Variant report

Variant	rs12600391
Chromosome Location	chr17:63162476-63162477
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	chr17:63159589..63162697-chr17:63164587..63167490,3	K562	blood:
2	chr17:63160915..63162697-chr17:63164996..63166925,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12453132	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs12453147	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs12600387	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12603232	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs16960673	0.95[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs16960810	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1877822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2014681	0.94[ASN][1000 genomes]
rs58338644	0.97[ASN][1000 genomes]
rs59622366	0.99[ASN][1000 genomes]
rs60480413	0.99[ASN][1000 genomes]
rs60814564	0.99[ASN][1000 genomes]
rs72850394	0.91[ASN][1000 genomes]
rs8069964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs884973	0.99[ASN][1000 genomes]
rs9303480	0.93[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs9897302	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9900252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9909394	0.83[CEU][hapmap]
rs9914672	0.94[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63134400-63169000	Weak transcription	Colon Smooth Muscle	Colon
2	chr17:63141000-63175200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:63143600-63169400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:63145800-63167000	Weak transcription	Aorta	Aorta
5	chr17:63150200-63162800	Weak transcription	Fetal Stomach	stomach
6	chr17:63153600-63175400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr17:63156000-63164400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr17:63156600-63165600	Weak transcription	Dnd41	blood
9	chr17:63157000-63179800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:63157200-63169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:63159800-63162800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr17:63160000-63180400	Weak transcription	Brain Substantia Nigra	brain
13	chr17:63160400-63164600	Weak transcription	Brain Anterior Caudate	brain
14	chr17:63160400-63166800	Weak transcription	Lung	lung
15	chr17:63160400-63167200	Weak transcription	Thymus	Thymus
16	chr17:63160400-63168800	Weak transcription	A549	lung
17	chr17:63160600-63169200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:63160600-63169600	Weak transcription	Spleen	Spleen
19	chr17:63160800-63162800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:63160800-63166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:63160800-63166600	Weak transcription	Fetal Thymus	thymus
22	chr17:63160800-63167800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:63160800-63169400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr17:63160800-63169400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr17:63161400-63164200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr17:63161800-63162800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:63162000-63167200	Weak transcription	K562	blood

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