Variant report

Variant	rs12029684
Chromosome Location	chr1:85889500-85889501
allele	A/G
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: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12021849	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12022443	0.92[EUR][1000 genomes]
rs12022538	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12023006	0.94[ASN][1000 genomes]
rs12023795	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12024405	0.94[ASN][1000 genomes]
rs12024508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12029474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12033170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12033315	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12033473	0.94[ASN][1000 genomes]
rs12034206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034481	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036146	0.94[ASN][1000 genomes]
rs12038279	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12039188	0.94[ASN][1000 genomes]
rs12041140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12042485	0.94[ASN][1000 genomes]
rs12043505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12043604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12045545	0.94[ASN][1000 genomes]
rs12046433	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12047139	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12047220	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12048263	0.94[ASN][1000 genomes]
rs12049582	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1851782	0.84[EUR][1000 genomes]
rs2300638	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28847138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3813603	0.94[ASN][1000 genomes]
rs485987	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs551786	0.84[EUR][1000 genomes]
rs58489234	0.92[ASN][1000 genomes]
rs61164145	0.84[EUR][1000 genomes]

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:21 , 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	chr1:85886800-85889800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:85886800-85897200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:85886800-85903800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:85887000-85889600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:85887000-85890000	Strong transcription	HSMM	muscle
14	chr1:85887200-85893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:85887600-85890200	Strong transcription	Osteobl	bone
16	chr1:85887600-85902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:85887600-85903400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:85888000-85890000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:85888400-85890200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:85888600-85893400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:85889400-85889800	Genic enhancers	HUVEC	blood vessel

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