Variant report

Variant	rs1951392
Chromosome Location	chr14:103853367-103853368
allele	A/C
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	chr14:103851236..103854697-chr14:103993929..103996210,3	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	chr14:103806698..103810659-chr14:103850742..103855221,6	MCF-7	breast:
5	chr14:103799041..103818802-chr14:103836567..103862153,82	K562	blood:
6	chr14:103797262..103804754-chr14:103849003..103864058,49	MCF-7	breast:
7	chr14:103570168..103572327-chr14:103851557..103853448,2	K562	blood:
8	chr14:103853355..103855747-chr14:103907911..103909590,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166166	Chromatin interaction
ENSG00000259775	Chromatin interaction
ENSG00000260285	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000272533	Chromatin interaction
ENSG00000205436	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10134580	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1013650	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10139279	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141120	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141388	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141433	0.84[EUR][1000 genomes]
rs10143247	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10145793	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10150072	0.82[EUR][1000 genomes]
rs1028613	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11621510	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622356	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11623869	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624367	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11626483	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11628213	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11628969	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12879085	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888077	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12889639	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12890750	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12898029	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17617941	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17679475	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1961600	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989565	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010281	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273699	0.80[AMR][1000 genomes]
rs2273700	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273703	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2403180	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28369539	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28444993	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28496120	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28583452	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28626081	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34216351	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742458	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759579	0.81[ASN][1000 genomes]
rs3783394	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783395	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783402	0.83[EUR][1000 genomes]
rs3825566	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900572	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906321	0.87[EUR][1000 genomes]
rs56365443	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62006268	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62007681	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62007683	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007684	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007686	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62007687	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007718	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62007719	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6575983	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575984	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140564	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145113	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7146506	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7150317	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7152202	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154246	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155014	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156150	0.82[EUR][1000 genomes]
rs7158144	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158822	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7160208	0.85[EUR][1000 genomes]
rs7160366	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72708854	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72708874	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72708893	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72710714	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs8013101	0.84[EUR][1000 genomes]
rs8015918	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8019578	0.82[EUR][1000 genomes]
rs9671911	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1951392	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs1951392	BAG5	cis	multi-tissue	Pritchard
rs1951392	MARK3	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103850800-103853600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:103850800-103853600	Active TSS	Rectal Smooth Muscle	rectum
3	chr14:103850800-103854200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:103850800-103854400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr14:103851000-103853400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:103851000-103853400	Active TSS	Fetal Kidney	kidney
7	chr14:103851000-103853400	Active TSS	Osteobl	bone
8	chr14:103851000-103853600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:103851000-103853600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr14:103851000-103853800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr14:103851000-103854200	Active TSS	Aorta	Aorta
12	chr14:103851000-103854200	Active TSS	HSMM	muscle
13	chr14:103851000-103855000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:103851000-103855000	Active TSS	Right Atrium	heart
15	chr14:103851000-103855200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:103851200-103853400	Active TSS	Colon Smooth Muscle	Colon
17	chr14:103851200-103853400	Active TSS	Fetal Stomach	stomach
18	chr14:103851200-103853400	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr14:103851200-103853600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:103851200-103853600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:103851200-103853600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:103851200-103853800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr14:103851200-103853800	Active TSS	Left Ventricle	heart
24	chr14:103851200-103853800	Active TSS	Lung	lung
25	chr14:103851200-103853800	Active TSS	Psoas Muscle	Psoas
26	chr14:103851200-103853800	Active TSS	A549	lung
27	chr14:103851200-103853800	Active TSS	HSMMtube	muscle
28	chr14:103851200-103854000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:103851200-103854000	Active TSS	Brain Angular Gyrus	brain
30	chr14:103851200-103854000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:103851200-103854000	Active TSS	Ovary	ovary
32	chr14:103851200-103854000	Active TSS	Thymus	Thymus
33	chr14:103851200-103854200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:103851200-103854200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr14:103851200-103854400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:103851200-103854400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:103851200-103854400	Active TSS	Right Ventricle	heart
38	chr14:103851200-103854600	Active TSS	NHDF-Ad	bronchial
39	chr14:103851200-103854600	Active TSS	NHLF	lung
40	chr14:103851200-103854800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:103851400-103853400	Active TSS	Fetal Lung	lung
42	chr14:103851400-103853400	Active TSS	Fetal Muscle Leg	muscle
43	chr14:103851400-103853400	Active TSS	Stomach Mucosa	stomach
44	chr14:103851400-103853600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:103851400-103853600	Active TSS	Fetal Intestine Small	intestine
46	chr14:103851400-103853600	Active TSS	NH-A	brain
47	chr14:103851400-103853800	Active TSS	Fetal Intestine Large	intestine
48	chr14:103851400-103853800	Active TSS	Fetal Thymus	thymus
49	chr14:103851400-103854000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:103851400-103854000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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