Variant report

Variant	rs60336604
Chromosome Location	chr13:98048461-98048462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:98047283..98049852-chr13:98064242..98066608,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12100131	1.00[AMR][1000 genomes]
rs12100173	1.00[AMR][1000 genomes]
rs12100326	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329004	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13329005	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41315034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56209531	1.00[AMR][1000 genomes]
rs56774219	1.00[AMR][1000 genomes]
rs57105558	1.00[AMR][1000 genomes]
rs57256896	1.00[AMR][1000 genomes]
rs57871459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58549508	1.00[AMR][1000 genomes]
rs59293967	1.00[AMR][1000 genomes]
rs59907655	1.00[AMR][1000 genomes]
rs60087275	1.00[AMR][1000 genomes]
rs60474634	1.00[AMR][1000 genomes]
rs60616579	1.00[AMR][1000 genomes]
rs61473452	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6491351	1.00[AMR][1000 genomes]
rs74105473	1.00[AMR][1000 genomes]
rs9943962	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1038798	chr13:98008467-98068130	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97995400-98050200	Weak transcription	Small Intestine	intestine
2	chr13:98028000-98056400	Weak transcription	Psoas Muscle	Psoas
3	chr13:98038600-98049400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr13:98039600-98054400	Weak transcription	Primary T cells from cord blood	blood
5	chr13:98040000-98049800	Weak transcription	Lung	lung
6	chr13:98040200-98049000	Weak transcription	Brain Angular Gyrus	brain
7	chr13:98040200-98049400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr13:98041400-98049000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr13:98041400-98049200	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:98041400-98050200	Weak transcription	Fetal Stomach	stomach
11	chr13:98041800-98050800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:98042000-98049000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:98042000-98052800	Weak transcription	Fetal Muscle Leg	muscle
14	chr13:98044000-98048800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:98044200-98048600	Weak transcription	Stomach Mucosa	stomach
16	chr13:98044600-98049000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:98044600-98049000	Weak transcription	Brain Substantia Nigra	brain
18	chr13:98044600-98049400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr13:98044600-98059400	Weak transcription	Left Ventricle	heart
20	chr13:98045400-98059400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:98045600-98049200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:98046400-98048600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr13:98046600-98048800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr13:98046600-98049400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:98047000-98048600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:98047000-98048600	Weak transcription	Liver	Liver
27	chr13:98047000-98049000	Weak transcription	Fetal Lung	lung
28	chr13:98047200-98048600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:98047200-98048800	Weak transcription	Fetal Intestine Large	intestine
30	chr13:98047200-98049200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:98047600-98048600	Enhancers	HMEC	breast
32	chr13:98048200-98050200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr13:98048400-98049200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:98048400-98052200	Weak transcription	NHLF	lung

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