Variant report

Variant	rs12603232
Chromosome Location	chr17:63155764-63155765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63120023..63122659-chr17:63155151..63157208,2	MCF-7	breast:
2	chr17:63144698..63147268-chr17:63155004..63157714,2	K562	blood:
3	chr17:63150789..63152778-chr17:63153829..63156170,2	MCF-7	breast:
4	chr17:63154994..63157308-chr17:63182219..63184925,2	MCF-7	breast:
5	chr17:63152855..63155592-chr17:63155729..63157725,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108370	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12453132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12453147	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs12600387	1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12600391	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs16960673	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16960810	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1877822	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2014681	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58338644	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59622366	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60480413	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60814564	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72850394	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8069964	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs884973	0.92[ASN][1000 genomes]
rs9303480	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs9897302	0.89[ASN][1000 genomes]
rs9900252	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12603232	PRAC	trans	lymphoblastoid	seeQTL

Chromatin state (count:26 , 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	chr17:63148400-63160000	Weak transcription	Lung	lung
6	chr17:63150200-63162800	Weak transcription	Fetal Stomach	stomach
7	chr17:63150400-63156800	Enhancers	Fetal Thymus	thymus
8	chr17:63151000-63156800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:63151400-63156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:63151400-63160000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:63151600-63156600	Weak transcription	Brain Anterior Caudate	brain
12	chr17:63151600-63156800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr17:63151800-63160200	Weak transcription	Spleen	Spleen
14	chr17:63152000-63156600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:63152000-63159800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr17:63152400-63156200	Enhancers	Thymus	Thymus
17	chr17:63152400-63159800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:63153600-63159800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:63153600-63175400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr17:63154400-63156600	Enhancers	Dnd41	blood
21	chr17:63154600-63156600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:63155200-63156800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr17:63155200-63159600	Weak transcription	K562	blood
24	chr17:63155200-63160000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr17:63155400-63156000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr17:63155600-63156600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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