Variant report

Variant	rs198624
Chromosome Location	chr13:48994005-48994006
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48992995..48995135-chr13:48999356..49001211,2	K562	blood:

Variant related genes	Relation type
ENSG00000139679	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12584784	0.87[ASN][1000 genomes]
rs171988	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs171990	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs174857	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs198564	0.98[AFR][1000 genomes]
rs198568	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs198571	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs198574	0.89[AFR][1000 genomes]
rs198575	0.93[AFR][1000 genomes]
rs198576	0.93[AFR][1000 genomes]
rs198577	0.93[AFR][1000 genomes]
rs198606	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs198608	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs198609	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs198610	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs198622	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs198623	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs198627	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs198629	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs198630	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs198631	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2070752	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2515669	0.81[AFR][1000 genomes]
rs2804094	0.81[AFR][1000 genomes]
rs2804095	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2854342	0.84[AFR][1000 genomes]
rs2854348	0.84[AFR][1000 genomes]
rs2854353	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2854357	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2854362	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3092888	0.81[ASN][1000 genomes]
rs398158	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs403390	0.98[AFR][1000 genomes]
rs406098	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs425834	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs427686	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58001261	0.83[ASN][1000 genomes]
rs58933677	0.83[ASN][1000 genomes]
rs7333985	0.81[ASN][1000 genomes]
rs74075993	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043486	chr13:48971510-48996995	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48976000-49005800	Weak transcription	Hela-S3	cervix
2	chr13:48987600-48994800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr13:48987600-48995200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr13:48987600-49001800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:48987600-49005600	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:48987600-49005800	Weak transcription	Aorta	Aorta
7	chr13:48987600-49005800	Weak transcription	HSMM	muscle
8	chr13:48987600-49010400	Weak transcription	Psoas Muscle	Psoas
9	chr13:48987800-49003000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr13:48987800-49005200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:48987800-49006000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:48987800-49006200	Weak transcription	A549	lung
13	chr13:48987800-49006400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:48988000-48995400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:48988000-49000200	Weak transcription	HUVEC	blood vessel
16	chr13:48988600-49003400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:48988800-49005600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr13:48989800-49003000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:48990200-49005200	Weak transcription	NHDF-Ad	bronchial
20	chr13:48990600-48998800	Weak transcription	Esophagus	oesophagus
21	chr13:48990600-49003000	Weak transcription	Adipose Nuclei	Adipose
22	chr13:48990800-48996400	Weak transcription	Gastric	stomach
23	chr13:48990800-49004600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:48990800-49011600	Weak transcription	Left Ventricle	heart
25	chr13:48990800-49030800	Weak transcription	Ovary	ovary
26	chr13:48991400-48998600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr13:48991400-49001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:48991400-49001000	Weak transcription	Lung	lung
29	chr13:48991400-49003400	Weak transcription	Right Ventricle	heart
30	chr13:48991400-49005800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr13:48991400-49006200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:48991400-49010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:48991400-49013200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr13:48991400-49018600	Weak transcription	Thymus	Thymus
35	chr13:48991400-49019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:48991400-49030600	Weak transcription	Spleen	Spleen
37	chr13:48991600-49000800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr13:48991600-49005800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:48991600-49010800	Weak transcription	Fetal Stomach	stomach
40	chr13:48991800-48998000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:48991800-49000400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr13:48991800-49003000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:48991800-49005600	Weak transcription	Fetal Lung	lung
44	chr13:48991800-49010000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr13:48991800-49018800	Weak transcription	Fetal Thymus	thymus
46	chr13:48992000-48999800	Weak transcription	Dnd41	blood
47	chr13:48992000-49005200	Weak transcription	Primary T cells from cord blood	blood
48	chr13:48992000-49005800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:48992200-48994400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:48992200-49001000	Weak transcription	Muscle Satellite Cultured Cells	--

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