Variant report

Variant	rs12512001
Chromosome Location	chr4:86732728-86732729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12499386	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12500124	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12504839	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504871	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010960	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17011016	0.83[ASN][1000 genomes]
rs4693742	0.83[ASN][1000 genomes]
rs66596399	0.93[ASN][1000 genomes]
rs67631333	0.93[ASN][1000 genomes]
rs67886916	0.83[ASN][1000 genomes]
rs72658238	0.93[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	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86718200-86733800	Weak transcription	Gastric	stomach
2	chr4:86727800-86735800	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:86728200-86747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:86729000-86734000	Weak transcription	Left Ventricle	heart
5	chr4:86729000-86735600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:86729000-86739400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:86729000-86744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:86729200-86733800	Weak transcription	NH-A	brain
9	chr4:86729200-86736200	Weak transcription	Fetal Stomach	stomach
10	chr4:86729400-86747400	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:86729800-86733600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:86729800-86733600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:86729800-86733800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:86729800-86734000	Weak transcription	Right Atrium	heart
15	chr4:86729800-86734800	Weak transcription	Fetal Kidney	kidney
16	chr4:86729800-86743600	Weak transcription	HSMMtube	muscle
17	chr4:86729800-86744600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:86730000-86733400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:86730000-86733800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:86730200-86733600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:86730200-86733600	Weak transcription	Osteobl	bone
22	chr4:86730200-86741400	Weak transcription	HSMM	muscle
23	chr4:86730400-86733600	Weak transcription	NHDF-Ad	bronchial
24	chr4:86731000-86733800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:86731000-86739600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:86731200-86734000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:86731800-86733600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:86732200-86737000	Weak transcription	Primary B cells from cord blood	blood
29	chr4:86732600-86734400	Genic enhancers	HUVEC	blood vessel

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