Variant report

Variant	rs7178030
Chromosome Location	chr15:57218850-57218851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12324092	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12901355	0.82[ASN][1000 genomes]
rs28616268	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28639536	1.00[ASN][1000 genomes]
rs28756149	0.80[EUR][1000 genomes]
rs28814080	0.84[EUR][1000 genomes]
rs67149912	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7164655	0.80[EUR][1000 genomes]
rs8040708	0.84[AFR][1000 genomes];0.85[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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
4	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7178030	LOC283663	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57212400-57219000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:57212400-57222000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:57212400-57224800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:57212400-57224800	Weak transcription	Spleen	Spleen
5	chr15:57212400-57230400	Weak transcription	Lung	lung
6	chr15:57212400-57233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:57212400-57256000	Weak transcription	Pancreas	Pancrea
8	chr15:57212600-57224000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr15:57212600-57241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:57212800-57219200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:57212800-57220200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr15:57212800-57220600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:57212800-57222200	Weak transcription	Left Ventricle	heart
14	chr15:57212800-57222200	Weak transcription	Psoas Muscle	Psoas
15	chr15:57212800-57222200	Weak transcription	Right Ventricle	heart
16	chr15:57212800-57222400	Weak transcription	Ovary	ovary
17	chr15:57212800-57224000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:57212800-57227200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr15:57213000-57219400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:57213000-57220800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:57213000-57222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:57213000-57222400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:57213000-57227400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:57213200-57221000	Weak transcription	Adipose Nuclei	Adipose
25	chr15:57213200-57221200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:57213200-57223400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr15:57213200-57256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:57213400-57219000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:57213400-57219000	Weak transcription	HSMMtube	muscle
30	chr15:57213400-57220200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:57213400-57220200	Weak transcription	NHEK	skin
32	chr15:57213400-57223200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:57213400-57226800	Weak transcription	Brain Germinal Matrix	brain
34	chr15:57213600-57219000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:57214000-57219400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:57214200-57220800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:57214400-57219200	Strong transcription	NH-A	brain
38	chr15:57214400-57223200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:57214600-57221000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr15:57214800-57222200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:57215000-57220200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr15:57215600-57219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr15:57215600-57219400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr15:57215600-57221200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:57215600-57222600	Strong transcription	Primary B cells from cord blood	blood
46	chr15:57215600-57227400	Weak transcription	Fetal Brain Female	brain
47	chr15:57216000-57219000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:57216000-57219200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:57216000-57219800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:57216000-57220000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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