Variant report

Variant	rs7736312
Chromosome Location	chr5:68485991-68485992
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68484208..68487030-chr5:68662372..68666589,5	K562	blood:
2	chr5:68472735..68477267-chr5:68482092..68486946,8	MCF-7	breast:
3	chr5:68389777..68391751-chr5:68483907..68486743,2	MCF-7	breast:
4	chr5:68388464..68391397-chr5:68483791..68487195,4	K562	blood:
5	chr5:68388453..68391488-chr5:68483791..68487092,6	K562	blood:
6	chr5:68483901..68487830-chr5:68528757..68532922,9	K562	blood:
7	chr5:68485320..68486974-chr5:68663729..68665537,2	MCF-7	breast:
8	chr5:68470678..68474023-chr5:68481300..68486180,5	MCF-7	breast:
9	chr5:68484557..68486514-chr5:68663480..68665519,2	MCF-7	breast:
10	chr5:68485299..68487066-chr5:68626120..68629033,4	MCF-7	breast:
11	chr5:68461460..68464018-chr5:68483608..68486992,6	MCF-7	breast:
12	chr5:68483355..68487362-chr5:68663859..68666403,7	K562	blood:
13	chr5:68484254..68487485-chr5:68512131..68515372,4	K562	blood:
14	chr5:68485848..68487969-chr5:68530692..68532397,2	K562	blood:
15	chr5:68483023..68488056-chr5:68511952..68517380,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000085231	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000238334	Chromatin interaction
ENSG00000134058	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000183323	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10454825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515100	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10940208	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1128761	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188874	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12189395	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16875380	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271735	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271763	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17331590	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2069432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28616082	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846484	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3966728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41392244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56072942	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56667192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57047253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58176819	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58725071	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59497209	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61626775	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61699334	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61743885	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66525615	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66595384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67275234	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67548500	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67693452	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67821207	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67980996	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867050	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6890817	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767813	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767816	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767820	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767822	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767833	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72767837	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767849	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767855	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72767860	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72767861	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72767863	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72767864	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72767865	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7709090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714908	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734513	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7736312	CCDC125	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68484400-68486000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:68484400-68486000	Active TSS	NHEK	skin
3	chr5:68484400-68486200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:68484400-68486200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:68484400-68486200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr5:68484400-68486200	Active TSS	Fetal Brain Male	brain
7	chr5:68484400-68486200	Active TSS	HSMM	muscle
8	chr5:68484400-68486200	Active TSS	NHDF-Ad	bronchial
9	chr5:68484400-68486400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:68484400-68486400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr5:68484400-68486400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:68484400-68486400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:68484400-68486400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:68484400-68486400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:68484400-68486400	Active TSS	Fetal Intestine Large	intestine
16	chr5:68484400-68486400	Active TSS	Fetal Intestine Small	intestine
17	chr5:68484400-68486400	Active TSS	Fetal Kidney	kidney
18	chr5:68484400-68486600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:68484400-68486600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr5:68484400-68486600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:68484400-68486600	Active TSS	K562	blood
22	chr5:68484400-68487000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr5:68484400-68487000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr5:68484600-68486000	Active TSS	Gastric	stomach
25	chr5:68484600-68486200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr5:68484600-68486200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:68484600-68486200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:68484600-68486200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr5:68484600-68486200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr5:68484600-68486200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr5:68484600-68486200	Flanking Active TSS	Liver	Liver
32	chr5:68484600-68486200	Active TSS	Fetal Muscle Trunk	muscle
33	chr5:68484600-68486200	Active TSS	Psoas Muscle	Psoas
34	chr5:68484600-68486200	Active TSS	Right Atrium	heart
35	chr5:68484600-68486200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr5:68484600-68486400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:68484600-68486400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:68484600-68486400	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr5:68484800-68486000	Active TSS	Aorta	Aorta
40	chr5:68484800-68486000	Active TSS	Esophagus	oesophagus
41	chr5:68484800-68486000	Active TSS	Placenta Amnion	Placenta Amnion
42	chr5:68484800-68486200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:68484800-68486200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:68484800-68486200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:68484800-68486200	Active TSS	A549	lung
46	chr5:68484800-68486400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:68484800-68486400	Active TSS	GM12878-XiMat	blood
48	chr5:68485000-68486000	Active TSS	Ovary	ovary
49	chr5:68485000-68486200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:68485000-68486400	Active TSS	H1 Cell Line	embryonic stem cell

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