Variant report

Variant	rs4480236
Chromosome Location	chr9:94107347-94107348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10991848	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10991849	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10991853	0.92[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10991880	0.83[AMR][1000 genomes]
rs10991882	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991900	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12683737	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13289294	0.84[ASN][1000 genomes]
rs1331691	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1397575	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap]
rs16907358	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16907394	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1848984	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4628374	0.85[AFR][1000 genomes]
rs55642352	0.82[EUR][1000 genomes]
rs58307373	0.89[AFR][1000 genomes]
rs59727648	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6479337	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7019926	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7020893	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7028794	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7042178	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7849152	0.80[ASN][1000 genomes]
rs7852888	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7856089	0.91[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs7866204	0.80[ASN][1000 genomes]
rs7868771	0.91[CHB][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv893571	chr9:94072113-94202927	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4480236	ECM2	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94052000-94119200	Weak transcription	Small Intestine	intestine
2	chr9:94090600-94108400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:94090600-94109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:94093200-94122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:94097800-94121600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:94099800-94108600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:94101000-94122400	Weak transcription	HUVEC	blood vessel
8	chr9:94102000-94122400	Weak transcription	HMEC	breast
9	chr9:94102400-94119400	Weak transcription	Psoas Muscle	Psoas
10	chr9:94104400-94113600	Weak transcription	Hela-S3	cervix
11	chr9:94104400-94122800	Weak transcription	Colonic Mucosa	Colon
12	chr9:94104600-94110800	Weak transcription	GM12878-XiMat	blood
13	chr9:94104600-94113400	Weak transcription	Right Ventricle	heart
14	chr9:94104600-94113600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr9:94104600-94121200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr9:94104600-94121400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr9:94104600-94122000	Weak transcription	Gastric	stomach
18	chr9:94104800-94108800	Weak transcription	NHEK	skin
19	chr9:94104800-94109200	Weak transcription	Esophagus	oesophagus
20	chr9:94104800-94110400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:94104800-94110400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr9:94104800-94112000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:94104800-94112000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:94104800-94112000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:94104800-94112800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:94104800-94112800	Weak transcription	Fetal Intestine Small	intestine
27	chr9:94104800-94112800	Weak transcription	Pancreas	Pancrea
28	chr9:94104800-94113200	Weak transcription	Liver	Liver
29	chr9:94104800-94113200	Weak transcription	Left Ventricle	heart
30	chr9:94104800-94113400	Weak transcription	Aorta	Aorta
31	chr9:94104800-94113400	Weak transcription	Brain Angular Gyrus	brain
32	chr9:94104800-94113400	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:94104800-94113400	Weak transcription	Fetal Brain Female	brain
34	chr9:94104800-94113400	Weak transcription	Fetal Kidney	kidney
35	chr9:94104800-94113400	Weak transcription	Lung	lung
36	chr9:94104800-94113600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr9:94104800-94113600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:94104800-94113600	Weak transcription	A549	lung
39	chr9:94104800-94114000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:94104800-94116200	Weak transcription	Colon Smooth Muscle	Colon
41	chr9:94104800-94116600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:94104800-94116600	Weak transcription	HSMM	muscle
43	chr9:94104800-94117000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr9:94104800-94117000	Weak transcription	Dnd41	blood
45	chr9:94104800-94119800	Weak transcription	Ovary	ovary
46	chr9:94104800-94121200	Weak transcription	Brain Anterior Caudate	brain
47	chr9:94104800-94121400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr9:94104800-94121400	Weak transcription	Brain Substantia Nigra	brain
49	chr9:94104800-94121800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr9:94104800-94122000	Weak transcription	Spleen	Spleen

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