Variant report

Variant	rs9899121
Chromosome Location	chr17:45395144-45395145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45302596..45304693-chr17:45393589..45396501,2	MCF-7	breast:
2	chr17:45295037..45297924-chr17:45394687..45396289,2	K562	blood:
3	chr17:45302015..45304122-chr17:45394820..45397251,2	K562	blood:

Variant related genes	Relation type
ENSG00000198336	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11079772	0.82[EUR][1000 genomes]
rs11650072	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658426	0.82[EUR][1000 genomes]
rs12600865	0.82[EUR][1000 genomes]
rs2271803	0.82[EUR][1000 genomes]
rs2317677	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34589418	0.82[EUR][1000 genomes]
rs35161461	0.81[EUR][1000 genomes]
rs35435669	0.82[EUR][1000 genomes]
rs35983484	0.81[EUR][1000 genomes]
rs3809865	0.81[EUR][1000 genomes]
rs4968314	0.82[EUR][1000 genomes]
rs4968316	0.81[EUR][1000 genomes]
rs6504833	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504836	0.82[EUR][1000 genomes]
rs7218813	0.82[EUR][1000 genomes]
rs7221232	0.81[EUR][1000 genomes]
rs7225700	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068200	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8075410	0.82[EUR][1000 genomes]
rs9303534	0.82[EUR][1000 genomes]
rs9893410	0.82[EUR][1000 genomes]
rs9894860	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9899121	KPNB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
2	chr17:45382800-45400800	Weak transcription	Lung	lung
3	chr17:45388400-45398000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:45388800-45400800	Weak transcription	Aorta	Aorta
5	chr17:45391200-45400800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:45392000-45395200	Enhancers	Osteobl	bone
7	chr17:45392400-45395600	Weak transcription	GM12878-XiMat	blood
8	chr17:45392800-45395200	Enhancers	Fetal Intestine Small	intestine
9	chr17:45393000-45398000	Weak transcription	Fetal Muscle Leg	muscle
10	chr17:45393000-45398200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:45393000-45400600	Weak transcription	Brain Angular Gyrus	brain
12	chr17:45393200-45395800	Weak transcription	HSMMtube	muscle
13	chr17:45393200-45400600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr17:45393200-45400600	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:45393200-45400600	Weak transcription	Fetal Heart	heart
16	chr17:45393200-45400600	Weak transcription	Pancreas	Pancrea
17	chr17:45393600-45395200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:45393600-45398000	Weak transcription	Fetal Stomach	stomach
19	chr17:45393600-45398400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:45393800-45395800	Weak transcription	A549	lung
21	chr17:45394200-45395200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:45394200-45400600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr17:45394200-45400600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:45394400-45395200	Enhancers	Stomach Mucosa	stomach
25	chr17:45394400-45400000	Weak transcription	HUVEC	blood vessel
26	chr17:45394600-45398400	Weak transcription	Adipose Nuclei	Adipose
27	chr17:45394800-45395400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:45394800-45399800	Weak transcription	Hela-S3	cervix
29	chr17:45394800-45400200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr17:45394800-45400400	Weak transcription	NH-A	brain
31	chr17:45394800-45400600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:45394800-45400600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:45395000-45395400	Weak transcription	HepG2	liver
34	chr17:45395000-45400000	Weak transcription	NHDF-Ad	bronchial

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