Variant report

Variant	rs4697171
Chromosome Location	chr4:20595536-20595537
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10516358	0.85[EUR][1000 genomes]
rs11944759	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647264	0.85[EUR][1000 genomes]
rs1463463	0.85[EUR][1000 genomes]
rs16869776	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870260	0.85[EUR][1000 genomes]
rs2290749	0.85[EUR][1000 genomes]
rs3886678	0.85[EUR][1000 genomes]
rs4466041	0.85[EUR][1000 genomes]
rs6813991	0.85[EUR][1000 genomes]
rs7654670	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7683294	0.96[ASN][1000 genomes]
rs7683520	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692811	0.85[EUR][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	nsv829875	chr4:20502895-20680956	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
2	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
3	chr4:20555600-20599200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:20567000-20604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:20567200-20605200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:20567200-20617000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:20577400-20597200	Weak transcription	Fetal Stomach	stomach
8	chr4:20578000-20617400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:20578200-20616800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:20578400-20610000	Weak transcription	Fetal Brain Male	brain
11	chr4:20579400-20605600	Weak transcription	Adipose Nuclei	Adipose
12	chr4:20584200-20600200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:20589200-20610600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:20589200-20620800	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:20590000-20620400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:20590800-20618400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:20591400-20617000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:20591600-20605200	Weak transcription	NHEK	skin
19	chr4:20592000-20596600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:20592400-20596200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:20593000-20619000	Weak transcription	Placenta	Placenta
22	chr4:20594400-20619000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:20594600-20595600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:20594600-20597400	Weak transcription	Fetal Kidney	kidney
25	chr4:20594600-20597800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:20594600-20599000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:20594600-20600000	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:20594600-20601600	Strong transcription	Fetal Lung	lung
29	chr4:20594600-20602600	Weak transcription	Fetal Intestine Large	intestine
30	chr4:20594600-20605200	Weak transcription	NHLF	lung
31	chr4:20594800-20596400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:20594800-20597200	Weak transcription	Osteobl	bone
33	chr4:20594800-20599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:20594800-20603800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:20594800-20620600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:20595000-20605400	Strong transcription	NHDF-Ad	bronchial
37	chr4:20595400-20596000	Weak transcription	Placenta Amnion	Placenta Amnion

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