Variant report

Variant	rs12502161
Chromosome Location	chr4:18884307-18884308
allele	A/G
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:8)

rs_ID	r²[population]
rs13114853	0.81[AMR][1000 genomes]
rs1517994	0.81[AMR][1000 genomes]
rs16897755	0.81[AMR][1000 genomes]
rs207283	0.91[EUR][1000 genomes]
rs207284	0.91[EUR][1000 genomes]
rs4371612	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7659839	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7685736	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533087	chr4:18362040-19176896	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv532708	chr4:18596861-19176896	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv878723	chr4:18668957-19005988	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1000054	chr4:18839588-19271261	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv537051	chr4:18839588-19271261	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv428754	chr4:18871493-18907110	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1008625	chr4:18880048-19148705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18877400-18885600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:18882400-18884400	Enhancers	Colon Smooth Muscle	Colon
3	chr4:18882600-18884400	Enhancers	Fetal Stomach	stomach
4	chr4:18883000-18884400	Enhancers	Fetal Heart	heart
5	chr4:18883000-18884400	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:18883000-18884600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:18883200-18884600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:18883600-18884400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:18883800-18884400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:18883800-18884400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:18883800-18884400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:18883800-18884400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:18883800-18884400	Enhancers	Right Ventricle	heart
14	chr4:18883800-18884400	Enhancers	HMEC	breast
15	chr4:18883800-18884400	Enhancers	NHLF	lung
16	chr4:18883800-18884600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:18883800-18884600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:18883800-18884600	Enhancers	Fetal Lung	lung
19	chr4:18883800-18885200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:18884000-18884400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:18884000-18884400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:18884000-18884400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:18884000-18884400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:18884000-18884400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:18884000-18884400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:18884000-18884400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:18884000-18884400	Enhancers	Fetal Muscle Leg	muscle
28	chr4:18884000-18884400	Enhancers	Placenta	Placenta
29	chr4:18884000-18884400	Flanking Active TSS	NH-A	brain
30	chr4:18884000-18884400	Enhancers	NHEK	skin
31	chr4:18884200-18884400	Flanking Active TSS	HSMMtube	muscle
32	chr4:18884200-18886600	Weak transcription	Pancreas	Pancrea

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