Variant report

Variant	rs1523994
Chromosome Location	chr1:85890726-85890727
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	chr1:85875979..85878822-chr1:85889098..85890895,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1006988	0.84[CEU][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes]
rs10489510	0.89[CEU][hapmap]
rs10747318	0.89[CEU][hapmap]
rs10782549	0.88[CEU][hapmap];0.81[AFR][1000 genomes]
rs10873701	0.89[CEU][hapmap]
rs10873702	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11161611	0.83[YRI][hapmap]
rs1146374	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033483	0.82[CEU][hapmap]
rs12034249	0.89[CEU][hapmap]
rs1261681	0.86[AFR][1000 genomes]
rs1342323	0.88[CEU][hapmap]
rs1357635	0.89[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes]
rs1357636	0.88[CEU][hapmap]
rs1523995	0.89[CEU][hapmap];0.80[AFR][1000 genomes]
rs1554597	0.91[YRI][hapmap]
rs1608537	0.81[AFR][1000 genomes]
rs17384213	0.89[CEU][hapmap]
rs17388696	0.82[CEU][hapmap]
rs1965876	0.81[AFR][1000 genomes]
rs1975755	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2016104	0.89[CEU][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs2124139	0.88[CEU][hapmap]
rs2177461	0.92[YRI][hapmap]
rs2300633	0.89[CEU][hapmap]
rs2389948	0.89[AFR][1000 genomes]
rs2840319	0.83[AFR][1000 genomes]
rs539714	1.00[CEU][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes]
rs561422	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs570121	0.90[ASN][1000 genomes]
rs600098	0.89[AFR][1000 genomes]
rs604974	0.84[AFR][1000 genomes]
rs631817	0.85[AFR][1000 genomes]
rs6420965	0.83[AFR][1000 genomes]
rs659070	0.82[CEU][hapmap];0.84[AFR][1000 genomes]
rs6672870	0.88[CEU][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes]
rs6697083	0.84[JPT][hapmap]
rs6704103	0.83[YRI][hapmap]
rs7515261	0.89[CEU][hapmap]
rs7546931	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7547571	0.83[AFR][1000 genomes]
rs990916	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85874000-85903800	Weak transcription	NHLF	lung
2	chr1:85874200-85903600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:85874400-85903600	Weak transcription	HepG2	liver
4	chr1:85874400-85904200	Weak transcription	NH-A	brain
5	chr1:85883200-85893400	Weak transcription	Aorta	Aorta
6	chr1:85886400-85899000	Weak transcription	NHDF-Ad	bronchial
7	chr1:85886400-85903800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:85886400-85914200	Weak transcription	HSMMtube	muscle
9	chr1:85886800-85897200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:85886800-85903800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:85887200-85893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:85887600-85902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:85887600-85903400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:85888600-85893400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:85889800-85892400	Enhancers	HUVEC	blood vessel
16	chr1:85889800-85893000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:85890000-85891200	Enhancers	Stomach Mucosa	stomach
18	chr1:85890000-85891800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:85890000-85894200	Weak transcription	HSMM	muscle
20	chr1:85890200-85891000	Weak transcription	Osteobl	bone
21	chr1:85890400-85902200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:85890600-85890800	Enhancers	Fetal Lung	lung
23	chr1:85890600-85891000	Weak transcription	Liver	Liver
24	chr1:85890600-85892000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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