Variant report

Variant	rs66596399
Chromosome Location	chr4:86741214-86741215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11942119	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12499386	0.92[ASN][1000 genomes]
rs12500124	0.92[ASN][1000 genomes]
rs12504839	0.93[ASN][1000 genomes]
rs12504871	0.93[ASN][1000 genomes]
rs12512001	0.93[ASN][1000 genomes]
rs17010960	0.92[ASN][1000 genomes]
rs17011016	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17011065	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17011069	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs345364	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs345365	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs345370	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4693742	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4693743	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4693744	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66681569	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67579023	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67631333	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67886916	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72658238	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv879518	chr4:86739805-86778943	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86728200-86747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:86729000-86744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:86729400-86747400	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:86729800-86743600	Weak transcription	HSMMtube	muscle
5	chr4:86729800-86744600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:86730200-86741400	Weak transcription	HSMM	muscle
7	chr4:86734600-86743000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:86734600-86743200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:86734600-86743400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:86734600-86743400	Weak transcription	Aorta	Aorta
11	chr4:86734600-86743400	Weak transcription	Osteobl	bone
12	chr4:86736200-86748600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:86737600-86744600	Weak transcription	K562	blood
14	chr4:86737600-86763200	Weak transcription	Primary B cells from cord blood	blood
15	chr4:86740000-86742600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:86740200-86742400	Weak transcription	NHDF-Ad	bronchial
17	chr4:86740200-86743200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:86740200-86744600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:86740200-86744600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:86740200-86744800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:86740200-86745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:86740200-86747000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:86740200-86747200	Weak transcription	Fetal Lung	lung
24	chr4:86740200-86748600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:86740200-86748800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:86740600-86741800	Strong transcription	HUVEC	blood vessel
27	chr4:86740800-86743800	Weak transcription	Fetal Brain Male	brain
28	chr4:86741000-86741600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
29	chr4:86741200-86741600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr4:86741200-86741600	ZNF genes & repeats	Fetal Kidney	kidney
31	chr4:86741200-86741600	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr4:86741200-86741800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:86741200-86741800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:86741200-86741800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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