Variant report

Variant	rs2930949
Chromosome Location	chr5:68531693-68531694
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68483901..68487830-chr5:68528757..68532922,9	K562	blood:
2	chr5:68512355..68516868-chr5:68528060..68533660,10	K562	blood:
3	chr5:68529171..68532388-chr5:68663415..68666737,3	K562	blood:
4	chr5:68512355..68517480-chr5:68528060..68532261,10	K562	blood:
5	chr5:68530945..68532461-chr5:68661059..68663307,2	K562	blood:
6	chr5:68512209..68515422-chr5:68529314..68532677,7	MCF-7	breast:
7	chr5:68530475..68532147-chr5:89705204..89707833,2	MCF-7	breast:
8	chr5:68529975..68532202-chr5:68627120..68629377,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183323	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000255647	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs100192	0.91[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap]
rs10063757	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10940209	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10940210	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10940212	0.82[ASN][1000 genomes]
rs10940216	0.82[ASN][1000 genomes]
rs11744596	0.81[ASN][1000 genomes]
rs11748974	0.89[ASN][1000 genomes]
rs12659146	0.81[ASN][1000 genomes]
rs13175606	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151589	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs163443	0.91[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs163444	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs164386	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs164390	0.91[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap]
rs164709	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs164715	0.91[AMR][1000 genomes];0.93[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];0.85[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];0.92[EUR][1000 genomes]
rs2002825	0.81[ASN][1000 genomes]
rs2130757	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171148	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172056	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242350	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2242351	0.81[ASN][1000 genomes]
rs2291519	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291520	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450230	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2450246	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2637128	0.80[ASN][1000 genomes]
rs28602964	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28768211	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2930944	0.81[ASN][1000 genomes]
rs2930945	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930946	0.81[ASN][1000 genomes]
rs2930951	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932767	0.85[ASN][1000 genomes]
rs2932770	0.81[ASN][1000 genomes]
rs2932771	0.81[ASN][1000 genomes]
rs2932772	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932773	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932774	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2932775	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932776	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932777	0.81[ASN][1000 genomes]
rs2932778	0.82[ASN][1000 genomes]
rs2932780	0.85[ASN][1000 genomes]
rs2932782	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2932783	0.85[ASN][1000 genomes]
rs2972358	0.81[ASN][1000 genomes]
rs2972361	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972366	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972373	0.81[ASN][1000 genomes]
rs2972374	0.81[ASN][1000 genomes]
rs2972377	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2972378	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2972381	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972386	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972387	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972388	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972390	0.81[ASN][1000 genomes]
rs34893396	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34935424	0.85[ASN][1000 genomes]
rs350104	0.93[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs350106	0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs350107	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350109	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs350115	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350116	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs350122	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs350123	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs350124	0.81[ASN][1000 genomes]
rs351424	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.89[ASN][1000 genomes]
rs352626	0.91[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap]
rs35308484	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs353656	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs379106	0.89[ASN][1000 genomes]
rs386640	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs389686	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs3934528	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4077460	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[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];0.90[EUR][1000 genomes]
rs4266362	0.91[ASN][1000 genomes]
rs4362903	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs437665	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs4421064	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs444305	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4541612	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4629549	0.92[ASN][1000 genomes]
rs488498	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4976188	0.80[ASN][1000 genomes]
rs4976189	0.85[ASN][1000 genomes]
rs603029	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62373164	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6450026	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6450027	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6450029	0.85[ASN][1000 genomes]
rs648489	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs651076	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs676012	1.00[CEU][hapmap];0.84[GIH][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs676879	0.97[AMR][1000 genomes];0.96[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	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs693725	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7733556	0.92[ASN][1000 genomes]
rs875459	0.91[CHB][hapmap];0.84[JPT][hapmap]

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
rs2930949	CCDC125	cis	Skin Sun Exposed Lower leg	GTEx
rs2930949	GUSBP3	cis	Whole Blood	GTEx
rs2930949	CCDC125	cis	lung	GTEx
rs2930949	CCDC125	cis	Muscle Skeletal	GTEx
rs2930949	MRPS36	cis	lymphoblastoid	seeQTL
rs2930949	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68529800-68532000	Active TSS	A549	lung
2	chr5:68529800-68533000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:68530000-68531800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:68530000-68531800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr5:68530000-68531800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:68530000-68531800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:68530000-68532200	Active TSS	Psoas Muscle	Psoas
8	chr5:68530000-68532400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:68530000-68532600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:68530200-68531800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:68530200-68531800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:68530200-68531800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr5:68530200-68531800	Active TSS	Fetal Intestine Small	intestine
14	chr5:68530200-68531800	Active TSS	Right Atrium	heart
15	chr5:68530200-68531800	Active TSS	Stomach Mucosa	stomach
16	chr5:68530200-68531800	Active TSS	HSMMtube	muscle
17	chr5:68530200-68532000	Active TSS	HMEC	breast
18	chr5:68530200-68532200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:68530200-68532200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:68530200-68532200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:68530200-68532200	Active TSS	Fetal Kidney	kidney
22	chr5:68530200-68532200	Active TSS	GM12878-XiMat	blood
23	chr5:68530200-68532200	Active TSS	NHDF-Ad	bronchial
24	chr5:68530200-68532200	Active TSS	NHLF	lung
25	chr5:68530200-68532400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:68530200-68532400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr5:68530200-68532400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr5:68530200-68532400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr5:68530200-68532400	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr5:68530200-68532400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:68530200-68532400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr5:68530200-68532800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:68530400-68531800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr5:68530400-68531800	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr5:68530400-68531800	Active TSS	Fetal Intestine Large	intestine
36	chr5:68530400-68531800	Active TSS	Placenta	Placenta
37	chr5:68530400-68531800	Bivalent/Poised TSS	HepG2	liver
38	chr5:68530400-68532000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:68530400-68532000	Active TSS	NH-A	brain
40	chr5:68530400-68532000	Active TSS	NHEK	skin
41	chr5:68530400-68532200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:68530800-68531800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr5:68531000-68531800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:68531000-68531800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr5:68531000-68531800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr5:68531000-68531800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:68531000-68531800	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr5:68531000-68532200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:68531200-68531800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:68531200-68531800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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