Variant report

Variant	rs4129437
Chromosome Location	chr5:60581371-60581372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60579962..60582786-chr5:60584342..60586019,2	K562	blood:
2	chr5:60579757..60581913-chr5:60583719..60586334,3	K562	blood:
3	chr5:60580863..60583742-chr5:60584311..60586835,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10037643	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10052765	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10065444	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10434526	0.82[ASN][1000 genomes]
rs10461467	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10471510	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10939892	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10939893	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12518152	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12523278	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs13175564	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs34439016	0.82[ASN][1000 genomes]
rs35310874	0.82[ASN][1000 genomes]
rs4400074	0.82[ASN][1000 genomes]
rs4441832	0.82[ASN][1000 genomes]
rs4699974	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4699975	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6864367	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6867268	0.81[ASN][1000 genomes]
rs6885499	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6892128	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.94[MKK][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs7444792	0.80[AMR][1000 genomes]
rs7737448	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs9291718	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4129437	DEPDC1B	cis	cerebellum	SCAN
rs4129437	CWC27	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60571800-60583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:60572000-60582400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:60573400-60586600	Weak transcription	Esophagus	oesophagus
4	chr5:60573400-60594800	Weak transcription	Right Atrium	heart
5	chr5:60574000-60585400	Weak transcription	Spleen	Spleen
6	chr5:60576600-60588800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:60577000-60582400	Weak transcription	NHLF	lung
8	chr5:60577200-60581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:60577200-60582000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:60577200-60582400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:60577200-60582400	Weak transcription	Pancreas	Pancrea
12	chr5:60577200-60582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:60577200-60582400	Weak transcription	HSMM	muscle
14	chr5:60577200-60582600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:60577200-60585400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:60577400-60582000	Weak transcription	NHDF-Ad	bronchial
17	chr5:60577400-60584800	Weak transcription	A549	lung
18	chr5:60577800-60581800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:60577800-60585200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:60580800-60581600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:60580800-60581800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr5:60581200-60582400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:60581200-60586000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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