Variant report

Variant	rs12507321
Chromosome Location	chr4:58021699-58021700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs67241701	0.80[ASN][1000 genomes]
rs73818641	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1010053	chr4:57978944-58331324	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv594207	chr4:57987433-58098554	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:58016200-58022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:58016200-58022600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:58018000-58022800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:58018200-58022400	Weak transcription	HMEC	breast
5	chr4:58018400-58022400	Weak transcription	NHEK	skin
6	chr4:58019400-58021800	Enhancers	Hela-S3	cervix
7	chr4:58020000-58021800	Weak transcription	Fetal Heart	heart
8	chr4:58020400-58021800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:58020400-58023600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:58020600-58023600	Weak transcription	Fetal Brain Male	brain
11	chr4:58020600-58025400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:58021000-58022400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:58021000-58022800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:58021000-58023400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:58021000-58029000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:58021000-58029000	Weak transcription	NH-A	brain
17	chr4:58021200-58022800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:58021200-58023200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:58021400-58022400	Weak transcription	A549	lung
20	chr4:58021400-58022600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:58021400-58023200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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