Variant report

Variant	rs2930945
Chromosome Location	chr5:68514703-68514704
allele	C/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68513358..68515252-chr5:68629266..68631706,2	K562	blood:
2	chr5:68471354..68475028-chr5:68512445..68515750,4	K562	blood:
3	chr5:68514007..68516074-chr5:68664468..68668135,3	K562	blood:
4	chr5:68484254..68487485-chr5:68512131..68515372,4	K562	blood:
5	chr5:68512355..68516868-chr5:68528060..68533660,10	K562	blood:
6	chr5:68461458..68463761-chr5:68512888..68515184,2	MCF-7	breast:
7	chr5:68388388..68391466-chr5:68512032..68515267,4	MCF-7	breast:
8	chr5:68514651..68516753-chr5:68670108..68672785,2	K562	blood:
9	chr5:68514182..68515689-chr5:68624413..68626099,2	MCF-7	breast:
10	chr5:68512209..68515422-chr5:68529314..68532677,7	MCF-7	breast:
11	chr5:68512355..68517480-chr5:68528060..68532261,10	K562	blood:
12	chr5:68461057..68464340-chr5:68513596..68515366,3	K562	blood:
13	chr5:68483023..68488056-chr5:68511952..68517380,10	K562	blood:
14	chr5:68514045..68514722-chr6:31627679..31628208,2	Hela-S3	cervix:
15	chr5:68388860..68391967-chr5:68513712..68515652,4	K562	blood:
16	chr5:68513382..68515686-chr5:68665012..68667135,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134058	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000238334	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000215006	Chromatin interaction
ENSG00000145740	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs100192	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs10063757	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10940209	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10940210	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10940212	0.83[ASN][1000 genomes]
rs10940216	0.83[ASN][1000 genomes]
rs11742461	0.80[ASN][1000 genomes]
rs11744596	0.85[ASN][1000 genomes]
rs11745578	0.80[ASN][1000 genomes]
rs11748974	0.90[ASN][1000 genomes]
rs12659146	0.85[ASN][1000 genomes]
rs13175606	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151589	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs163442	0.82[ASN][1000 genomes]
rs163443	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs163444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs164386	0.95[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs164388	0.82[ASN][1000 genomes]
rs164389	0.80[ASN][1000 genomes]
rs164390	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs164709	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs164715	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs164789	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1650779	0.91[ASN][1000 genomes]
rs171212	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs184747	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1976103	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2002825	0.85[ASN][1000 genomes]
rs2130757	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2171148	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2172056	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242350	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2242351	0.85[ASN][1000 genomes]
rs2291519	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2291520	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2450230	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450246	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2637128	0.84[ASN][1000 genomes]
rs2637129	0.80[ASN][1000 genomes]
rs28576332	0.80[ASN][1000 genomes]
rs28602964	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28693971	0.80[ASN][1000 genomes]
rs28768211	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2930944	0.85[ASN][1000 genomes]
rs2930946	0.85[ASN][1000 genomes]
rs2930949	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2932767	0.89[ASN][1000 genomes]
rs2932770	0.85[ASN][1000 genomes]
rs2932771	0.85[ASN][1000 genomes]
rs2932772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932774	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2932775	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932776	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932777	0.85[ASN][1000 genomes]
rs2932778	0.84[ASN][1000 genomes]
rs2932782	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972358	0.85[ASN][1000 genomes]
rs2972361	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972366	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972373	0.85[ASN][1000 genomes]
rs2972374	0.85[ASN][1000 genomes]
rs2972377	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2972378	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2972381	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972386	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972387	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972388	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972390	0.85[ASN][1000 genomes]
rs34845020	0.83[ASN][1000 genomes]
rs34893396	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34935424	0.86[ASN][1000 genomes]
rs350095	0.83[ASN][1000 genomes]
rs350099	0.82[ASN][1000 genomes]
rs350104	1.00[CEU][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs350106	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs350107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350109	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs350115	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs350116	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs350119	0.81[ASN][1000 genomes]
rs350120	0.82[ASN][1000 genomes]
rs350122	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs350123	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs350124	0.85[ASN][1000 genomes]
rs350125	0.83[ASN][1000 genomes]
rs351424	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.92[ASN][1000 genomes]
rs352626	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs35308484	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs353656	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs375285	0.82[ASN][1000 genomes]
rs376768	0.82[ASN][1000 genomes]
rs379106	0.92[ASN][1000 genomes]
rs379434	0.82[ASN][1000 genomes]
rs386640	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs389686	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs389938	0.82[ASN][1000 genomes]
rs3934528	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs395122	0.82[ASN][1000 genomes]
rs4077460	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs419902	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs426392	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4266362	0.92[ASN][1000 genomes]
rs4362903	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs437665	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4421064	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs444305	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4541612	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4629549	0.94[ASN][1000 genomes]
rs488498	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4976159	0.80[ASN][1000 genomes]
rs4976188	0.80[ASN][1000 genomes]
rs4976189	0.86[ASN][1000 genomes]
rs4976190	0.80[ASN][1000 genomes]
rs603029	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62373164	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6450026	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6450027	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6450029	0.86[ASN][1000 genomes]
rs648489	0.95[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs651076	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs676012	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs676879	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6866993	0.94[ASN][1000 genomes]
rs6873869	0.86[ASN][1000 genomes]
rs6876783	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs693725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7719040	0.82[ASN][1000 genomes]
rs7733556	0.94[ASN][1000 genomes]
rs875459	0.95[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2930945	CCDC125	cis	Muscle Skeletal	GTEx
rs2930945	GUSBP3	cis	Whole Blood	GTEx
rs2930945	CCDC125	cis	lung	GTEx
rs2930945	CCDC125	cis	Skin Sun Exposed Lower leg	GTEx
rs2930945	MRPS36	Cis_1M	lymphoblastoid	RTeQTL
rs2930945	MRPS36	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68512400-68514800	Active TSS	K562	blood
2	chr5:68512400-68515200	Active TSS	A549	lung
3	chr5:68512400-68515200	Active TSS	Hela-S3	cervix
4	chr5:68512600-68514800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:68512800-68514800	Active TSS	Colonic Mucosa	Colon
6	chr5:68512800-68515200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:68513000-68514800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:68513000-68514800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:68513000-68514800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr5:68513000-68514800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:68513000-68514800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:68513000-68514800	Active TSS	Brain Cingulate Gyrus	brain
13	chr5:68513000-68514800	Active TSS	Colon Smooth Muscle	Colon
14	chr5:68513000-68514800	Active TSS	Fetal Heart	heart
15	chr5:68513000-68514800	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr5:68513000-68515000	Active TSS	Psoas Muscle	Psoas
17	chr5:68513000-68515200	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr5:68513000-68515200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr5:68513000-68515200	Active TSS	Fetal Kidney	kidney
20	chr5:68513000-68515200	Active TSS	Stomach Smooth Muscle	stomach
21	chr5:68513000-68515400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:68513200-68514800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr5:68513200-68514800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:68513200-68514800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr5:68513200-68514800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr5:68513200-68514800	Active TSS	Fetal Intestine Large	intestine
27	chr5:68513200-68514800	Active TSS	NH-A	brain
28	chr5:68513200-68514800	Active TSS	NHDF-Ad	bronchial
29	chr5:68513200-68514800	Active TSS	NHLF	lung
30	chr5:68513200-68515200	Active TSS	Right Ventricle	heart
31	chr5:68513400-68515000	Active TSS	HMEC	breast
32	chr5:68513600-68515200	Active TSS	Left Ventricle	heart
33	chr5:68514000-68514800	Active TSS	HepG2	liver
34	chr5:68514000-68515400	Active TSS	Right Atrium	heart
35	chr5:68514200-68514800	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr5:68514200-68514800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:68514200-68514800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:68514200-68514800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr5:68514200-68514800	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr5:68514200-68515000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:68514200-68515200	Flanking Active TSS	Dnd41	blood
42	chr5:68514200-68530200	Weak transcription	Small Intestine	intestine
43	chr5:68514200-68530200	Weak transcription	Spleen	Spleen
44	chr5:68514400-68514800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr5:68514400-68514800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:68514400-68514800	Flanking Active TSS	Liver	Liver
47	chr5:68514400-68514800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr5:68514400-68515000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:68514400-68515000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:68514400-68515000	Flanking Active TSS	Primary T cells from cord blood	blood

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