Variant report

Variant	rs34737578
Chromosome Location	chr14:31851282-31851283
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10147938	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12882949	0.83[EUR][1000 genomes]
rs12886167	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12886725	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12892246	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12895352	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17577629	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660791	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17660955	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181420	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182252	0.87[EUR][1000 genomes]
rs2182253	0.88[EUR][1000 genomes]
rs34159200	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34777795	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35330064	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35335466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35474202	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35628255	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35952505	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736917	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981832	1.00[ASN][1000 genomes]
rs4981841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61994183	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61995529	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61995554	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61996784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs727671	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927704	0.82[EUR][1000 genomes];1.00[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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34737578	RP11-176H8.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
4	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
5	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
7	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
10	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:31803800-31852200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:31805600-31851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:31811800-31854600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:31812200-31857400	Weak transcription	Fetal Heart	heart
17	chr14:31812800-31852400	Weak transcription	Brain Angular Gyrus	brain
18	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:31825600-31872800	Weak transcription	Fetal Kidney	kidney
21	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
22	chr14:31825800-31860200	Weak transcription	Psoas Muscle	Psoas
23	chr14:31827400-31874400	Weak transcription	Spleen	Spleen
24	chr14:31828000-31866800	Weak transcription	Colonic Mucosa	Colon
25	chr14:31828200-31852600	Weak transcription	Fetal Brain Female	brain
26	chr14:31830600-31862000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:31833800-31854400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:31837000-31853800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:31837000-31858400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:31837200-31852800	Strong transcription	Placenta	Placenta
31	chr14:31837200-31871800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:31838000-31852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:31838000-31857200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:31838000-31875000	Weak transcription	K562	blood
35	chr14:31838600-31852600	Weak transcription	Brain Substantia Nigra	brain
36	chr14:31839000-31862400	Weak transcription	Ovary	ovary
37	chr14:31841000-31856000	Strong transcription	Fetal Intestine Large	intestine
38	chr14:31841400-31864800	Weak transcription	NHEK	skin
39	chr14:31841400-31872800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr14:31841600-31853400	Weak transcription	Primary T cells from cord blood	blood
41	chr14:31841600-31872200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr14:31842000-31855800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:31842400-31852000	Weak transcription	Brain Anterior Caudate	brain
44	chr14:31842600-31852200	Weak transcription	NH-A	brain
45	chr14:31842800-31852600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr14:31843200-31852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:31843600-31858200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:31844000-31862600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr14:31844200-31853800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:31844200-31865200	Weak transcription	Right Ventricle	heart

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