Variant report

Variant	rs174858
Chromosome Location	chr13:48992810-48992811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10076	1.00[CHD][hapmap]
rs17071695	1.00[CHD][hapmap]
rs17071937	1.00[CEU][hapmap]
rs198560	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs198566	0.93[AFR][1000 genomes]
rs198567	0.82[AFR][1000 genomes]
rs198572	0.82[AFR][1000 genomes]
rs198580	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs198582	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs198589	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs198613	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs198617	1.00[CHD][hapmap]
rs198618	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs198628	0.88[GIH][hapmap]
rs2156910	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2804082	1.00[TSI][hapmap]
rs2804085	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs2804087	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2804088	1.00[GIH][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2804089	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2854361	1.00[CHD][hapmap]
rs2854363	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2854364	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3020646	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs367438	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs411661	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs411862	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs4151420	1.00[CEU][hapmap]
rs4151421	1.00[CEU][hapmap]
rs4151424	1.00[CEU][hapmap]
rs4151426	1.00[CEU][hapmap]
rs4151440	1.00[CEU][hapmap]
rs4151463	1.00[CEU][hapmap]
rs4151469	1.00[CEU][hapmap]
rs4151475	1.00[CEU][hapmap]
rs4151480	1.00[CEU][hapmap]
rs4151498	1.00[CEU][hapmap]
rs4151505	1.00[CEU][hapmap]
rs4151529	1.00[CEU][hapmap]
rs4151536	1.00[CEU][hapmap]
rs4151567	1.00[CEU][hapmap]
rs4151590	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs4151610	1.00[CEU][hapmap]
rs428431	0.96[AFR][1000 genomes]
rs443211	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs449151	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs449268	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[EUR][1000 genomes]
rs4587857	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7326934	1.00[CEU][hapmap]
rs7332631	1.00[CHD][hapmap]
rs9316386	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs9316392	1.00[CHD][hapmap]
rs9316396	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs9331999	1.00[CEU][hapmap]
rs9332025	1.00[CHD][hapmap]
rs9332031	1.00[CEU][hapmap]
rs9332037	1.00[CEU][hapmap]
rs9332049	1.00[CEU][hapmap]
rs9332066	1.00[CHD][hapmap]
rs9332280	1.00[CEU][hapmap]
rs9332281	1.00[CHD][hapmap]
rs9332303	1.00[CEU][hapmap]
rs9591171	1.00[CHD][hapmap]
rs9595894	1.00[CHD][hapmap];1.00[GIH][hapmap]

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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48976000-49005800	Weak transcription	Hela-S3	cervix
2	chr13:48987200-48993200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:48987600-48993400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:48987600-48994800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:48987600-48995200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:48987600-49001800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr13:48987600-49005600	Weak transcription	Brain Hippocampus Middle	brain
8	chr13:48987600-49005800	Weak transcription	Aorta	Aorta
9	chr13:48987600-49005800	Weak transcription	HSMM	muscle
10	chr13:48987600-49010400	Weak transcription	Psoas Muscle	Psoas
11	chr13:48987800-48994000	Weak transcription	Osteobl	bone
12	chr13:48987800-49003000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr13:48987800-49005200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:48987800-49006000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:48987800-49006200	Weak transcription	A549	lung
16	chr13:48987800-49006400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:48988000-48995400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:48988000-49000200	Weak transcription	HUVEC	blood vessel
19	chr13:48988600-49003400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:48988800-49005600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr13:48989800-49003000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr13:48990200-49005200	Weak transcription	NHDF-Ad	bronchial
23	chr13:48990600-48998800	Weak transcription	Esophagus	oesophagus
24	chr13:48990600-49003000	Weak transcription	Adipose Nuclei	Adipose
25	chr13:48990800-48996400	Weak transcription	Gastric	stomach
26	chr13:48990800-49004600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr13:48990800-49011600	Weak transcription	Left Ventricle	heart
28	chr13:48990800-49030800	Weak transcription	Ovary	ovary
29	chr13:48991400-48998600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr13:48991400-49001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:48991400-49001000	Weak transcription	Lung	lung
32	chr13:48991400-49003400	Weak transcription	Right Ventricle	heart
33	chr13:48991400-49005800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr13:48991400-49006200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:48991400-49010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:48991400-49013200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr13:48991400-49018600	Weak transcription	Thymus	Thymus
38	chr13:48991400-49019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:48991400-49030600	Weak transcription	Spleen	Spleen
40	chr13:48991600-48993000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr13:48991600-49000800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr13:48991600-49005800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:48991600-49010800	Weak transcription	Fetal Stomach	stomach
44	chr13:48991800-48998000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:48991800-49000400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr13:48991800-49003000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:48991800-49005600	Weak transcription	Fetal Lung	lung
48	chr13:48991800-49010000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr13:48991800-49018800	Weak transcription	Fetal Thymus	thymus
50	chr13:48992000-48999800	Weak transcription	Dnd41	blood

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