Variant report

Variant	rs346521
Chromosome Location	chr4:86847640-86847641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1027942	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11097082	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13121761	1.00[CEU][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17011166	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs186969	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2904084	0.99[EUR][1000 genomes]
rs346509	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346510	1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs346513	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs346516	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs346517	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs346520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3806762	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6531876	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7663884	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7664621	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7685851	1.00[CEU][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs958887	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9790515	0.80[AMR][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	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86827600-86850600	Weak transcription	Spleen	Spleen
2	chr4:86831200-86851000	Weak transcription	Aorta	Aorta
3	chr4:86836000-86848800	Weak transcription	Fetal Kidney	kidney
4	chr4:86840600-86849800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:86841400-86849400	Weak transcription	A549	lung
6	chr4:86841600-86848800	Weak transcription	Stomach Mucosa	stomach
7	chr4:86843000-86849200	Weak transcription	Left Ventricle	heart
8	chr4:86843000-86850600	Weak transcription	Psoas Muscle	Psoas
9	chr4:86843200-86849000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:86843200-86849200	Weak transcription	Pancreas	Pancrea
11	chr4:86843200-86849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:86843200-86850000	Weak transcription	HSMMtube	muscle
13	chr4:86843200-86852400	Weak transcription	Esophagus	oesophagus
14	chr4:86843800-86848600	Strong transcription	Primary B cells from cord blood	blood
15	chr4:86844400-86853800	Weak transcription	Gastric	stomach
16	chr4:86844800-86850600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:86845000-86849200	Weak transcription	Adipose Nuclei	Adipose
18	chr4:86845000-86849800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:86845400-86849200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:86845600-86849000	Weak transcription	Fetal Lung	lung
21	chr4:86845600-86850800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:86845800-86850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:86846000-86849800	Weak transcription	Osteobl	bone
24	chr4:86846000-86850000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:86846000-86850200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:86846400-86851000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:86846600-86848600	Weak transcription	HUVEC	blood vessel
28	chr4:86846600-86849200	Weak transcription	NHDF-Ad	bronchial
29	chr4:86846600-86850000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:86847000-86848400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:86847000-86850000	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:86847000-86850000	Weak transcription	HSMM	muscle
33	chr4:86847000-86853200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr4:86847400-86849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:86847400-86850000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:86847600-86850200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:86847600-86850400	Weak transcription	Fetal Heart	heart

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