400-76391000	Weak transcription	Liver	Liver
50	chr13:76382400-76392400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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