Variant report

Variant	rs4587857
Chromosome Location	chr13:48990742-48990743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs171989	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs171991	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs174858	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs198559	0.84[EUR][1000 genomes]
rs198560	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs198565	0.84[EUR][1000 genomes]
rs198566	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198567	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198572	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198573	0.84[EUR][1000 genomes]
rs198580	0.92[AFR][1000 genomes]
rs198583	0.84[EUR][1000 genomes]
rs198587	0.84[EUR][1000 genomes]
rs198589	0.90[AFR][1000 genomes]
rs198600	0.84[EUR][1000 genomes]
rs198601	0.84[EUR][1000 genomes]
rs198613	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs198616	0.84[EUR][1000 genomes]
rs198617	0.84[EUR][1000 genomes]
rs198618	0.84[EUR][1000 genomes]
rs198626	0.82[AMR][1000 genomes]
rs198628	0.84[EUR][1000 genomes]
rs198632	0.84[EUR][1000 genomes]
rs198636	0.84[EUR][1000 genomes]
rs2804082	0.84[EUR][1000 genomes]
rs2804084	0.84[EUR][1000 genomes]
rs2804085	0.84[EUR][1000 genomes]
rs2804086	0.84[EUR][1000 genomes]
rs2804087	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2804088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2804089	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2854363	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2854364	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2984828	0.84[EUR][1000 genomes]
rs3020646	0.84[EUR][1000 genomes]
rs411661	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs411862	0.84[EUR][1000 genomes]
rs416156	0.84[EUR][1000 genomes]
rs428431	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs443211	0.93[AFR][1000 genomes]
rs449151	0.88[AFR][1000 genomes]
rs547747	0.84[EUR][1000 genomes]
rs7990103	0.84[EUR][1000 genomes]
rs9562817	0.84[EUR][1000 genomes]
rs9591163	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:84 , 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	chr13:48987400-48991200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:48987400-48991200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:48987600-48991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr13:48987600-48991200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr13:48987600-48991200	Weak transcription	HSMMtube	muscle
9	chr13:48987600-48991400	Weak transcription	Fetal Muscle Leg	muscle
10	chr13:48987600-48992800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:48987600-48993400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr13:48987600-48994800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:48987600-48995200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr13:48987600-49001800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr13:48987600-49005600	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:48987600-49005800	Weak transcription	Aorta	Aorta
17	chr13:48987600-49005800	Weak transcription	HSMM	muscle
18	chr13:48987600-49010400	Weak transcription	Psoas Muscle	Psoas
19	chr13:48987800-48991000	Weak transcription	Primary T cells from cord blood	blood
20	chr13:48987800-48991800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr13:48987800-48992200	Weak transcription	HMEC	breast
22	chr13:48987800-48992800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:48987800-48994000	Weak transcription	Osteobl	bone
24	chr13:48987800-49003000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr13:48987800-49005200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:48987800-49006000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:48987800-49006200	Weak transcription	A549	lung
28	chr13:48987800-49006400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr13:48988000-48995400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:48988000-49000200	Weak transcription	HUVEC	blood vessel
31	chr13:48988600-49003400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:48988800-49005600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr13:48989400-48991600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
34	chr13:48989600-48991800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr13:48989600-48992000	ZNF genes & repeats	Dnd41	blood
36	chr13:48989800-48990800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr13:48989800-48991400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:48989800-48991400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:48989800-48991800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr13:48989800-48992600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:48989800-48992800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:48989800-49003000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr13:48990000-48991600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr13:48990000-48992400	Weak transcription	HepG2	liver
45	chr13:48990200-48991000	Strong transcription	Thymus	Thymus
46	chr13:48990200-48991200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:48990200-48991200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:48990200-48991200	ZNF genes & repeats	GM12878-XiMat	blood
49	chr13:48990200-48991400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr13:48990200-48991400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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