Variant report

Variant	rs1441367
Chromosome Location	chr5:112023011-112023012
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	chr5:112017960..112020508-chr5:112020777..112023084,3	K562	blood:
2	chr5:112018915..112020508-chr5:112020831..112023084,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10051624	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10071425	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10072068	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10075281	0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10075323	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10075377	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10213844	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10463642	0.95[ASN][1000 genomes]
rs10477483	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241182	0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11241183	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11241185	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs11749632	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11749701	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12332692	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12513787	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12518091	0.82[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs12658609	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12719151	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs13156251	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13173990	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1530256	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17134858	0.90[CHB][hapmap]
rs17285505	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1866924	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1914	0.85[CEU][hapmap]
rs1968557	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1974786	0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2019720	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2099810	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2431239	0.82[EUR][1000 genomes]
rs2431241	0.85[CEU][hapmap]
rs2431512	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2439589	0.82[EUR][1000 genomes]
rs2546106	0.89[CEU][hapmap]
rs2546108	0.85[CEU][hapmap]
rs2546112	0.85[CHB][hapmap]
rs2546117	0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs2707763	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2707765	0.80[CHB][hapmap];0.81[EUR][1000 genomes]
rs28578275	0.83[EUR][1000 genomes]
rs2901844	0.82[EUR][1000 genomes]
rs35414976	0.82[EUR][1000 genomes]
rs414098	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs458906	0.80[EUR][1000 genomes]
rs467033	0.81[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs4705486	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4705559	0.81[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4705573	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4705608	0.82[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4705610	0.81[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4705624	0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4705815	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs4705816	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs566419	0.80[CHB][hapmap]
rs6594646	0.81[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6862050	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6864688	0.83[EUR][1000 genomes]
rs6879057	0.81[EUR][1000 genomes]
rs6893949	0.83[EUR][1000 genomes]
rs7704618	0.82[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7727738	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9326863	0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs953916	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9647582	0.83[EUR][1000 genomes]
rs9647583	0.83[EUR][1000 genomes]
rs971517	0.85[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112018800-112024200	Weak transcription	K562	blood
2	chr5:112020400-112024800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112020600-112023200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:112020600-112024200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:112020800-112025000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:112021000-112023400	Enhancers	HSMMtube	muscle
7	chr5:112021000-112026600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:112021000-112026600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:112021600-112023400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:112021800-112030600	Weak transcription	Osteobl	bone
11	chr5:112022000-112023400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:112022000-112023400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:112022200-112023200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:112022200-112025200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:112022200-112026400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:112022400-112023400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:112022600-112023400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:112022600-112023400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:112022600-112023600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:112022600-112030600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:112022800-112023600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:112022800-112023600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:112023000-112024200	Enhancers	Brain Germinal Matrix	brain

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