Variant report

Variant	rs171991
Chromosome Location	chr13:48992114-48992115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs198560	0.84[AMR][1000 genomes]
rs198567	0.88[AFR][1000 genomes]
rs198572	0.88[AFR][1000 genomes]
rs198613	0.88[AMR][1000 genomes]
rs2804087	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2804088	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2804089	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2854363	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2854364	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs411661	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs428431	0.80[AFR][1000 genomes]
rs4587857	0.83[AFR][1000 genomes];0.88[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	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48976000-49005800	Weak transcription	Hela-S3	cervix
2	chr13:48987000-48992800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:48987200-48993200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:48987600-48992800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr13:48987600-48993400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:48987600-48994800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr13:48987600-48995200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr13:48987600-49001800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr13:48987600-49005600	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:48987600-49005800	Weak transcription	Aorta	Aorta
11	chr13:48987600-49005800	Weak transcription	HSMM	muscle
12	chr13:48987600-49010400	Weak transcription	Psoas Muscle	Psoas
13	chr13:48987800-48992200	Weak transcription	HMEC	breast
14	chr13:48987800-48992800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr13:48987800-48994000	Weak transcription	Osteobl	bone
16	chr13:48987800-49003000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:48987800-49005200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:48987800-49006000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:48987800-49006200	Weak transcription	A549	lung
20	chr13:48987800-49006400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:48988000-48995400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:48988000-49000200	Weak transcription	HUVEC	blood vessel
23	chr13:48988600-49003400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:48988800-49005600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr13:48989800-48992600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:48989800-48992800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr13:48989800-49003000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr13:48990000-48992400	Weak transcription	HepG2	liver
29	chr13:48990200-48992200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:48990200-49005200	Weak transcription	NHDF-Ad	bronchial
31	chr13:48990600-48998800	Weak transcription	Esophagus	oesophagus
32	chr13:48990600-49003000	Weak transcription	Adipose Nuclei	Adipose
33	chr13:48990800-48996400	Weak transcription	Gastric	stomach
34	chr13:48990800-49004600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr13:48990800-49011600	Weak transcription	Left Ventricle	heart
36	chr13:48990800-49030800	Weak transcription	Ovary	ovary
37	chr13:48991200-48992600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr13:48991400-48992200	Weak transcription	Brain Germinal Matrix	brain
39	chr13:48991400-48998600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr13:48991400-49001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:48991400-49001000	Weak transcription	Lung	lung
42	chr13:48991400-49003400	Weak transcription	Right Ventricle	heart
43	chr13:48991400-49005800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr13:48991400-49006200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:48991400-49010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:48991400-49013200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr13:48991400-49018600	Weak transcription	Thymus	Thymus
48	chr13:48991400-49019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:48991400-49030600	Weak transcription	Spleen	Spleen
50	chr13:48991600-48993000	Weak transcription	Fetal Muscle Trunk	muscle

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