Variant report

Variant	rs9674670
Chromosome Location	chr17:45386157-45386158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45384246..45386352-chr17:45388308..45390190,2	K562	blood:
2	chr17:45377393..45379681-chr17:45383404..45387690,4	K562	blood:
3	chr17:45384852..45386480-chr17:45387165..45389808,2	K562	blood:
4	chr17:45386092..45388850-chr17:45390487..45392389,2	K562	blood:
5	chr17:45381937..45384032-chr17:45385184..45387795,2	K562	blood:
6	chr17:45377393..45380597-chr17:45384667..45388953,5	K562	blood:
7	chr17:45386047..45389088-chr17:45398198..45402179,3	K562	blood:

Variant related genes	Relation type
ENSG00000178852	Chromatin interaction
ENSG00000263293	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11655943	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12600603	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12603582	0.86[ASN][1000 genomes]
rs1912483	0.81[ASN][1000 genomes]
rs2317631	0.81[ASN][1000 genomes]
rs35016056	0.81[ASN][1000 genomes]
rs3809863	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968317	0.85[ASN][1000 genomes]
rs62076461	0.81[ASN][1000 genomes]
rs6504872	0.81[ASN][1000 genomes]
rs7206971	0.83[ASN][1000 genomes]
rs7209109	0.86[ASN][1000 genomes]
rs7214410	0.81[ASN][1000 genomes]
rs7220606	0.81[AMR][1000 genomes]
rs7221196	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9303533	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9912450	0.82[AFR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9674670	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs9674670	TBKBP1	cis	Nerve Tibial	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
2	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:45371400-45393000	Weak transcription	Dnd41	blood
4	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
5	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain
8	chr17:45375400-45388400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr17:45376200-45389200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:45379600-45390400	Weak transcription	Fetal Intestine Small	intestine
11	chr17:45380200-45392800	Weak transcription	Brain Hippocampus Middle	brain
12	chr17:45380400-45387800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr17:45381400-45392600	Weak transcription	Liver	Liver
14	chr17:45381800-45387400	Weak transcription	Placenta	Placenta
15	chr17:45381800-45387600	Weak transcription	Fetal Intestine Large	intestine
16	chr17:45381800-45392800	Weak transcription	Left Ventricle	heart
17	chr17:45382800-45387400	Weak transcription	Aorta	Aorta
18	chr17:45382800-45394600	Weak transcription	Small Intestine	intestine
19	chr17:45382800-45400800	Weak transcription	Lung	lung
20	chr17:45383000-45388400	Weak transcription	Spleen	Spleen
21	chr17:45383000-45389600	Strong transcription	Fetal Muscle Leg	muscle
22	chr17:45383200-45387400	Weak transcription	K562	blood
23	chr17:45383200-45387600	Weak transcription	Fetal Heart	heart
24	chr17:45383600-45387600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr17:45383600-45387800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr17:45383600-45392400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:45383600-45392600	Weak transcription	Adipose Nuclei	Adipose
28	chr17:45383800-45386400	Weak transcription	Ovary	ovary
29	chr17:45383800-45387400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:45383800-45387800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:45383800-45387800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:45383800-45391000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:45383800-45391200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:45383800-45392000	Weak transcription	HSMM	muscle
35	chr17:45383800-45392000	Weak transcription	NH-A	brain
36	chr17:45383800-45392200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:45384000-45390000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:45384000-45392000	Weak transcription	NHLF	lung
39	chr17:45384600-45386200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr17:45384600-45389000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:45384800-45389000	Strong transcription	Colon Smooth Muscle	Colon
42	chr17:45384800-45389200	Strong transcription	Fetal Stomach	stomach
43	chr17:45385000-45387600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:45385000-45387600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr17:45385000-45388400	Strong transcription	NHDF-Ad	bronchial
46	chr17:45385000-45391200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:45385000-45392600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr17:45385200-45387200	Weak transcription	HUVEC	blood vessel
49	chr17:45385200-45387400	Weak transcription	Hela-S3	cervix
50	chr17:45385200-45387400	Weak transcription	HSMMtube	muscle

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