Variant report

Variant	rs4695355
Chromosome Location	chr4:48189710-48189711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12499674	0.91[ASN][1000 genomes]
rs13136179	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13146265	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17655249	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs2352592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28578119	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4235153	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4312730	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4352448	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4694887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695356	0.81[EUR][1000 genomes]
rs55869455	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6447617	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6818552	0.91[ASN][1000 genomes]
rs6845258	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[ASN][1000 genomes]
rs9715214	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS 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	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 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	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
2	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:48175800-48191600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:48178000-48192400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:48183200-48194800	Weak transcription	Fetal Thymus	thymus
6	chr4:48185600-48192400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:48185800-48189800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:48185800-48197000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:48186000-48194800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:48188600-48196000	Weak transcription	Lung	lung
11	chr4:48189400-48189800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:48189400-48190200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:48189400-48190400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr4:48189600-48189800	Genic enhancers	GM12878-XiMat	blood
15	chr4:48189600-48190000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:48189600-48190200	Enhancers	Primary hematopoietic stem cells	blood
17	chr4:48189600-48190200	Enhancers	Adipose Nuclei	Adipose
18	chr4:48189600-48190200	Enhancers	Fetal Intestine Large	intestine
19	chr4:48189600-48190400	Enhancers	K562	blood
20	chr4:48189600-48190400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr4:48189600-48190600	Enhancers	Fetal Heart	heart

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