Variant report

Variant	rs1989565
Chromosome Location	chr14:103862193-103862194
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103861640..103863253-chr14:103866486..103868764,3	MCF-7	breast:
2	chr14:103804940..103815889-chr14:103850459..103863829,28	K562	blood:
3	chr14:103794753..103806137-chr14:103849038..103864103,36	MCF-7	breast:
4	chr14:103797262..103804754-chr14:103849003..103864058,49	MCF-7	breast:
5	chr14:103850800..103853392-chr14:103855974..103862229,10	MCF-7	breast:
6	chr14:103860462..103863338-chr14:103864074..103867631,4	K562	blood:
7	chr14:103849131..103853013-chr14:103859929..103865676,7	MCF-7	breast:
8	chr14:103857593..103860875-chr14:103861625..103865157,4	MCF-7	breast:
9	chr14:103798491..103802781-chr14:103859089..103862321,5	K562	blood:
10	chr14:103858689..103864179-chr14:103864270..103870415,8	K562	blood:
11	chr14:103859647..103862253-chr14:103892408..103894463,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction
ENSG00000259775	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000272533	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10133035	0.82[EUR][1000 genomes]
rs10134580	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1013650	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10139279	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141120	0.96[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141388	0.96[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141433	0.86[EUR][1000 genomes]
rs10143247	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10145793	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10150072	0.85[EUR][1000 genomes]
rs1028613	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11621037	0.96[CEU][hapmap]
rs11621510	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622356	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11623869	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624367	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11626483	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11628213	0.87[EUR][1000 genomes]
rs11628969	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12879085	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888077	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12889639	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12890750	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12898029	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1467561	0.96[CEU][hapmap]
rs17617941	0.87[EUR][1000 genomes]
rs17679475	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1803283	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs1951392	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961600	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010281	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273699	1.00[CEU][hapmap]
rs2273700	0.92[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273703	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2296484	0.96[CEU][hapmap]
rs2403180	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28369539	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28444993	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28496120	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28583452	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28626081	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34216351	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742458	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759579	0.88[CEU][hapmap];0.81[ASN][1000 genomes]
rs3783394	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783395	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783402	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs3825566	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900572	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906321	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs55859054	0.83[EUR][1000 genomes]
rs56365443	0.87[EUR][1000 genomes]
rs62006268	0.87[EUR][1000 genomes]
rs62007681	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62007683	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007684	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007686	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007687	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007718	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62007719	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6575983	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575984	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140564	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145113	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7146506	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7150317	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7152202	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154246	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155014	1.00[CEU][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156150	0.86[EUR][1000 genomes]
rs7158144	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158822	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160208	0.87[EUR][1000 genomes]
rs7160366	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72708854	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72708874	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72708893	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8013101	0.87[EUR][1000 genomes]
rs8015918	0.91[CEU][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8019578	0.85[EUR][1000 genomes]
rs9671911	0.96[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1989565	MARK3	cis	Thyroid	GTEx
rs1989565	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs1989565	CKB	cis	Skin Sun Exposed Lower leg	GTEx
rs1989565	BAG5	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103853600-103864200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:103853800-103864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:103853800-103867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:103854800-103865200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr14:103855000-103862400	Weak transcription	Placenta	Placenta
6	chr14:103855000-103868000	Weak transcription	Fetal Stomach	stomach
7	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
8	chr14:103855200-103864200	Weak transcription	Fetal Kidney	kidney
9	chr14:103855200-103865000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:103855200-103871800	Weak transcription	Brain Germinal Matrix	brain
11	chr14:103856400-103863200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr14:103856400-103863800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr14:103856600-103863200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:103856600-103863800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:103856600-103871200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr14:103856600-103871600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:103856800-103863200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr14:103856800-103863400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:103857000-103862600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:103857000-103871000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr14:103857600-103863200	Enhancers	Liver	Liver
22	chr14:103858200-103862600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:103858200-103863200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:103858200-103863200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr14:103858200-103863200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:103858400-103863600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:103858400-103865000	Enhancers	Pancreas	Pancrea
28	chr14:103858800-103864400	Weak transcription	Gastric	stomach
29	chr14:103858800-103871400	Weak transcription	Fetal Brain Female	brain
30	chr14:103859200-103862600	Enhancers	Osteobl	bone
31	chr14:103859200-103863200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:103859400-103862600	Enhancers	Colon Smooth Muscle	Colon
33	chr14:103859400-103862600	Enhancers	Thymus	Thymus
34	chr14:103859400-103863000	Enhancers	Hela-S3	cervix
35	chr14:103859400-103863200	Enhancers	Adipose Nuclei	Adipose
36	chr14:103859400-103866000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr14:103859600-103862400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr14:103859600-103862400	Enhancers	NH-A	brain
39	chr14:103859600-103862400	Enhancers	NHEK	skin
40	chr14:103859600-103862600	Enhancers	Primary B cells from peripheral blood	blood
41	chr14:103859600-103862600	Enhancers	HUVEC	blood vessel
42	chr14:103859600-103862800	Enhancers	Fetal Heart	heart
43	chr14:103859600-103863200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:103859600-103863200	Enhancers	Primary T cells from cord blood	blood
45	chr14:103859600-103863200	Enhancers	Stomach Mucosa	stomach
46	chr14:103859600-103863400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:103859600-103863400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr14:103859600-103863400	Enhancers	Psoas Muscle	Psoas
49	chr14:103859800-103862800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:103859800-103863200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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