Variant report

Variant	rs2357078
Chromosome Location	chr4:147271234-147271235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10050271	0.94[EUR][1000 genomes]
rs10212747	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11100922	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12374207	0.84[EUR][1000 genomes]
rs12645587	0.94[EUR][1000 genomes]
rs13109522	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13116650	0.83[EUR][1000 genomes]
rs13117626	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13143634	0.93[EUR][1000 genomes]
rs1385847	0.84[EUR][1000 genomes]
rs1485953	0.93[EUR][1000 genomes]
rs2062436	0.94[EUR][1000 genomes]
rs2062438	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3849033	0.84[EUR][1000 genomes]
rs3899576	0.84[EUR][1000 genomes]
rs4103543	0.93[EUR][1000 genomes]
rs6537411	0.82[ASN][1000 genomes]
rs6537414	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6537417	0.94[EUR][1000 genomes]
rs6844812	0.92[EUR][1000 genomes]
rs6849067	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7689364	0.90[EUR][1000 genomes]
rs923166	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs962628	0.93[EUR][1000 genomes]
rs9991483	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3451660	chr4:147225135-147271246	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	esv3400231	chr4:147269396-147292066	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147241800-147284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:147270600-147271600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:147270800-147271600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:147270800-147271600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr4:147270800-147271600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr4:147270800-147271600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:147270800-147271600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:147271000-147271400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:147271000-147271400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr4:147271000-147271600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr4:147271000-147271600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr4:147271000-147271600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:147271000-147271600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr4:147271000-147271600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr4:147271000-147271600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr4:147271000-147271600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:147271200-147271600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:147271200-147271600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:147271200-147271600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr4:147271200-147271600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:147271200-147271600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:147271200-147271600	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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