Variant report

Variant	rs693725
Chromosome Location	chr5:68487056-68487057
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68486834..68488364-chr5:68655357..68658239,2	K562	blood:
2	chr5:68388464..68391397-chr5:68483791..68487195,4	K562	blood:
3	chr5:68388453..68391488-chr5:68483791..68487092,6	K562	blood:
4	chr5:68483901..68487830-chr5:68528757..68532922,9	K562	blood:
5	chr5:68485299..68487066-chr5:68626120..68629033,4	MCF-7	breast:
6	chr5:68483355..68487362-chr5:68663859..68666403,7	K562	blood:
7	chr5:68484254..68487485-chr5:68512131..68515372,4	K562	blood:
8	chr5:68455037..68457035-chr5:68486114..68489088,2	K562	blood:
9	chr5:68485848..68487969-chr5:68530692..68532397,2	K562	blood:
10	chr5:68483023..68488056-chr5:68511952..68517380,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000085231	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000265968	Chromatin interaction
ENSG00000183323	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000134058	Chromatin interaction
ENSG00000220986	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs100192	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10063757	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10940209	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10940210	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10940212	0.81[ASN][1000 genomes]
rs10940216	0.81[ASN][1000 genomes]
rs11744596	0.83[ASN][1000 genomes]
rs11748974	0.88[ASN][1000 genomes]
rs12659146	0.83[ASN][1000 genomes]
rs13175606	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151589	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163442	0.85[ASN][1000 genomes]
rs163443	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs163444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164386	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs164388	0.85[ASN][1000 genomes]
rs164389	0.83[ASN][1000 genomes]
rs164390	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs164709	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs164715	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164789	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1650779	0.94[ASN][1000 genomes]
rs1683831	0.82[ASN][1000 genomes]
rs171212	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs184747	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976103	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2002825	0.83[ASN][1000 genomes]
rs2130757	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2171148	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2172056	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2242350	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2242351	0.83[ASN][1000 genomes]
rs2291519	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2291520	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2450230	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2450246	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2637128	0.82[ASN][1000 genomes]
rs28506805	0.82[ASN][1000 genomes]
rs28602964	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28768211	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2930944	0.83[ASN][1000 genomes]
rs2930945	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930946	0.83[ASN][1000 genomes]
rs2930949	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2930951	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932767	0.93[ASN][1000 genomes]
rs2932770	0.83[ASN][1000 genomes]
rs2932771	0.83[ASN][1000 genomes]
rs2932772	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932773	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932774	0.84[EUR][1000 genomes]
rs2932775	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932776	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932777	0.83[ASN][1000 genomes]
rs2932778	0.82[ASN][1000 genomes]
rs2932782	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972358	0.83[ASN][1000 genomes]
rs2972361	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972366	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972373	0.83[ASN][1000 genomes]
rs2972374	0.83[ASN][1000 genomes]
rs2972377	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972378	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2972381	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972386	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972387	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972388	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972390	0.83[ASN][1000 genomes]
rs34845020	0.81[ASN][1000 genomes]
rs34893396	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34935424	0.84[ASN][1000 genomes]
rs350095	0.81[ASN][1000 genomes]
rs350099	0.85[ASN][1000 genomes]
rs350104	1.00[CEU][hapmap];0.94[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs350105	0.82[ASN][1000 genomes]
rs350106	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs350107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350109	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs350115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350116	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350119	0.84[ASN][1000 genomes]
rs350120	0.85[ASN][1000 genomes]
rs350122	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs350123	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350124	0.83[ASN][1000 genomes]
rs350125	0.81[ASN][1000 genomes]
rs351424	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[ASN][1000 genomes]
rs352626	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs35308484	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs353656	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs375285	0.85[ASN][1000 genomes]
rs376768	0.85[ASN][1000 genomes]
rs379106	0.96[ASN][1000 genomes]
rs379434	0.85[ASN][1000 genomes]
rs386640	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389686	0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs389938	0.85[ASN][1000 genomes]
rs390169	0.80[ASN][1000 genomes]
rs3934528	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs395122	0.85[ASN][1000 genomes]
rs4077460	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs419902	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426392	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4266362	0.90[ASN][1000 genomes]
rs4362903	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs437665	0.91[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4421064	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs444305	0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4541612	0.89[ASN][1000 genomes]
rs4629549	0.92[ASN][1000 genomes]
rs476125	0.82[ASN][1000 genomes]
rs488498	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4976189	0.84[ASN][1000 genomes]
rs603029	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62373164	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6450026	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6450027	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6450029	0.84[ASN][1000 genomes]
rs648489	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs651076	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs676012	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs676879	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6866993	0.92[ASN][1000 genomes]
rs6873869	0.84[ASN][1000 genomes]
rs6876783	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7719040	0.85[ASN][1000 genomes]
rs7733556	0.92[ASN][1000 genomes]
rs875459	0.95[CHB][hapmap];0.84[JPT][hapmap];0.85[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	esv3445512	chr5:68472245-68495835	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs693725	CCDC125	cis	lung	GTEx
rs693725	MRPS36	cis	multi-tissue	Pritchard
rs693725	GUSBP3	cis	Whole Blood	GTEx
rs693725	CCDC125	cis	Skin Sun Exposed Lower leg	GTEx
rs693725	CCDC125	cis	Muscle Skeletal	GTEx
rs693725	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68485800-68493800	Weak transcription	Lung	lung
2	chr5:68486000-68489800	Weak transcription	HSMMtube	muscle
3	chr5:68486000-68498200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:68486000-68498600	Weak transcription	Left Ventricle	heart
5	chr5:68486000-68505800	Weak transcription	Ovary	ovary
6	chr5:68486000-68513600	Weak transcription	Gastric	stomach
7	chr5:68486200-68487800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:68486200-68487800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:68486200-68488000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:68486200-68488600	Weak transcription	Fetal Stomach	stomach
11	chr5:68486200-68489200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:68486200-68489200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:68486200-68489200	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:68486200-68490000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:68486200-68490000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:68486200-68490000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:68486200-68490200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:68486200-68490200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:68486200-68490200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:68486200-68491200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:68486200-68492000	Weak transcription	Fetal Brain Female	brain
22	chr5:68486200-68492200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:68486200-68494200	Weak transcription	Fetal Lung	lung
24	chr5:68486200-68494400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:68486200-68494600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:68486200-68494800	Weak transcription	Brain Substantia Nigra	brain
27	chr5:68486200-68496200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:68486200-68496200	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:68486200-68497000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:68486200-68497600	Weak transcription	Fetal Heart	heart
31	chr5:68486200-68497600	Weak transcription	Pancreas	Pancrea
32	chr5:68486200-68498200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:68486200-68498400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:68486200-68499200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:68486200-68499400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr5:68486200-68500200	Weak transcription	Thymus	Thymus
37	chr5:68486200-68502000	Weak transcription	Placenta	Placenta
38	chr5:68486200-68502200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:68486200-68502600	Weak transcription	Small Intestine	intestine
40	chr5:68486200-68505200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:68486200-68509400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:68486200-68509400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:68486200-68509400	Weak transcription	HSMM	muscle
44	chr5:68486200-68512800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr5:68486400-68487600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr5:68486400-68487600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:68486400-68487600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:68486400-68487600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:68486400-68487600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:68486400-68487600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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