Variant report

Variant	rs6886983
Chromosome Location	chr5:95459412-95459413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10045777	0.81[AFR][1000 genomes]
rs10056771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10079268	0.84[EUR][1000 genomes]
rs10085034	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11740207	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11949461	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11951463	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs11956456	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960219	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13155375	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13172783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13172805	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13186419	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2067498	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4077350	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4128178	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs4270717	0.81[EUR][1000 genomes]
rs4367316	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4416625	0.84[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs4479864	0.84[EUR][1000 genomes]
rs4513721	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4869256	0.84[CEU][hapmap]
rs4869258	0.81[EUR][1000 genomes]
rs4869259	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869260	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869264	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4869266	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4998057	0.81[EUR][1000 genomes]
rs6556899	0.81[EUR][1000 genomes]
rs66683317	0.81[EUR][1000 genomes]
rs6866723	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs6873504	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879658	0.84[EUR][1000 genomes]
rs6879847	0.84[EUR][1000 genomes]
rs6884999	0.81[EUR][1000 genomes]
rs6889697	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894768	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895121	0.82[EUR][1000 genomes]
rs6895146	0.85[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs7341111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7700425	0.82[EUR][1000 genomes]
rs7702346	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7702646	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7710337	0.82[EUR][1000 genomes]
rs7715650	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7734224	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7734985	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9314165	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95451200-95461000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:95451400-95460800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:95451400-95461200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:95453600-95460600	Enhancers	HepG2	liver
5	chr5:95454600-95459600	Enhancers	Liver	Liver
6	chr5:95454800-95459800	Weak transcription	Pancreas	Pancrea
7	chr5:95454800-95460400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:95454800-95460800	Weak transcription	Fetal Intestine Large	intestine
9	chr5:95454800-95460800	Weak transcription	Stomach Mucosa	stomach
10	chr5:95454800-95460800	Weak transcription	A549	lung
11	chr5:95456000-95459800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:95456200-95459800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:95456200-95460000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:95456200-95460000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:95456200-95460400	Weak transcription	Fetal Heart	heart
16	chr5:95456200-95460800	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:95456200-95461200	Weak transcription	HSMM	muscle
18	chr5:95457200-95460200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:95457600-95460000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:95457800-95460200	Weak transcription	Osteobl	bone
21	chr5:95458200-95459800	Weak transcription	HMEC	breast
22	chr5:95458200-95460800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:95458800-95465800	Enhancers	NHEK	skin
24	chr5:95459000-95461400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:95459200-95459600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:95459400-95461000	Weak transcription	Aorta	Aorta

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