Variant report

Variant	rs318038
Chromosome Location	chr5:41418135-41418136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13155537	0.96[EUR][1000 genomes]
rs161088	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1613321	1.00[GIH][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs178466	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1817334	0.91[CEU][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445889	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs318029	0.91[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318030	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318031	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318035	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs318036	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs319002	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319003	1.00[ASN][1000 genomes]
rs319004	0.91[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319007	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319009	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319011	0.91[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs319012	0.91[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs320604	1.00[ASN][1000 genomes]
rs453636	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360428	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360566	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360568	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360569	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62360573	0.96[EUR][1000 genomes]
rs638701	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897807	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1851387	chr5:41336050-41423631	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1024631	chr5:41341979-41427953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41409800-41418400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:41412800-41418400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:41413000-41419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:41413200-41419400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:41413600-41425400	Weak transcription	Ovary	ovary
6	chr5:41413800-41418200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:41414400-41419800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:41414400-41420600	Enhancers	Fetal Heart	heart
9	chr5:41414800-41418200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:41414800-41418400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:41415200-41418200	Weak transcription	HSMM	muscle
12	chr5:41416400-41419000	Enhancers	NHDF-Ad	bronchial
13	chr5:41416600-41418400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:41416800-41418400	Weak transcription	HMEC	breast
15	chr5:41416800-41418800	Weak transcription	Hela-S3	cervix
16	chr5:41417400-41418400	Enhancers	A549	lung
17	chr5:41417600-41419600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:41417800-41418200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:41417800-41419000	Enhancers	NHLF	lung
20	chr5:41417800-41419200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:41417800-41419200	Enhancers	Right Atrium	heart
22	chr5:41417800-41419400	Enhancers	NH-A	brain
23	chr5:41418000-41419200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:41418000-41419200	Enhancers	Osteobl	bone
25	chr5:41418000-41433000	Weak transcription	Left Ventricle	heart

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