Variant report

Variant	rs17081857
Chromosome Location	chr4:56043330-56043331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10012700	0.84[EUR][1000 genomes]
rs10014689	0.95[ASN][1000 genomes]
rs10016792	0.83[EUR][1000 genomes]
rs10017184	0.98[ASN][1000 genomes]
rs10019018	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030224	0.84[EUR][1000 genomes]
rs10213072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11133363	0.83[EUR][1000 genomes]
rs11133364	0.83[EUR][1000 genomes]
rs11133365	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723072	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12152606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12504287	0.84[EUR][1000 genomes]
rs12509589	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645088	0.83[EUR][1000 genomes]
rs12716020	0.83[EUR][1000 genomes]
rs12716021	0.83[EUR][1000 genomes]
rs13107781	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115127	0.88[EUR][1000 genomes]
rs13128075	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13139198	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13143119	0.88[EUR][1000 genomes]
rs13143543	0.88[EUR][1000 genomes]
rs13146373	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1380072	0.84[EUR][1000 genomes]
rs1380073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551636	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551637	0.84[EUR][1000 genomes]
rs1551638	0.84[EUR][1000 genomes]
rs17081850	0.84[EUR][1000 genomes]
rs17081852	0.84[EUR][1000 genomes]
rs17081854	0.84[EUR][1000 genomes]
rs1870381	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870382	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993584	0.88[EUR][1000 genomes]
rs1993585	0.88[EUR][1000 genomes]
rs1993586	0.88[EUR][1000 genomes]
rs2015048	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2085620	0.83[EUR][1000 genomes]
rs2085621	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125486	0.84[EUR][1000 genomes]
rs2125488	0.84[EUR][1000 genomes]
rs28702837	0.93[ASN][1000 genomes]
rs28841975	1.00[ASN][1000 genomes]
rs2899030	0.83[EUR][1000 genomes]
rs4241993	0.84[EUR][1000 genomes]
rs4277836	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4304028	0.83[EUR][1000 genomes]
rs4458511	0.84[EUR][1000 genomes]
rs4864960	0.83[EUR][1000 genomes]
rs4864961	0.84[EUR][1000 genomes]
rs4864963	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6554241	0.84[EUR][1000 genomes]
rs6554242	0.84[EUR][1000 genomes]
rs6810735	0.83[EUR][1000 genomes]
rs6812621	0.83[EUR][1000 genomes]
rs6852640	0.83[EUR][1000 genomes]
rs733378	0.84[EUR][1000 genomes]
rs7435539	0.82[EUR][1000 genomes]
rs7696873	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56036000-56050600	Weak transcription	Pancreas	Pancrea
2	chr4:56036200-56044400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:56036800-56044600	Weak transcription	Stomach Mucosa	stomach
4	chr4:56039400-56043800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:56039600-56043800	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:56041400-56044400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:56042000-56043800	Flanking Active TSS	HUVEC	blood vessel
8	chr4:56042200-56047400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:56042400-56044000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:56042400-56047200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:56042400-56047400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:56042400-56047400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:56042400-56047600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:56042400-56049800	Weak transcription	HSMM	muscle
15	chr4:56042600-56043800	Weak transcription	Right Atrium	heart
16	chr4:56042600-56046800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:56042600-56047200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:56042600-56047200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:56042600-56047200	Weak transcription	Osteobl	bone
20	chr4:56042600-56047400	Weak transcription	NHLF	lung
21	chr4:56042600-56050600	Weak transcription	Placenta	Placenta
22	chr4:56042800-56043800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:56042800-56043800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:56042800-56043800	Weak transcription	Left Ventricle	heart
25	chr4:56042800-56043800	Weak transcription	Spleen	Spleen
26	chr4:56042800-56044000	Weak transcription	HSMMtube	muscle
27	chr4:56042800-56044600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:56042800-56047000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:56042800-56047200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:56042800-56047200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:56042800-56050200	Weak transcription	Lung	lung
32	chr4:56042800-56050200	Weak transcription	Hela-S3	cervix
33	chr4:56043000-56043400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:56043000-56043800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:56043000-56043800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:56043000-56044000	Weak transcription	NHDF-Ad	bronchial
37	chr4:56043000-56045000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:56043000-56047000	Weak transcription	NH-A	brain
39	chr4:56043000-56047200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr4:56043000-56047200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:56043000-56047600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:56043200-56043800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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