Variant report

Variant	rs9998523
Chromosome Location	chr4:86671305-86671306
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1014642	0.90[ASN][1000 genomes]
rs12505724	0.93[ASN][1000 genomes]
rs12506038	0.88[ASN][1000 genomes]
rs12507198	0.99[ASN][1000 genomes]
rs12507272	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12509904	0.83[ASN][1000 genomes]
rs12510148	0.93[ASN][1000 genomes]
rs12510813	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13102863	0.86[ASN][1000 genomes]
rs13106553	0.98[ASN][1000 genomes]
rs13108523	0.90[ASN][1000 genomes]
rs13110485	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110928	0.90[ASN][1000 genomes]
rs13121597	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127367	0.90[ASN][1000 genomes]
rs13135703	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136153	0.93[ASN][1000 genomes]
rs13137575	0.94[ASN][1000 genomes]
rs13139248	0.94[ASN][1000 genomes]
rs2004613	0.96[ASN][1000 genomes]
rs34056429	0.88[ASN][1000 genomes]
rs34322771	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34820504	0.92[ASN][1000 genomes]
rs35341700	0.93[ASN][1000 genomes]
rs35472747	0.93[ASN][1000 genomes]
rs35577842	0.91[ASN][1000 genomes]
rs3889735	0.96[ASN][1000 genomes]
rs4693734	0.94[ASN][1000 genomes]
rs4693735	0.99[ASN][1000 genomes]
rs58146546	0.92[ASN][1000 genomes]
rs6813860	0.93[ASN][1000 genomes]
rs71599423	0.88[ASN][1000 genomes]
rs7676486	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	esv2763373	chr4:86655128-86673695	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv526211	chr4:86666893-86677107	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86659800-86671600	Enhancers	Primary B cells from peripheral blood	blood
2	chr4:86663400-86673200	Weak transcription	Left Ventricle	heart
3	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:86664000-86675600	Weak transcription	Brain Anterior Caudate	brain
5	chr4:86664400-86673000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:86665000-86672800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:86665000-86674600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:86665600-86675600	Weak transcription	Adipose Nuclei	Adipose
9	chr4:86665800-86673200	Weak transcription	Right Ventricle	heart
10	chr4:86666000-86682400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:86667600-86678000	Weak transcription	Stomach Mucosa	stomach
12	chr4:86667800-86676400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr4:86667800-86676400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:86668000-86677800	Weak transcription	Right Atrium	heart
15	chr4:86669000-86675000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:86669200-86671400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:86669200-86671600	Enhancers	Fetal Muscle Leg	muscle
18	chr4:86670200-86671600	Enhancers	GM12878-XiMat	blood
19	chr4:86670400-86671600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:86670400-86672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:86670400-86673000	Weak transcription	NHDF-Ad	bronchial
22	chr4:86670400-86673400	Weak transcription	Fetal Heart	heart
23	chr4:86670400-86683600	Weak transcription	HSMMtube	muscle
24	chr4:86670600-86672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:86670600-86675800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:86670600-86680400	Weak transcription	HUVEC	blood vessel
27	chr4:86670800-86671800	Weak transcription	Primary B cells from cord blood	blood
28	chr4:86671200-86671400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:86671200-86672600	Weak transcription	HSMM	muscle

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