Variant report

Variant	rs11718388
Chromosome Location	chr3:53076415-53076416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53060296..53062382-chr3:53075868..53077771,2	MCF-7	breast:
2	chr3:53059584..53062030-chr3:53075790..53077753,2	K562	blood:
3	chr3:53066267..53068975-chr3:53075224..53077291,2	K562	blood:
4	chr3:53074151..53077350-chr3:53077899..53081125,4	K562	blood:

Variant related genes	Relation type
ENSG00000163935	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10510761	0.89[EUR][1000 genomes]
rs11706035	0.89[EUR][1000 genomes]
rs11707575	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11707780	1.00[EUR][1000 genomes]
rs11710292	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11710394	0.89[EUR][1000 genomes]
rs11710707	0.89[EUR][1000 genomes]
rs11711773	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11712653	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713171	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713206	0.89[EUR][1000 genomes]
rs11713290	0.89[EUR][1000 genomes]
rs11713859	0.93[EUR][1000 genomes]
rs11714037	0.89[EUR][1000 genomes]
rs11714876	0.94[EUR][1000 genomes]
rs11714902	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11715231	0.84[EUR][1000 genomes]
rs11717132	0.89[EUR][1000 genomes]
rs11717619	0.89[EUR][1000 genomes]
rs11717715	0.89[EUR][1000 genomes]
rs11718538	0.87[EUR][1000 genomes]
rs11718752	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11718834	0.89[EUR][1000 genomes]
rs11720191	0.89[EUR][1000 genomes]
rs13058817	0.93[EUR][1000 genomes]
rs13069006	0.89[EUR][1000 genomes]
rs13072395	0.89[EUR][1000 genomes]
rs13072457	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13072818	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074524	0.89[EUR][1000 genomes]
rs13078834	0.89[EUR][1000 genomes]
rs13078971	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13084937	0.94[EUR][1000 genomes]
rs13085514	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13085544	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13091844	0.89[EUR][1000 genomes]
rs13092352	0.87[EUR][1000 genomes]
rs13320044	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1346719	1.00[EUR][1000 genomes]
rs17052727	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2336540	0.89[EUR][1000 genomes]
rs2336541	0.89[EUR][1000 genomes]
rs2564926	0.93[EUR][1000 genomes]
rs2564941	0.80[EUR][1000 genomes]
rs2581807	0.93[EUR][1000 genomes]
rs3097417	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34121720	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34238610	0.95[EUR][1000 genomes]
rs34244302	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34313969	0.89[EUR][1000 genomes]
rs34340609	1.00[EUR][1000 genomes]
rs34493168	0.89[EUR][1000 genomes]
rs34754279	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34872575	0.89[EUR][1000 genomes]
rs34933390	0.89[EUR][1000 genomes]
rs34943350	0.89[EUR][1000 genomes]
rs34979715	0.95[EUR][1000 genomes]
rs35076015	0.95[EUR][1000 genomes]
rs35163227	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35174175	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35230793	0.84[EUR][1000 genomes]
rs35378159	0.89[EUR][1000 genomes]
rs35384050	0.89[EUR][1000 genomes]
rs35385050	0.89[EUR][1000 genomes]
rs35507120	0.95[EUR][1000 genomes]
rs35720014	0.89[EUR][1000 genomes]
rs35737577	0.89[EUR][1000 genomes]
rs35849389	0.89[EUR][1000 genomes]
rs36090694	0.89[EUR][1000 genomes]
rs3796352	0.84[EUR][1000 genomes]
rs3806692	1.00[EUR][1000 genomes]
rs3821872	0.96[EUR][1000 genomes]
rs4478072	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58515094	0.89[EUR][1000 genomes]
rs58660500	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59583591	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60887045	0.89[EUR][1000 genomes]
rs60942590	0.89[EUR][1000 genomes]
rs61172708	0.89[EUR][1000 genomes]
rs6445555	0.91[EUR][1000 genomes]
rs6445556	0.98[EUR][1000 genomes]
rs6445557	0.98[EUR][1000 genomes]
rs71299622	0.84[EUR][1000 genomes]
rs71299700	0.81[EUR][1000 genomes]
rs71301804	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71301808	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71301809	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71301811	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71301814	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71617204	0.95[EUR][1000 genomes]
rs750474	0.98[EUR][1000 genomes]
rs7622420	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7625448	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7640293	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7645611	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9756317	0.93[EUR][1000 genomes]
rs9875573	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]

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	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1823728	chr3:53046712-53080351	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv822094	chr3:53059674-53096460	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11718388	TMEM110	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53033000-53078400	Weak transcription	Aorta	Aorta
2	chr3:53048800-53077800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:53056600-53077800	Weak transcription	Fetal Stomach	stomach
4	chr3:53062200-53076800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:53062200-53077000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:53064000-53078400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:53065400-53077600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:53065400-53078600	Weak transcription	Gastric	stomach
9	chr3:53065600-53077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:53066200-53076800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:53068000-53077600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:53068800-53077400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:53069200-53077800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:53069200-53077800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:53069800-53077600	Weak transcription	Stomach Mucosa	stomach
16	chr3:53070200-53077800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:53071000-53076800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:53071000-53078400	Weak transcription	Right Ventricle	heart
19	chr3:53071000-53078600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:53071200-53076600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:53071400-53077800	Weak transcription	Left Ventricle	heart
22	chr3:53072000-53077000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:53072800-53077800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:53073000-53077000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:53073000-53077800	Weak transcription	Fetal Brain Female	brain
26	chr3:53073200-53077800	Weak transcription	Brain Substantia Nigra	brain
27	chr3:53073200-53078400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:53073200-53078400	Weak transcription	NHLF	lung
29	chr3:53073400-53078200	Weak transcription	HSMM	muscle
30	chr3:53073800-53077800	Weak transcription	Psoas Muscle	Psoas
31	chr3:53073800-53078400	Weak transcription	Pancreas	Pancrea
32	chr3:53074000-53077400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr3:53074600-53078200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:53074600-53078200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:53074800-53076600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr3:53074800-53076800	Weak transcription	Brain Anterior Caudate	brain
37	chr3:53074800-53077000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:53074800-53077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:53074800-53077800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:53074800-53077800	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:53074800-53077800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:53074800-53077800	Weak transcription	Hela-S3	cervix
43	chr3:53074800-53078200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:53074800-53078200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr3:53074800-53078200	Weak transcription	NH-A	brain
46	chr3:53074800-53078200	Weak transcription	NHDF-Ad	bronchial
47	chr3:53074800-53078400	Weak transcription	HSMMtube	muscle
48	chr3:53075000-53077800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr3:53075000-53077800	Weak transcription	Osteobl	bone
50	chr3:53075000-53078400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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