Variant report

Variant	rs4077350
Chromosome Location	chr5:95454369-95454370
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10056771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10079268	0.84[EUR][1000 genomes]
rs10085034	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11740207	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11949461	0.95[EUR][1000 genomes]
rs11951463	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs11956456	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11960219	0.95[EUR][1000 genomes]
rs13155375	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13172783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13172805	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13186419	0.94[EUR][1000 genomes]
rs2067498	0.91[EUR][1000 genomes]
rs4128178	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs4270717	0.81[EUR][1000 genomes]
rs4367316	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4416625	0.81[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs4479864	0.83[EUR][1000 genomes]
rs4513721	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4869256	0.81[CEU][hapmap]
rs4869258	0.80[EUR][1000 genomes]
rs4869259	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869260	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4869264	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4869266	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4998057	0.81[EUR][1000 genomes]
rs6556899	0.81[EUR][1000 genomes]
rs66683317	0.81[EUR][1000 genomes]
rs6866723	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs6873504	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6879658	0.83[EUR][1000 genomes]
rs6879847	0.83[EUR][1000 genomes]
rs6884999	0.81[EUR][1000 genomes]
rs6886983	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6889697	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6894768	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6895121	0.82[EUR][1000 genomes]
rs6895146	0.82[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs7341111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7700425	0.82[EUR][1000 genomes]
rs7702346	0.91[EUR][1000 genomes]
rs7702646	0.91[EUR][1000 genomes]
rs7710337	0.82[EUR][1000 genomes]
rs7715650	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7734224	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7734985	0.96[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9314165	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95430600-95454400	Weak transcription	Aorta	Aorta
2	chr5:95445400-95455800	Weak transcription	Gastric	stomach
3	chr5:95449200-95454600	Enhancers	Fetal Intestine Small	intestine
4	chr5:95451000-95454400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:95451200-95461000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:95451400-95454400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:95451400-95460800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:95451400-95461200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:95452000-95455600	Weak transcription	HUVEC	blood vessel
10	chr5:95452200-95455400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:95452200-95456000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:95452600-95454800	Enhancers	NHLF	lung
13	chr5:95453200-95454800	Enhancers	Stomach Mucosa	stomach
14	chr5:95453200-95456200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:95453400-95454800	Enhancers	Colon Smooth Muscle	Colon
16	chr5:95453400-95454800	Enhancers	Fetal Intestine Large	intestine
17	chr5:95453400-95456000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:95453600-95454600	Flanking Active TSS	Liver	Liver
19	chr5:95453600-95454800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:95453600-95454800	Enhancers	A549	lung
21	chr5:95453600-95455000	Enhancers	HMEC	breast
22	chr5:95453600-95455200	Enhancers	NHEK	skin
23	chr5:95453600-95455400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:95453600-95455600	Enhancers	Osteobl	bone
25	chr5:95453600-95457000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:95453600-95460600	Enhancers	HepG2	liver
27	chr5:95453800-95454800	Enhancers	Small Intestine	intestine
28	chr5:95453800-95454800	Enhancers	NHDF-Ad	bronchial
29	chr5:95453800-95455000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:95453800-95455000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:95454000-95454800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:95454000-95454800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:95454000-95454800	Enhancers	HSMM	muscle
34	chr5:95454000-95454800	Enhancers	HSMMtube	muscle
35	chr5:95454200-95454400	Enhancers	Duodenum Mucosa	Duodenum
36	chr5:95454200-95454600	Weak transcription	Pancreas	Pancrea

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