Variant report

Variant	rs198626
Chromosome Location	chr13:48990391-48990392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs171989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs174854	0.87[AFR][1000 genomes]
rs185587	0.95[AMR][1000 genomes]
rs198559	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198560	0.86[EUR][1000 genomes]
rs198565	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs198566	0.84[EUR][1000 genomes]
rs198567	0.84[EUR][1000 genomes]
rs198572	0.84[EUR][1000 genomes]
rs198573	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs198583	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs198587	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs198600	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198601	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198613	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198616	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198617	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198618	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198628	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198632	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198636	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2245534	0.85[AMR][1000 genomes]
rs2515668	0.85[AMR][1000 genomes]
rs2804082	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2804084	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2804085	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2804086	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2804087	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2804088	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2804089	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2804091	0.85[AMR][1000 genomes]
rs2804092	0.85[AMR][1000 genomes]
rs2854352	0.85[AMR][1000 genomes]
rs2854356	0.85[AMR][1000 genomes]
rs2854363	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2854364	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2854365	0.85[AMR][1000 genomes]
rs2984828	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3020646	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs411661	0.82[AMR][1000 genomes]
rs411862	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs416156	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs428431	0.84[EUR][1000 genomes]
rs4587857	0.82[AMR][1000 genomes]
rs4625624	0.81[AMR][1000 genomes]
rs547747	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7990103	0.84[EUR][1000 genomes]
rs9332066	0.91[AFR][1000 genomes]
rs9562817	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9591163	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9595894	0.84[EUR][1000 genomes]
rs9595909	0.84[EUR][1000 genomes]
rs9595910	0.84[EUR][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	nsv1053432	chr13:48971510-48992810	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48976000-49005800	Weak transcription	Hela-S3	cervix
2	chr13:48978800-48990400	Weak transcription	Spleen	Spleen
3	chr13:48986600-48990400	Weak transcription	Brain Germinal Matrix	brain
4	chr13:48986600-48990400	Weak transcription	Gastric	stomach
5	chr13:48986600-48990400	Weak transcription	Pancreas	Pancrea
6	chr13:48987000-48990400	Weak transcription	Fetal Brain Female	brain
7	chr13:48987000-48992800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr13:48987200-48990400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:48987200-48993200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:48987400-48990400	Weak transcription	Left Ventricle	heart
11	chr13:48987400-48990600	Weak transcription	Right Ventricle	heart
12	chr13:48987400-48991200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:48987400-48991200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:48987600-48990400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:48987600-48990400	Weak transcription	Liver	Liver
16	chr13:48987600-48990400	Weak transcription	Ovary	ovary
17	chr13:48987600-48990600	Weak transcription	NHLF	lung
18	chr13:48987600-48991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr13:48987600-48991200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr13:48987600-48991200	Weak transcription	HSMMtube	muscle
21	chr13:48987600-48991400	Weak transcription	Fetal Muscle Leg	muscle
22	chr13:48987600-48992800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:48987600-48993400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr13:48987600-48994800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:48987600-48995200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr13:48987600-49001800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr13:48987600-49005600	Weak transcription	Brain Hippocampus Middle	brain
28	chr13:48987600-49005800	Weak transcription	Aorta	Aorta
29	chr13:48987600-49005800	Weak transcription	HSMM	muscle
30	chr13:48987600-49010400	Weak transcription	Psoas Muscle	Psoas
31	chr13:48987800-48990400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:48987800-48991000	Weak transcription	Primary T cells from cord blood	blood
33	chr13:48987800-48991800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:48987800-48992200	Weak transcription	HMEC	breast
35	chr13:48987800-48992800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr13:48987800-48994000	Weak transcription	Osteobl	bone
37	chr13:48987800-49003000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr13:48987800-49005200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:48987800-49006000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:48987800-49006200	Weak transcription	A549	lung
41	chr13:48987800-49006400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr13:48988000-48990400	Weak transcription	Fetal Lung	lung
43	chr13:48988000-48995400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:48988000-49000200	Weak transcription	HUVEC	blood vessel
45	chr13:48988400-48990400	Weak transcription	Adipose Nuclei	Adipose
46	chr13:48988600-49003400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr13:48988800-49005600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr13:48989400-48991600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
49	chr13:48989600-48991800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr13:48989600-48992000	ZNF genes & repeats	Dnd41	blood

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