Variant report

Variant	rs4480181
Chromosome Location	chr9:115971971-115971972
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115967370..115970332-chr9:115970623..115973932,3	K562	blood:
2	chr9:115913327..115916086-chr9:115970304..115972231,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119321	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10513188	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10513190	0.85[GIH][hapmap];0.92[MKK][hapmap]
rs11787959	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11788084	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11790645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11793226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11794592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11794908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13284852	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17762372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2233913	0.81[GIH][hapmap];0.92[MKK][hapmap]
rs34320546	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34345384	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34560577	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3810912	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3827672	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4319172	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4384054	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4388519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45623732	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4978533	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4978534	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55954029	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1035406	chr9:115883978-116003980	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540201	chr9:115883978-116003980	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv893745	chr9:115955271-116005783	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1041112	chr9:115960704-116005783	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4480181	BCHE	trans	lymphoblastoid	seeQTL
rs4480181	CDC26	cis	cerebellum	SCAN
rs4480181	ZNF483	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115920000-115973400	Strong transcription	Rectal Mucosa Donor 29	rectum
2	chr9:115920400-115973400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr9:115920800-115975000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:115923400-115976400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr9:115927600-115973400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr9:115936800-115982400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:115945400-115977200	Weak transcription	Stomach Mucosa	stomach
8	chr9:115945600-115982800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:115950400-115972800	Weak transcription	Right Ventricle	heart
10	chr9:115950600-115982400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:115950800-115982800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:115951000-115972200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:115951000-115972200	Weak transcription	Gastric	stomach
14	chr9:115951000-115972200	Weak transcription	Pancreas	Pancrea
15	chr9:115951000-115974000	Strong transcription	Placenta	Placenta
16	chr9:115951000-115982800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr9:115952200-115974400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:115952400-115973400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:115952400-115973600	Strong transcription	Adipose Nuclei	Adipose
20	chr9:115952400-115974400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:115954600-115973600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:115956000-115973400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:115956600-115972200	Weak transcription	Aorta	Aorta
24	chr9:115956600-115972200	Weak transcription	Esophagus	oesophagus
25	chr9:115957600-115972000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:115957600-115974000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr9:115957800-115974400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:115957800-115974400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr9:115958000-115974000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:115958400-115972400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr9:115959000-115973400	Strong transcription	Fetal Lung	lung
32	chr9:115960600-115973000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:115962800-115976800	Weak transcription	Small Intestine	intestine
34	chr9:115963400-115972600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr9:115963400-115973400	Strong transcription	Liver	Liver
36	chr9:115964000-115976000	Strong transcription	Fetal Brain Female	brain
37	chr9:115964000-115977000	Weak transcription	Psoas Muscle	Psoas
38	chr9:115964800-115979200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:115965200-115972000	Strong transcription	Osteobl	bone
40	chr9:115965200-115980800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:115965200-115982000	Weak transcription	Colonic Mucosa	Colon
42	chr9:115965200-115982000	Weak transcription	Fetal Brain Male	brain
43	chr9:115965200-115982200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr9:115965400-115980800	Weak transcription	Brain Angular Gyrus	brain
45	chr9:115965600-115973000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:115966600-115973400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:115966800-115973600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr9:115967000-115975200	Strong transcription	Dnd41	blood
49	chr9:115967200-115973400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr9:115967200-115974200	Strong transcription	Hela-S3	cervix

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