Variant report

Variant	rs3763918
Chromosome Location	chr11:8819683-8819684
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8715976..8718057-chr11:8817200..8820115,2	K562	blood:
2	chr11:8811870..8814213-chr11:8819561..8821244,2	K562	blood:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10769947	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10769948	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10769955	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10769957	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10769958	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840134	0.81[CEU][hapmap]
rs10840148	0.81[CEU][hapmap]
rs11042055	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042059	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11042060	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042067	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042069	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11603841	0.84[CHB][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12224436	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12421789	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2316865	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2568061	0.81[CEU][hapmap]
rs2568065	0.81[CEU][hapmap]
rs2568090	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs3794153	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs4579928	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4929911	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4929912	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4929914	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4929916	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6484484	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6484496	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7107867	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7129667	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7944560	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7945705	0.81[CEU][hapmap]
rs905290	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs978636	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv553447	chr11:8792622-8825966	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3763918	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs3763918	TRIM66	cis	lung	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8797800-8827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:8800800-8822400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:8800800-8825800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:8800800-8827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:8801600-8820000	Weak transcription	HSMMtube	muscle
6	chr11:8801600-8827400	Weak transcription	Esophagus	oesophagus
7	chr11:8803000-8820600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:8809000-8830200	Weak transcription	Fetal Brain Male	brain
9	chr11:8809200-8826600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:8809200-8829200	Weak transcription	Fetal Kidney	kidney
11	chr11:8810600-8820600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:8811800-8827000	Weak transcription	HMEC	breast
13	chr11:8811800-8828600	Weak transcription	Hela-S3	cervix
14	chr11:8811800-8828800	Weak transcription	Aorta	Aorta
15	chr11:8811800-8830400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:8811800-8830600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:8812400-8820600	Weak transcription	Right Ventricle	heart
18	chr11:8814200-8828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:8814800-8825400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:8815000-8827800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:8815200-8826800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:8815400-8820600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:8815400-8822000	Weak transcription	HUVEC	blood vessel
24	chr11:8815600-8822600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:8815600-8825200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:8815800-8827800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:8816000-8822000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:8816400-8822200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:8816400-8822400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:8816400-8825400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:8816400-8831800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:8816600-8820400	Weak transcription	Left Ventricle	heart
33	chr11:8816600-8820600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:8816600-8820800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:8816600-8821000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:8816600-8822400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:8816600-8822400	Weak transcription	Lung	lung
38	chr11:8816600-8826600	Weak transcription	Brain Anterior Caudate	brain
39	chr11:8816600-8827400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:8816600-8828400	Weak transcription	NHDF-Ad	bronchial
41	chr11:8816600-8828800	Weak transcription	Brain Substantia Nigra	brain
42	chr11:8816600-8830000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:8816600-8830600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:8816800-8821800	Weak transcription	Colonic Mucosa	Colon
45	chr11:8816800-8821800	Weak transcription	Psoas Muscle	Psoas
46	chr11:8816800-8822000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:8816800-8825200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:8816800-8828600	Weak transcription	Small Intestine	intestine
49	chr11:8817000-8820600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:8817000-8820600	Weak transcription	Right Atrium	heart

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