Variant report

Variant	rs62007687
Chromosome Location	chr14:103903763-103903764
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103901716..103904340-chr14:103911430..103913967,3	MCF-7	breast:
2	chr14:103895493..103899508-chr14:103901558..103904332,4	K562	blood:
3	chr14:103902234..103904874-chr14:103907448..103909098,2	K562	blood:

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10133035	0.80[EUR][1000 genomes]
rs10134580	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1013650	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139279	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141120	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141388	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141433	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10143247	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10145793	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10150072	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1028613	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11621510	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11622356	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11623869	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624367	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626483	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11628213	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628969	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12879085	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12888077	0.89[EUR][1000 genomes]
rs12889639	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12890750	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12898029	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17617941	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17679475	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1951392	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1961600	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1989565	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2010281	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2273699	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2273700	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273703	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2403180	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28361338	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28369539	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28444993	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28496120	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28583452	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28626081	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34216351	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3742458	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3783394	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783395	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3783402	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3825566	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4900572	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906321	0.89[EUR][1000 genomes]
rs55859054	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56365443	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62006268	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62006272	0.82[AFR][1000 genomes]
rs62007681	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62007683	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62007684	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62007686	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62007718	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007719	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6575983	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6575984	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7140564	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7145113	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146506	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7150317	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7152202	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154246	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7155014	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7156150	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7158144	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158822	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160208	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7160366	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72708854	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72708874	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72708893	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72710714	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8013101	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8015918	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8019578	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9671911	0.84[EUR][1000 genomes];0.83[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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62007687	BAG5	cis	multi-tissue	Pritchard
rs62007687	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs62007687	MARK3	cis	Thyroid	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
3	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
5	chr14:103889400-103917800	Weak transcription	Gastric	stomach
6	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:103890200-103905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:103890200-103914200	Weak transcription	Lung	lung
9	chr14:103891000-103904000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:103893000-103904600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:103893200-103905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:103894400-103911400	Weak transcription	Pancreas	Pancrea
13	chr14:103894400-103911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:103894600-103904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:103894600-103908200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:103894600-103911400	Weak transcription	Brain Angular Gyrus	brain
17	chr14:103894600-103911600	Weak transcription	Fetal Brain Female	brain
18	chr14:103894600-103922400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:103894600-103927400	Weak transcription	Hela-S3	cervix
20	chr14:103895400-103905400	Weak transcription	Fetal Lung	lung
21	chr14:103895600-103905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:103895600-103905000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:103895600-103911400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:103895800-103904000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:103895800-103911200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:103895800-103911200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:103895800-103917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:103896000-103906000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:103896000-103909800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:103896000-103911200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:103896000-103911400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr14:103896000-103911400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:103896000-103911400	Weak transcription	Ovary	ovary
34	chr14:103896000-103916600	Weak transcription	Small Intestine	intestine
35	chr14:103896000-103922400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:103896000-103922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:103896200-103909800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:103896200-103911400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:103896400-103917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:103897400-103911200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:103897600-103903800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:103899400-103911400	Weak transcription	Brain Anterior Caudate	brain
44	chr14:103900400-103904000	Enhancers	Psoas Muscle	Psoas
45	chr14:103900800-103918600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr14:103901000-103903800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:103901000-103903800	Weak transcription	Liver	Liver
48	chr14:103901000-103903800	Weak transcription	HepG2	liver
49	chr14:103901000-103904000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:103901000-103904400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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