Variant report

Variant	rs2932782
Chromosome Location	chr5:68534314-68534315
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68534182..68537947-chr5:68660840..68664102,4	K562	blood:
2	chr5:68533315..68535936-chr5:68536358..68538976,2	K562	blood:
3	chr5:68528908..68532551-chr5:68533389..68536013,4	MCF-7	breast:
4	chr5:68511993..68513624-chr5:68533582..68536463,2	MCF-7	breast:
5	chr5:68530055..68532156-chr5:68533925..68536230,3	K562	blood:
6	chr5:68529704..68533341-chr5:68533925..68536755,6	K562	blood:

Variant related genes	Relation type
ENSG00000134058	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000134056	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10063757	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10940209	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10940210	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10940212	0.81[ASN][1000 genomes]
rs10940216	0.81[ASN][1000 genomes]
rs11744596	0.80[ASN][1000 genomes]
rs11748974	0.89[ASN][1000 genomes]
rs12659146	0.80[ASN][1000 genomes]
rs13175606	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151589	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs163444	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs164709	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs164715	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs164789	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1650779	0.87[ASN][1000 genomes]
rs171212	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs184747	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1976103	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2002825	0.80[ASN][1000 genomes]
rs2130757	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2171148	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2172056	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242350	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2242351	0.80[ASN][1000 genomes]
rs2291519	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291520	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450230	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2450246	0.85[ASN][1000 genomes]
rs28602964	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28768211	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2930944	0.80[ASN][1000 genomes]
rs2930945	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930946	0.80[ASN][1000 genomes]
rs2930949	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930951	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932767	0.85[ASN][1000 genomes]
rs2932770	0.80[ASN][1000 genomes]
rs2932771	0.80[ASN][1000 genomes]
rs2932772	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932773	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932774	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2932775	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932776	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932777	0.80[ASN][1000 genomes]
rs2932778	0.81[ASN][1000 genomes]
rs2932780	0.84[ASN][1000 genomes]
rs2932783	0.85[ASN][1000 genomes]
rs2972358	0.80[ASN][1000 genomes]
rs2972361	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972366	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972373	0.80[ASN][1000 genomes]
rs2972374	0.80[ASN][1000 genomes]
rs2972377	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2972378	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2972381	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972386	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972387	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972388	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972390	0.80[ASN][1000 genomes]
rs34893396	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34935424	0.85[ASN][1000 genomes]
rs350104	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs350106	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs350107	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350109	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs350115	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350116	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs350122	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs350123	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs350124	0.80[ASN][1000 genomes]
rs351424	0.88[ASN][1000 genomes]
rs35308484	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs353656	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs379106	0.88[ASN][1000 genomes]
rs386640	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3934528	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4077460	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs419902	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs426392	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4266362	0.90[ASN][1000 genomes]
rs4362903	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4421064	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4541612	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4629549	0.92[ASN][1000 genomes]
rs488498	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4976189	0.84[ASN][1000 genomes]
rs603029	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62373164	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6450026	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6450027	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6450029	0.85[ASN][1000 genomes]
rs651076	0.86[ASN][1000 genomes]
rs676012	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs676879	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6862253	0.83[ASN][1000 genomes]
rs6866993	0.92[ASN][1000 genomes]
rs6873869	0.85[ASN][1000 genomes]
rs6876783	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs693725	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7733556	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1795469	chr5:68534233-68565285	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2932782	MRPS36	Cis_1M	lymphoblastoid	RTeQTL
rs2932782	GUSBP3	cis	Whole Blood	GTEx
rs2932782	CCDC125	cis	Muscle Skeletal	GTEx
rs2932782	CCDC125	cis	lung	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68531200-68584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68531400-68537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:68531400-68605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:68531600-68554600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:68531800-68534400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:68531800-68534600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:68531800-68534600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:68531800-68534800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:68531800-68535800	Weak transcription	Right Ventricle	heart
10	chr5:68531800-68538800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:68531800-68545800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:68531800-68552200	Weak transcription	Colonic Mucosa	Colon
13	chr5:68531800-68552200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:68531800-68554600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:68531800-68556000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:68531800-68556800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:68532000-68534600	Weak transcription	Small Intestine	intestine
18	chr5:68532000-68535000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:68532200-68551400	Weak transcription	Psoas Muscle	Psoas
20	chr5:68532200-68553400	Weak transcription	Fetal Heart	heart
21	chr5:68532400-68534400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr5:68532400-68534800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:68532400-68535000	Enhancers	HMEC	breast
24	chr5:68532400-68535800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:68532400-68536800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:68532400-68537000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:68532400-68537200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:68532400-68539600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:68532400-68551600	Weak transcription	Ovary	ovary
30	chr5:68532400-68558600	Weak transcription	Brain Substantia Nigra	brain
31	chr5:68532400-68558800	Weak transcription	Brain Angular Gyrus	brain
32	chr5:68532400-68563600	Weak transcription	Fetal Brain Male	brain
33	chr5:68532400-68574600	Weak transcription	Spleen	Spleen
34	chr5:68532600-68536000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:68532600-68537000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:68532800-68534400	Genic enhancers	Gastric	stomach
37	chr5:68532800-68534400	Genic enhancers	K562	blood
38	chr5:68532800-68535400	Strong transcription	Fetal Stomach	stomach
39	chr5:68532800-68540800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:68533000-68534400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:68533000-68534400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr5:68533000-68534400	Genic enhancers	Lung	lung
43	chr5:68533000-68534400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
44	chr5:68533000-68534600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:68533000-68534800	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr5:68533000-68535200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr5:68533000-68535600	Strong transcription	Fetal Kidney	kidney
48	chr5:68533000-68536000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:68533000-68537000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:68533000-68537000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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