Variant report

Variant	rs4835922
Chromosome Location	chr5:126418134-126418135
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10035217	0.82[EUR][1000 genomes]
rs10038644	0.87[EUR][1000 genomes]
rs10041457	0.87[EUR][1000 genomes]
rs10051184	0.81[EUR][1000 genomes]
rs10053382	0.96[CEU][hapmap]
rs10057084	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes]
rs10060747	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs10062622	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10065302	0.96[CEU][hapmap]
rs10067364	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[EUR][1000 genomes]
rs10071669	0.92[CEU][hapmap];0.95[CHB][hapmap]
rs1013662	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1034844	0.96[CEU][hapmap]
rs10463826	0.83[EUR][1000 genomes]
rs10491284	0.96[CEU][hapmap];0.90[CHB][hapmap]
rs10900789	0.92[CEU][hapmap]
rs11241912	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs11241916	0.83[EUR][1000 genomes]
rs11949302	0.92[CEU][hapmap];0.95[CHB][hapmap]
rs11956061	0.92[CEU][hapmap]
rs11960799	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12515192	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs12655640	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[EUR][1000 genomes]
rs12657369	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes]
rs13154281	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13189409	0.85[EUR][1000 genomes]
rs13190493	0.87[EUR][1000 genomes]
rs1543815	0.88[EUR][1000 genomes]
rs1860440	0.86[EUR][1000 genomes]
rs1860441	0.83[EUR][1000 genomes]
rs2041318	0.89[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs2108458	0.85[EUR][1000 genomes]
rs2108459	0.85[EUR][1000 genomes]
rs2191209	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2240527	0.96[CEU][hapmap]
rs2240528	0.96[CEU][hapmap]
rs2408788	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2408789	0.88[EUR][1000 genomes]
rs248040	0.81[CHB][hapmap]
rs248042	0.83[EUR][1000 genomes]
rs248081	0.85[CEU][hapmap]
rs248091	0.81[EUR][1000 genomes]
rs248093	0.80[EUR][1000 genomes]
rs248094	0.80[EUR][1000 genomes]
rs248107	0.89[CEU][hapmap]
rs248111	0.80[EUR][1000 genomes]
rs3915634	0.86[EUR][1000 genomes]
rs3936304	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3936305	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4131248	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs4455612	0.85[EUR][1000 genomes]
rs4835921	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[EUR][1000 genomes]
rs4836306	0.83[EUR][1000 genomes]
rs4836307	0.96[CEU][hapmap]
rs4836310	0.87[EUR][1000 genomes]
rs4836313	0.87[EUR][1000 genomes]
rs6595746	0.81[EUR][1000 genomes]
rs6860726	0.93[CEU][hapmap];0.95[CHB][hapmap]
rs6873502	0.87[EUR][1000 genomes]
rs6875043	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6881948	0.87[EUR][1000 genomes]
rs6883106	0.88[EUR][1000 genomes]
rs6883627	0.87[EUR][1000 genomes]
rs6883871	0.96[CEU][hapmap];0.95[CHB][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6884988	0.87[EUR][1000 genomes]
rs6887929	0.80[EUR][1000 genomes]
rs6891436	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs6899133	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs727038	0.89[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs729607	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs7706333	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7713933	0.93[CEU][hapmap];0.95[CHB][hapmap]
rs7731621	0.93[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7733551	0.96[CEU][hapmap]
rs7734890	0.87[EUR][1000 genomes]
rs7736693	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs9327424	0.84[EUR][1000 genomes]
rs9327426	0.84[EUR][1000 genomes]
rs9327428	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9687751	0.83[EUR][1000 genomes]
rs9687752	0.83[EUR][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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1816248	chr5:126399039-126486539	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4835922	MARCH3	cis	Muscle Skeletal	GTEx
rs4835922	C5orf63	cis	Artery Tibial	GTEx
rs4835922	C5orf63	cis	Esophagus Muscularis	GTEx
rs4835922	C5orf63	cis	Artery Aorta	GTEx
rs4835922	C5orf63	cis	Nerve Tibial	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126412600-126427400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:126413600-126421800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126413600-126424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:126413600-126428000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:126416200-126418600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126416200-126420800	Weak transcription	NHEK	skin
7	chr5:126416200-126423600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:126416400-126419000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:126416400-126420400	Weak transcription	K562	blood
10	chr5:126416400-126421200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:126416400-126421800	Weak transcription	Fetal Intestine Small	intestine
12	chr5:126416800-126418800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:126416800-126418800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:126416800-126418800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:126416800-126419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:126416800-126421000	Weak transcription	HMEC	breast
17	chr5:126416800-126421800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:126416800-126428200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:126417000-126418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:126417000-126418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:126417000-126419000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:126417000-126419600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:126417000-126421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:126417000-126421400	Weak transcription	Fetal Intestine Large	intestine
25	chr5:126417200-126418600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:126418000-126418200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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