Variant report

Variant	rs8177943
Chromosome Location	chr16:81117001-81117002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81038477..81040518-chr16:81113269..81117145,3	K562	blood:
2	chr16:81116747..81118686-chr16:81121475..81123225,2	K562	blood:
3	chr16:81109770..81112596-chr16:81113269..81117214,4	MCF-7	breast:
4	chr16:81115837..81117443-chr16:81124518..81126684,3	K562	blood:

Variant related genes	Relation type
ENSG00000245059	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1035541	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10459871	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10459872	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1048194	0.80[EUR][1000 genomes]
rs1050364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514512	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10514513	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10514514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11537	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12443549	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12444137	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12444747	0.80[EUR][1000 genomes]
rs12444969	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12445303	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12448806	0.86[EUR][1000 genomes]
rs12456	0.82[EUR][1000 genomes]
rs12598621	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1410	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1412	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563072	0.88[EUR][1000 genomes]
rs1563075	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1563077	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16954572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954582	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814543	0.85[EUR][1000 genomes]
rs1965237	0.95[ASN][1000 genomes]
rs2278022	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278024	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287995	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2316730	0.86[EUR][1000 genomes]
rs2316731	0.91[EUR][1000 genomes]
rs2317085	0.94[EUR][1000 genomes]
rs2317086	0.92[EUR][1000 genomes]
rs2317087	0.86[EUR][1000 genomes]
rs2549891	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28391685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28613188	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28672349	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35096487	0.81[AMR][1000 genomes]
rs4306521	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324143	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4454990	0.94[EUR][1000 genomes]
rs4889225	0.89[EUR][1000 genomes]
rs4889227	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4889229	0.89[EUR][1000 genomes]
rs4889230	0.89[EUR][1000 genomes]
rs4889231	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889235	0.81[EUR][1000 genomes]
rs55939311	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56032321	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56119129	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56166222	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56198248	0.91[EUR][1000 genomes]
rs56286107	0.89[EUR][1000 genomes]
rs56395947	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57606521	0.80[EUR][1000 genomes]
rs58144189	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59177227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59685942	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61082942	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7185637	0.87[EUR][1000 genomes]
rs7188508	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203546	0.89[EUR][1000 genomes]
rs7204040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7206814	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73597252	0.88[EUR][1000 genomes]
rs754429	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs804889	0.93[ASN][1000 genomes]
rs804895	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs804897	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs804902	0.89[EUR][1000 genomes]
rs8052415	0.81[EUR][1000 genomes]
rs8052490	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056972	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8059692	0.88[EUR][1000 genomes]
rs8177851	0.85[EUR][1000 genomes]
rs8177876	0.88[EUR][1000 genomes]
rs8177939	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8177940	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177942	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8177945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177948	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177950	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177959	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874437	0.88[EUR][1000 genomes]
rs935942	0.89[EUR][1000 genomes]
rs9806918	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9923732	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9925940	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9925943	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9926174	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9929586	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9933184	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9938965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
6	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv978006	chr16:81115953-81121318	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8177943	GCSH	cis	Muscle Skeletal	GTEx
rs8177943	ATMIN	cis	Muscle Skeletal	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81111400-81117200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:81111400-81122400	Weak transcription	Lung	lung
3	chr16:81111400-81122600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:81111400-81122800	Weak transcription	Ovary	ovary
5	chr16:81111400-81128200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr16:81111400-81128400	Weak transcription	Aorta	Aorta
7	chr16:81111400-81128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:81111400-81128800	Weak transcription	Psoas Muscle	Psoas
9	chr16:81111400-81128800	Weak transcription	NHDF-Ad	bronchial
10	chr16:81111400-81129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:81111400-81129000	Weak transcription	Gastric	stomach
12	chr16:81111400-81129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr16:81111600-81117200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:81111600-81117400	Weak transcription	Spleen	Spleen
15	chr16:81111600-81117600	Weak transcription	Fetal Intestine Small	intestine
16	chr16:81111600-81119200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:81111600-81120200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:81111600-81120800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr16:81111600-81122000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:81111600-81122200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:81111600-81122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:81111600-81122400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:81111600-81122400	Weak transcription	Fetal Intestine Large	intestine
24	chr16:81111600-81122400	Weak transcription	NHEK	skin
25	chr16:81111600-81122800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr16:81111600-81122800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:81111600-81123000	Weak transcription	Primary T cells from cord blood	blood
28	chr16:81111600-81123000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr16:81111600-81123000	Weak transcription	HMEC	breast
30	chr16:81111600-81123200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr16:81111600-81123200	Weak transcription	Placenta	Placenta
32	chr16:81111600-81125600	Weak transcription	GM12878-XiMat	blood
33	chr16:81111600-81127800	Weak transcription	Brain Substantia Nigra	brain
34	chr16:81111600-81128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr16:81111600-81128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:81111600-81128200	Weak transcription	Brain Hippocampus Middle	brain
37	chr16:81111600-81128200	Weak transcription	NH-A	brain
38	chr16:81111600-81128400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:81111600-81128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:81111600-81128400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:81111600-81128400	Weak transcription	Brain Anterior Caudate	brain
42	chr16:81111600-81128400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:81111600-81128400	Weak transcription	HSMM	muscle
44	chr16:81111600-81128600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr16:81111600-81128600	Weak transcription	Fetal Kidney	kidney
46	chr16:81111600-81128600	Weak transcription	Pancreas	Pancrea
47	chr16:81111600-81128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr16:81111600-81128800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:81111600-81128800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr16:81111600-81128800	Weak transcription	Primary T cells fromperipheralblood	blood

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