Variant report

Variant	rs176882
Chromosome Location	chr10:38401880-38401881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1138252	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1329786	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs176876	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176877	0.80[ASN][1000 genomes]
rs176879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs176880	0.82[ASN][1000 genomes]
rs176885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs176886	0.82[ASN][1000 genomes]
rs176887	0.82[ASN][1000 genomes]
rs176889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1813028	0.82[ASN][1000 genomes]
rs2008449	0.98[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2021649	0.81[ASN][1000 genomes]
rs2021650	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2023299	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2023351	0.80[ASN][1000 genomes]
rs2144859	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2178962	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2263162	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2263163	0.81[ASN][1000 genomes]
rs2263164	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2384731	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2472173	0.80[ASN][1000 genomes]
rs2472174	0.80[ASN][1000 genomes]
rs2472175	0.81[ASN][1000 genomes]
rs2472176	0.81[ASN][1000 genomes]
rs2472177	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2472178	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2472179	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2472181	0.81[ASN][1000 genomes]
rs2474554	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2474563	0.80[ASN][1000 genomes]
rs2474564	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2474566	0.81[ASN][1000 genomes]
rs2474567	0.81[ASN][1000 genomes]
rs2474568	0.81[ASN][1000 genomes]
rs2474569	0.81[ASN][1000 genomes]
rs2474570	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2474571	0.81[ASN][1000 genomes]
rs2474572	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2474573	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2474574	0.81[ASN][1000 genomes]
rs2474575	0.81[ASN][1000 genomes]
rs2474579	0.81[ASN][1000 genomes]
rs2474580	0.81[ASN][1000 genomes]
rs2474581	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2474591	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2474596	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2474597	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2474610	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2504120	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504121	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504127	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504139	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504140	0.81[ASN][1000 genomes]
rs2504141	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504148	0.81[ASN][1000 genomes]
rs2505179	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2505185	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2505186	0.81[ASN][1000 genomes]
rs2505187	0.81[ASN][1000 genomes]
rs2505188	0.81[ASN][1000 genomes]
rs2505190	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2505191	0.81[ASN][1000 genomes]
rs2505193	0.81[ASN][1000 genomes]
rs2505194	0.80[ASN][1000 genomes]
rs2505195	0.80[ASN][1000 genomes]
rs2505196	0.81[ASN][1000 genomes]
rs2505197	0.81[ASN][1000 genomes]
rs2505198	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2505235	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2505236	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2505244	0.94[ASN][1000 genomes]
rs2505249	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2505250	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2505251	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2505252	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2505258	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2505259	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2983343	0.81[ASN][1000 genomes]
rs6482060	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7915062	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9299760	0.80[ASN][1000 genomes]
rs932538	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9418322	0.80[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	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers 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	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS 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	26 gene(s)	inside rSNPs	diseases
7	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv550419	chr10:38311777-38501654	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv6465	chr10:38377662-38422125	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs176882	HSD17B7P2	cis	Whole Blood	GTEx
rs176882	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs176882	HSD17B7P2	cis	Esophagus Mucosa	GTEx
rs176882	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38393600-38402400	Weak transcription	HSMMtube	muscle
2	chr10:38395200-38402400	Weak transcription	NHDF-Ad	bronchial
3	chr10:38395600-38402200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:38395600-38402200	Weak transcription	HepG2	liver
5	chr10:38395600-38402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:38395600-38402400	Weak transcription	NHEK	skin
7	chr10:38395600-38403600	Weak transcription	Osteobl	bone
8	chr10:38395800-38402200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr10:38396000-38402200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:38396000-38402600	Weak transcription	HSMM	muscle
11	chr10:38396200-38402200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:38400600-38407400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr10:38400600-38416600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr10:38400800-38407600	ZNF genes & repeats	Ovary	ovary
15	chr10:38400800-38415000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:38401000-38411200	ZNF genes & repeats	Dnd41	blood
17	chr10:38401000-38411400	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr10:38401200-38411200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:38401400-38402200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr10:38401400-38402200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:38401400-38402200	Weak transcription	Liver	Liver
22	chr10:38401400-38402400	Weak transcription	Primary T cells from cord blood	blood
23	chr10:38401400-38402400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:38401400-38402400	Weak transcription	Right Ventricle	heart
25	chr10:38401400-38404200	Weak transcription	Fetal Heart	heart
26	chr10:38401600-38402800	ZNF genes & repeats	Fetal Stomach	stomach
27	chr10:38401800-38402200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:38401800-38402800	ZNF genes & repeats	Aorta	Aorta
29	chr10:38401800-38402800	ZNF genes & repeats	Gastric	stomach
30	chr10:38401800-38402800	ZNF genes & repeats	Pancreas	Pancrea
31	chr10:38401800-38407600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:38401800-38407600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr10:38401800-38407800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr10:38401800-38407800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
35	chr10:38401800-38408200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
36	chr10:38401800-38411200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:38401800-38413800	ZNF genes & repeats	Adipose Nuclei	Adipose

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