Variant report

Variant	rs7444438
Chromosome Location	chr5:127327929-127327930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10040931	0.83[CEU][hapmap]
rs10052149	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10055964	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10057048	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10059403	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10076010	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10463835	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10463836	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478787	0.85[CEU][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10478788	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10478790	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10478791	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10478792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10519968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745009	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11745023	0.82[CEU][hapmap]
rs12523625	0.85[CEU][hapmap]
rs13154863	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13161109	0.86[EUR][1000 genomes]
rs13167871	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13169878	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13177354	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13180050	0.80[EUR][1000 genomes]
rs13184942	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558149	0.85[CEU][hapmap]
rs17606751	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2041143	0.83[CEU][hapmap]
rs2108652	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34498802	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35673135	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35713319	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4141241	0.84[JPT][hapmap]
rs4836352	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836354	0.93[ASN][1000 genomes]
rs5008451	0.89[CEU][hapmap]
rs6867103	0.88[CEU][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6867442	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6867465	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6867644	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6889393	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6892704	0.85[CEU][hapmap]
rs6897353	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732236	0.85[CEU][hapmap];0.84[YRI][hapmap];0.80[EUR][1000 genomes]
rs7711776	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7719691	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7723104	0.84[JPT][hapmap]
rs7732912	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9327458	0.92[YRI][hapmap]
rs9327460	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9327461	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9327462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv599665	chr5:127327649-127336709	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv511301	chr5:127327649-127337086	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127290600-127332000	Weak transcription	Aorta	Aorta
2	chr5:127297600-127332000	Weak transcription	Primary B cells from cord blood	blood
3	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:127304000-127333400	Weak transcription	Primary T cells from cord blood	blood
5	chr5:127306600-127333200	Weak transcription	Psoas Muscle	Psoas
6	chr5:127318000-127328800	Weak transcription	Stomach Mucosa	stomach
7	chr5:127323800-127328000	Weak transcription	Esophagus	oesophagus
8	chr5:127323800-127338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:127324000-127331200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:127324000-127333200	Weak transcription	Left Ventricle	heart
11	chr5:127324000-127333200	Weak transcription	Pancreas	Pancrea
12	chr5:127324000-127350400	Weak transcription	HSMMtube	muscle
13	chr5:127324200-127330800	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:127324200-127332200	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:127324200-127334800	Weak transcription	K562	blood
16	chr5:127324200-127342800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:127324400-127329200	Weak transcription	A549	lung
18	chr5:127324400-127329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:127324400-127334400	Weak transcription	Gastric	stomach
20	chr5:127324400-127337400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:127324400-127337400	Weak transcription	HMEC	breast
22	chr5:127324400-127337600	Weak transcription	NHEK	skin
23	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:127326200-127334800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
27	chr5:127327400-127328200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:127327800-127328400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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