Variant report

Variant	rs11983745
Chromosome Location	chr7:100223678-100223679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100222720..100225673-chr7:100269427..100271412,2	K562	blood:
2	chr7:100218740..100221055-chr7:100222082..100224526,2	MCF-7	breast:
3	chr7:100222173..100224759-chr7:100289298..100291069,2	K562	blood:
4	chr7:100223053..100226003-chr7:100238727..100241235,2	MCF-7	breast:
5	chr7:100218530..100221073-chr7:100222158..100224268,4	K562	blood:
6	chr7:100026392..100028635-chr7:100223018..100224668,2	K562	blood:
7	chr7:100223306..100225539-chr7:100484655..100487462,2	K562	blood:
8	chr7:100222720..100224593-chr7:100269427..100272518,3	K562	blood:
9	chr7:100222214..100224387-chr7:100228865..100231082,2	MCF-7	breast:
10	chr7:100219987..100221784-chr7:100222559..100224776,2	MCF-7	breast:
11	chr7:100222704..100226086-chr7:100226785..100232803,8	K562	blood:
12	chr7:100136559..100139163-chr7:100222887..100224512,2	K562	blood:
13	chr7:99997827..99999817-chr7:100222827..100224478,2	K562	blood:
14	chr7:100206101..100213131-chr7:100214394..100226559,23	K562	blood:
15	chr7:100223251..100225945-chr7:100423491..100425881,2	MCF-7	breast:
16	chr7:100200117..100203442-chr7:100221626..100226597,4	MCF-7	breast:
17	chr7:100163827..100165501-chr7:100222717..100224792,2	MCF-7	breast:
18	chr7:100222759..100227059-chr7:100284156..100289115,6	K562	blood:
19	chr7:100223165..100224915-chr7:100448538..100450754,2	MCF-7	breast:
20	chr7:100201989..100203946-chr7:100222676..100224777,3	K562	blood:
21	chr7:100222858..100232262-chr7:100269297..100275934,19	MCF-7	breast:
22	chr7:100181407..100183419-chr7:100221054..100223989,2	MCF-7	breast:
23	chr7:100217471..100219602-chr7:100221708..100224435,2	MCF-7	breast:
24	chr7:100222759..100224317-chr7:100285216..100287652,2	K562	blood:
25	chr7:100221068..100223919-chr7:100274439..100277150,2	MCF-7	breast:
26	chr7:100223129..100225922-chr7:100280230..100283135,2	MCF-7	breast:
27	chr7:100222479..100225299-chr7:100269623..100272327,3	MCF-7	breast:
28	chr7:100223071..100228603-chr7:100236890..100242224,6	K562	blood:
29	chr7:100222996..100226349-chr7:100227974..100233612,12	MCF-7	breast:
30	chr7:100209281..100214029-chr7:100217234..100224358,8	MCF-7	breast:
31	chr7:100208130..100210288-chr7:100223518..100226835,3	MCF-7	breast:
32	chr7:100221959..100226920-chr7:100226941..100232803,10	K562	blood:
33	chr7:100222968..100224588-chr7:100271831..100273350,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106333	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10487157	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10953298	0.89[ASN][1000 genomes]
rs11764045	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11766643	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767547	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770389	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770534	0.86[AMR][1000 genomes]
rs11772667	0.83[AMR][1000 genomes]
rs12532878	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13227444	0.92[EUR][1000 genomes]
rs2075674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2231172	0.87[AMR][1000 genomes]
rs28584500	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41303510	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4729601	0.91[AMR][1000 genomes]
rs62482237	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62482238	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62482239	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62482242	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6958696	0.94[AMR][1000 genomes]
rs6969584	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6969697	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73156234	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73407376	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7457024	0.89[ASN][1000 genomes]
rs7786877	0.87[ASN][1000 genomes]
rs7812123	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7812235	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[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	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
3	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
4	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers 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	83 gene(s)	inside rSNPs	diseases
7	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv888790	chr7:100200674-100232387	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
9	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11983745	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100210600-100224400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:100211000-100223800	Weak transcription	Fetal Kidney	kidney
3	chr7:100211000-100224600	Weak transcription	Small Intestine	intestine
4	chr7:100211200-100223800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:100211200-100224000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:100211200-100224000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:100211200-100224000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:100211200-100224000	Weak transcription	Brain Angular Gyrus	brain
9	chr7:100211200-100224000	Weak transcription	Lung	lung
10	chr7:100211200-100224000	Weak transcription	Psoas Muscle	Psoas
11	chr7:100211200-100224000	Weak transcription	Right Ventricle	heart
12	chr7:100211200-100224400	Weak transcription	Left Ventricle	heart
13	chr7:100211400-100223800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:100211400-100224000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:100211400-100224000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:100211400-100224000	Weak transcription	Brain Substantia Nigra	brain
17	chr7:100211400-100224000	Weak transcription	Colonic Mucosa	Colon
18	chr7:100211400-100224000	Weak transcription	HSMM	muscle
19	chr7:100211400-100224000	Weak transcription	HUVEC	blood vessel
20	chr7:100211400-100224600	Weak transcription	Spleen	Spleen
21	chr7:100211400-100230400	Weak transcription	Pancreas	Pancrea
22	chr7:100211800-100223800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:100211800-100223800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:100211800-100224000	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:100212000-100223800	Weak transcription	Fetal Brain Male	brain
26	chr7:100212200-100223800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:100212200-100223800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:100212200-100223800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:100212200-100224000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:100212600-100224400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:100212800-100224000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:100212800-100224000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:100213400-100223800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:100213600-100223800	Weak transcription	Fetal Lung	lung
35	chr7:100214600-100224000	Weak transcription	Gastric	stomach
36	chr7:100218800-100224000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:100219600-100223800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:100219800-100223800	Weak transcription	Brain Anterior Caudate	brain
39	chr7:100220000-100224000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:100220000-100224000	Weak transcription	Brain Germinal Matrix	brain
41	chr7:100220200-100223800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:100220200-100223800	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:100220200-100223800	Weak transcription	Fetal Stomach	stomach
44	chr7:100220200-100224000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:100220200-100224000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:100220200-100224000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:100220200-100224000	Weak transcription	Fetal Intestine Small	intestine
48	chr7:100220200-100224000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:100220200-100224000	Weak transcription	Ovary	ovary
50	chr7:100220400-100224000	Weak transcription	Fetal Brain Female	brain

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