Variant report

Variant	rs4513644
Chromosome Location	chr5:57133145-57133146
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57129335..57131464-chr5:57132447..57134423,2	K562	blood:
2	chr5:57131157..57133678-chr5:57139848..57142314,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10057880	1.00[YRI][hapmap]
rs10072292	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1347071	1.00[YRI][hapmap]
rs1821210	1.00[ASW][hapmap];0.93[CEU][hapmap];0.85[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1861059	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2408854	1.00[ASW][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2568537	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4235475	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4235476	0.82[GIH][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs4285175	0.90[GIH][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4317282	0.91[AFR][1000 genomes]
rs4380607	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4403130	1.00[ASW][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4421067	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4458541	1.00[ASW][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4699913	1.00[ASW][hapmap];0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700231	0.91[AFR][1000 genomes]
rs4700233	1.00[ASW][hapmap];0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6450442	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6450444	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6896848	0.91[AFR][1000 genomes]
rs702701	0.91[AFR][1000 genomes]
rs7701200	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs854024	0.91[AFR][1000 genomes]
rs854028	0.91[AFR][1000 genomes]
rs854031	0.91[AFR][1000 genomes]
rs854033	0.91[AFR][1000 genomes]
rs854035	0.91[AFR][1000 genomes]
rs854036	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs854045	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs854046	0.91[AFR][1000 genomes]
rs854048	0.91[AFR][1000 genomes]
rs854049	0.91[AFR][1000 genomes]
rs854050	0.91[AFR][1000 genomes]
rs854053	0.91[AFR][1000 genomes]
rs868049	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs897264	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57127400-57137400	Enhancers	NHEK	skin
2	chr5:57129200-57133800	Weak transcription	Placenta	Placenta
3	chr5:57129200-57136800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:57130200-57136000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:57130200-57139200	Enhancers	HMEC	breast
6	chr5:57130600-57134800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:57130600-57137800	Enhancers	HSMM	muscle
8	chr5:57131200-57137800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:57131400-57134000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:57131400-57136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:57131400-57137400	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:57131400-57140000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:57131400-57141000	Weak transcription	Left Ventricle	heart
14	chr5:57131600-57134000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:57131600-57134000	Weak transcription	Fetal Stomach	stomach
16	chr5:57131600-57137200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:57131600-57137400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:57131800-57136800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:57132000-57136800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:57132000-57137800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:57132200-57133400	Weak transcription	NHLF	lung
22	chr5:57132400-57137200	Weak transcription	Fetal Brain Male	brain
23	chr5:57132600-57137400	Enhancers	HUVEC	blood vessel
24	chr5:57132600-57137600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:57132800-57133600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:57132800-57135000	Enhancers	Osteobl	bone
27	chr5:57132800-57135800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:57132800-57137400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:57132800-57139000	Enhancers	NHDF-Ad	bronchial
30	chr5:57133000-57133200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:57133000-57133200	Flanking Active TSS	A549	lung
32	chr5:57133000-57134800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:57133000-57135600	Enhancers	NH-A	brain
34	chr5:57133000-57135800	Enhancers	Hela-S3	cervix
35	chr5:57133000-57137800	Enhancers	HSMMtube	muscle

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