Variant report

Variant	rs3763913
Chromosome Location	chr11:8951230-8951231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8940894..8943078-chr11:8949203..8951550,2	K562	blood:
2	chr11:8940894..8943173-chr11:8949726..8951550,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10279	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10769974	0.82[YRI][hapmap]
rs10840135	0.80[MEX][hapmap]
rs10840139	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10840151	0.87[YRI][hapmap]
rs10840154	0.86[YRI][hapmap]
rs11042104	0.80[MEX][hapmap]
rs11042105	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11042106	0.85[ASW][hapmap];0.86[CEU][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11042108	0.84[CEU][hapmap];0.89[JPT][hapmap]
rs11042114	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11042115	0.86[CEU][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11042116	0.86[CEU][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11042118	0.85[CEU][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11042127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042133	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042148	0.95[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.80[ASN][1000 genomes]
rs1109304	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12049908	0.86[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12223690	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs16906256	0.80[MEX][hapmap]
rs2163626	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs2248245	0.82[EUR][1000 genomes]
rs2316521	0.80[ASN][1000 genomes]
rs2455601	0.91[JPT][hapmap];0.85[MEX][hapmap]
rs2568068	0.87[EUR][1000 genomes]
rs2568070	0.87[EUR][1000 genomes]
rs2568085	1.00[GIH][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs2568089	0.86[EUR][1000 genomes]
rs2568091	0.86[EUR][1000 genomes]
rs2568092	0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs2653569	0.87[MKK][hapmap]
rs2742484	0.82[EUR][1000 genomes]
rs2742485	0.82[EUR][1000 genomes]
rs3751063	0.87[YRI][hapmap]
rs3751064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3751066	0.82[YRI][hapmap]
rs3763911	0.87[YRI][hapmap]
rs3763912	0.87[YRI][hapmap]
rs3763914	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3815991	0.95[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.80[ASN][1000 genomes]
rs4909951	0.83[YRI][hapmap]
rs56680262	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59454329	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7104661	0.91[JPT][hapmap]
rs72632952	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7938995	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9300096	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs3763913	TMEM9B-AS1	cis	lung	GTEx
rs3763913	TMEM9B-AS1	cis	Artery Tibial	GTEx
rs3763913	NRIP3	cis	parietal	SCAN
rs3763913	TMEM9B-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs3763913	TMEM9B-AS1	cis	Heart Left Ventricle	GTEx
rs3763913	SYT9	cis	parietal	SCAN
rs3763913	TMEM9B-AS1	cis	Esophagus Muscularis	GTEx
rs3763913	TMEM9B-AS1	cis	Adipose Subcutaneous	GTEx
rs3763913	TMEM9B-AS1	cis	Nerve Tibial	GTEx
rs3763913	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs3763913	TMEM9B-AS1	cis	Esophagus Mucosa	GTEx
rs3763913	TMEM9B-AS1	cis	Stomach	GTEx
rs3763913	DNHD1	cis	cerebellum	SCAN
rs3763913	MMP26	cis	cerebellum	SCAN
rs3763913	EIF4G2	cis	cerebellum	SCAN
rs3763913	TMEM9B-AS1	cis	Thyroid	GTEx
rs3763913	ZNF143	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8934000-8952200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:8936600-8954000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:8941200-8953400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:8941200-8956200	Weak transcription	K562	blood
5	chr11:8942400-8959000	Weak transcription	Fetal Kidney	kidney
6	chr11:8943800-8969200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:8944000-8952200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:8944200-8956400	Weak transcription	HUVEC	blood vessel
9	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:8944800-8954000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:8944800-8956400	Weak transcription	Fetal Intestine Large	intestine
12	chr11:8945000-8951800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:8945000-8953600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:8945000-8953600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:8945000-8954000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:8945000-8954000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:8945000-8955000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:8945000-8956200	Weak transcription	NH-A	brain
19	chr11:8945200-8954000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:8945200-8954400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:8945200-8956200	Weak transcription	A549	lung
22	chr11:8945800-8954800	Weak transcription	Hela-S3	cervix
23	chr11:8945800-8974000	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:8946400-8956200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:8946600-8953400	Weak transcription	Fetal Intestine Small	intestine
26	chr11:8946800-8952200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:8947000-8954400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:8947000-8968800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:8947000-8977000	Weak transcription	Aorta	Aorta
30	chr11:8947200-8953800	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:8947200-8956400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:8947400-8956200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:8947400-8969000	Weak transcription	Thymus	Thymus
34	chr11:8947600-8952200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:8947600-8954200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:8947600-8956200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:8947600-8956400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:8947600-8969000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:8948000-8952200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:8948000-8955600	Weak transcription	NHLF	lung
41	chr11:8948200-8952200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:8948200-8953800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:8948200-8969000	Weak transcription	Fetal Brain Female	brain
44	chr11:8948600-8969200	Weak transcription	Gastric	stomach
45	chr11:8948600-8969200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:8949000-8951600	Weak transcription	Fetal Stomach	stomach
47	chr11:8949000-8953800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:8950000-8951400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:8950000-8951400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:8950000-8951400	Enhancers	HMEC	breast

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