Variant report

Variant	rs8131965
Chromosome Location	chr21:40575426-40575427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40574233..40577132-chr21:40589410..40591916,2	MCF-7	breast:
2	chr21:40551398..40560769-chr21:40565658..40576445,18	K562	blood:
3	21:40565363-40575691..21:40718004-40719183	GM12878	blood:
4	chr21:40573985..40575559-chr8:146226955..146229907,2	MCF-7	breast:
5	chr21:40552604..40556082-chr21:40575410..40578014,3	MCF-7	breast:
6	chr21:40574761..40577366-chr21:40579952..40583653,3	MCF-7	breast:
7	chr21:40564573..40566805-chr21:40573736..40576146,2	K562	blood:
8	chr21:40574695..40577813-chr21:40579621..40584653,4	K562	blood:
9	chr21:40572360..40573959-chr21:40574635..40576652,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205581	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000196922	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000255559	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000237373	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1041440	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10427502	0.84[AMR][1000 genomes]
rs1065242	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910151	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11911112	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11911149	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12151994	0.87[AMR][1000 genomes]
rs12481860	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12482156	0.84[EUR][1000 genomes]
rs12482181	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12482857	0.84[EUR][1000 genomes]
rs12483216	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12710453	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13047550	0.85[EUR][1000 genomes]
rs13048178	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13049280	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13052882	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339986	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13625	0.86[AMR][1000 genomes]
rs14194	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1541102	0.90[AMR][1000 genomes]
rs1571709	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1984022	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2026265	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2026267	0.80[AMR][1000 genomes]
rs2150415	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2234543	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410106	0.84[AMR][1000 genomes]
rs2735306	0.80[AMR][1000 genomes]
rs2735309	0.80[AMR][1000 genomes]
rs2776307	0.80[AMR][1000 genomes]
rs2776308	0.80[AMR][1000 genomes]
rs2776309	0.80[AMR][1000 genomes]
rs2836921	0.85[EUR][1000 genomes]
rs2836923	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2836924	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2836925	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2836927	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2836928	0.90[EUR][1000 genomes]
rs2836929	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2836932	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2836933	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836938	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836944	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836953	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2836955	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836957	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836964	0.90[AMR][1000 genomes]
rs2836965	0.93[AMR][1000 genomes]
rs2836967	0.90[AMR][1000 genomes]
rs2836968	0.87[AMR][1000 genomes]
rs2836972	0.87[AMR][1000 genomes]
rs2836973	0.89[AMR][1000 genomes]
rs2836974	0.90[AMR][1000 genomes]
rs2836977	0.86[AMR][1000 genomes]
rs34035316	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34176878	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34294410	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34394827	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34433511	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34478864	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34592564	0.85[EUR][1000 genomes]
rs34672724	0.88[AMR][1000 genomes]
rs34978594	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35064900	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35068861	0.90[AMR][1000 genomes]
rs35123057	0.80[AMR][1000 genomes]
rs35386515	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35391055	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35560196	0.88[AMR][1000 genomes]
rs35571600	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35774464	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36113648	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3945	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4817996	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55836299	0.89[AMR][1000 genomes]
rs56049536	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56306759	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6517513	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6517514	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6517519	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6517521	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6517523	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517526	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517527	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517533	0.87[AMR][1000 genomes]
rs6517538	0.90[AMR][1000 genomes]
rs68004583	0.87[AMR][1000 genomes]
rs68090597	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71184665	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7277978	0.84[AMR][1000 genomes]
rs7280375	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7282624	0.86[AMR][1000 genomes]
rs7283516	0.87[AMR][1000 genomes]
rs7283569	0.87[AMR][1000 genomes]
rs73221174	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73221193	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7354783	0.87[AMR][1000 genomes]
rs8127087	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8128026	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8128102	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8128191	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8128620	0.86[AMR][1000 genomes]
rs8128734	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128827	0.80[AMR][1000 genomes]
rs8128894	0.88[AMR][1000 genomes]
rs8129147	0.82[AMR][1000 genomes]
rs8129303	0.80[AMR][1000 genomes]
rs8129355	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8129416	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8130556	0.85[EUR][1000 genomes]
rs8130984	0.90[AMR][1000 genomes]
rs8132295	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8132333	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8132419	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8132568	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8133146	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8134733	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv3328439	chr21:40575132-40577055	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8131965	HMGN1	Cis_1M	lymphoblastoid	RTeQTL
rs8131965	PSMG1	cis	Muscle Skeletal	GTEx
rs8131965	PSMG1	cis	lung	GTEx
rs8131965	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx
rs8131965	PSMG1	cis	Artery Tibial	GTEx
rs8131965	PSMG1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40556200-40576600	Weak transcription	Esophagus	oesophagus
2	chr21:40556200-40576600	Weak transcription	Pancreas	Pancrea
3	chr21:40556200-40602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:40556600-40576600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
6	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr21:40563200-40581000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:40563600-40588600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr21:40564600-40612600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:40564800-40587800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:40565000-40581200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr21:40565000-40592600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr21:40565200-40579000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr21:40565400-40580800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:40565400-40604200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:40565400-40612600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr21:40565400-40653600	Strong transcription	Dnd41	blood
23	chr21:40565600-40585600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:40565600-40590200	Strong transcription	Liver	Liver
25	chr21:40565600-40615000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr21:40565800-40580600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr21:40565800-40581400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr21:40565800-40590600	Strong transcription	Fetal Thymus	thymus
29	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:40566200-40590600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr21:40566200-40590600	Strong transcription	Adipose Nuclei	Adipose
32	chr21:40566400-40580200	Strong transcription	K562	blood
33	chr21:40566400-40580800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr21:40566400-40613200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:40566600-40581200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr21:40567400-40585400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr21:40567400-40592400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr21:40567600-40580600	Strong transcription	GM12878-XiMat	blood
39	chr21:40567600-40581000	Strong transcription	Primary T cells from cord blood	blood
40	chr21:40567600-40581200	Strong transcription	Fetal Muscle Leg	muscle
41	chr21:40567600-40583800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:40567600-40585000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr21:40568200-40581400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr21:40568200-40584600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr21:40568400-40578800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr21:40568400-40580600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:40569000-40581600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr21:40569200-40576400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr21:40569200-40578200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr21:40569200-40580000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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