Variant report

Variant	rs7318105
Chromosome Location	chr13:95271934-95271935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16949940	0.81[CEU][hapmap]
rs16949977	1.00[ASN][1000 genomes]
rs2146822	1.00[ASN][1000 genomes]
rs2226077	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2226078	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4417425	1.00[CEU][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4516070	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59149020	1.00[ASN][1000 genomes]
rs61707735	1.00[ASN][1000 genomes]
rs61965606	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492722	1.00[CEU][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492724	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72638354	1.00[ASN][1000 genomes]
rs72638356	1.00[ASN][1000 genomes]
rs7320230	1.00[ASN][1000 genomes]
rs7329965	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329985	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73546690	1.00[ASN][1000 genomes]
rs7981150	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7984105	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989918	1.00[ASN][1000 genomes]
rs7998457	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516431	1.00[ASN][1000 genomes]
rs9516439	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9524564	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9524575	1.00[ASN][1000 genomes]
rs9524577	1.00[ASN][1000 genomes]
rs9584241	1.00[ASN][1000 genomes]
rs9584242	1.00[ASN][1000 genomes]
rs9584243	1.00[ASN][1000 genomes]
rs9590043	0.81[CEU][hapmap]
rs9590045	1.00[ASN][1000 genomes]
rs9590046	1.00[ASN][1000 genomes]
rs9590048	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7318105	GPR180	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95254600-95276600	Weak transcription	Small Intestine	intestine
2	chr13:95254600-95284000	Weak transcription	Spleen	Spleen
3	chr13:95254800-95272000	Weak transcription	Lung	lung
4	chr13:95254800-95275400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr13:95254800-95275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:95254800-95288800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:95255000-95275400	Weak transcription	Aorta	Aorta
8	chr13:95255000-95275600	Weak transcription	Right Ventricle	heart
9	chr13:95255000-95276200	Weak transcription	HSMMtube	muscle
10	chr13:95255000-95281000	Weak transcription	Colonic Mucosa	Colon
11	chr13:95255200-95272200	Weak transcription	Colon Smooth Muscle	Colon
12	chr13:95255200-95276200	Weak transcription	Fetal Brain Female	brain
13	chr13:95255200-95278200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:95255200-95282200	Weak transcription	Brain Angular Gyrus	brain
15	chr13:95255400-95288600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr13:95255600-95281800	Weak transcription	Fetal Brain Male	brain
17	chr13:95255600-95282600	Weak transcription	Fetal Heart	heart
18	chr13:95255800-95278000	Weak transcription	Hela-S3	cervix
19	chr13:95255800-95284000	Weak transcription	K562	blood
20	chr13:95255800-95285000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:95256600-95272000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr13:95259000-95275400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:95259600-95275400	Weak transcription	Primary B cells from cord blood	blood
24	chr13:95259600-95275400	Weak transcription	Brain Hippocampus Middle	brain
25	chr13:95259800-95275800	Weak transcription	Gastric	stomach
26	chr13:95259800-95276000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr13:95259800-95282000	Weak transcription	Brain Germinal Matrix	brain
28	chr13:95260000-95285800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:95261200-95272000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr13:95261800-95275400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr13:95262200-95278200	Weak transcription	Brain Substantia Nigra	brain
32	chr13:95263600-95276200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr13:95264000-95275400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:95264000-95275400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr13:95264000-95284000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr13:95264200-95275400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr13:95264200-95275400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr13:95264200-95275400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:95264200-95275400	Weak transcription	Ovary	ovary
40	chr13:95264200-95275400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr13:95264200-95280200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr13:95264200-95299600	Weak transcription	Psoas Muscle	Psoas
43	chr13:95264400-95275400	Weak transcription	Placenta	Placenta
44	chr13:95264600-95272000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:95264600-95275200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:95264600-95275400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr13:95264600-95282400	Weak transcription	Pancreas	Pancrea
48	chr13:95264600-95289200	Weak transcription	Esophagus	oesophagus
49	chr13:95264600-95289600	Weak transcription	Fetal Kidney	kidney
50	chr13:95264800-95272000	Weak transcription	Muscle Satellite Cultured Cells	--

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