Variant report

Variant	rs2099810
Chromosome Location	chr5:112030173-112030174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112023982..112026491-chr5:112028253..112030508,2	K562	blood:
2	chr5:112024489..112026491-chr5:112028253..112031270,3	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10051624	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10071425	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10072068	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10075281	0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10075323	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10075377	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10213844	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10463642	0.95[ASN][1000 genomes]
rs10477483	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241182	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11241183	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11241185	0.81[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs11749632	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11749701	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12332692	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12513787	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12513804	0.80[EUR][1000 genomes]
rs12518091	0.86[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs12658609	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12719151	0.81[EUR][1000 genomes]
rs13156251	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13173990	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1441367	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1530256	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134858	0.85[CHB][hapmap]
rs17285505	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1866924	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1914	0.82[CEU][hapmap]
rs1968557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974786	0.84[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2019720	0.82[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2229992	0.84[CHB][hapmap]
rs2289484	0.84[CHB][hapmap]
rs2431239	0.84[EUR][1000 genomes]
rs2431241	0.81[CEU][hapmap]
rs2431512	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2439589	0.84[EUR][1000 genomes]
rs2439595	0.80[CHB][hapmap]
rs2464803	0.84[CHB][hapmap]
rs2546108	0.81[CEU][hapmap]
rs2546110	0.84[CHB][hapmap]
rs2546112	0.90[CHB][hapmap]
rs2546117	0.91[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs2707763	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2707765	0.82[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs28578275	0.85[EUR][1000 genomes]
rs2901844	0.84[EUR][1000 genomes]
rs35414976	0.84[EUR][1000 genomes]
rs374613	0.84[CHB][hapmap]
rs382427	0.85[CHB][hapmap]
rs395858	0.83[CHB][hapmap]
rs396321	0.80[CEU][hapmap];0.84[CHB][hapmap]
rs414098	0.85[CEU][hapmap];0.85[CHB][hapmap];0.81[EUR][1000 genomes]
rs448162	0.84[CHB][hapmap]
rs458906	0.82[EUR][1000 genomes]
rs467033	0.85[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs4705486	0.81[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4705559	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4705573	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4705608	0.86[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4705610	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705624	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4705815	0.82[EUR][1000 genomes]
rs4705816	0.82[EUR][1000 genomes]
rs566419	0.85[CHB][hapmap]
rs6594646	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6862050	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6864688	0.84[EUR][1000 genomes]
rs6879057	0.82[EUR][1000 genomes]
rs6893949	0.80[EUR][1000 genomes]
rs7704618	0.86[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7727738	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9326863	0.90[CHB][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs953916	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9647582	0.85[EUR][1000 genomes]
rs9647583	0.84[EUR][1000 genomes]
rs971517	0.82[EUR][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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112021800-112030600	Weak transcription	Osteobl	bone
2	chr5:112022600-112030600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:112027000-112032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:112027200-112030600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:112027200-112030800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:112027600-112030400	Weak transcription	Dnd41	blood
7	chr5:112029000-112030200	Enhancers	K562	blood
8	chr5:112029200-112030600	Weak transcription	HSMMtube	muscle
9	chr5:112029800-112030800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:112029800-112031400	Enhancers	HSMM	muscle

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