Variant report

Variant	rs318037
Chromosome Location	chr5:41417826-41417827
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41415903..41418047-chr5:41420031..41421583,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1460956	1.00[AMR][1000 genomes]
rs160965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1675366	1.00[AMR][1000 genomes]
rs167626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1817335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs184372	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318024	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318025	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318026	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318028	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318032	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318033	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318848	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs680101	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7717606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs985850	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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:26 , 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	chr5:41415400-41418000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:41415600-41418000	Weak transcription	Osteobl	bone
14	chr5:41416400-41418000	Enhancers	Left Ventricle	heart
15	chr5:41416400-41419000	Enhancers	NHDF-Ad	bronchial
16	chr5:41416600-41418400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:41416800-41418400	Weak transcription	HMEC	breast
18	chr5:41416800-41418800	Weak transcription	Hela-S3	cervix
19	chr5:41417400-41418000	Enhancers	Right Ventricle	heart
20	chr5:41417400-41418400	Enhancers	A549	lung
21	chr5:41417600-41419600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:41417800-41418200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:41417800-41419000	Enhancers	NHLF	lung
24	chr5:41417800-41419200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:41417800-41419200	Enhancers	Right Atrium	heart
26	chr5:41417800-41419400	Enhancers	NH-A	brain

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