Variant report

Variant	rs62007684
Chromosome Location	chr14:103894223-103894224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr14:103893951-103894459	GM12878	blood:	n/a	n/a
2	CBX3	chr14:103893983-103894470	K562	blood:	n/a	n/a
3	STAT3	chr14:103893714-103894684	MCF10A-Er-Src	breast:	n/a	chr14:103893964-103893975 chr14:103893985-103893996
4	RUNX3	chr14:103893866-103894692	GM12878	blood:	n/a	chr14:103894610-103894619 chr14:103894610-103894619
5	HCFC1	chr14:103893827-103894401	K562	blood:	n/a	n/a
6	TEAD4	chr14:103894065-103894422	H1-hESC	embryonic stem cell:	n/a	n/a
7	RUNX3	chr14:103893938-103894422	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:103893824-103894387	K562	blood:	n/a	n/a
9	EP300	chr14:103893800-103894424	K562	blood:	n/a	n/a
10	EP300	chr14:103893878-103894229	K562	blood:	n/a	n/a
11	YY1	chr14:103894203-103894587	SK-N-SH	brain:	n/a	n/a
12	POU2F2	chr14:103893793-103894385	GM12878	blood:	n/a	n/a
13	STAT3	chr14:103893805-103894334	MCF10A-Er-Src	breast:	n/a	chr14:103893964-103893975 chr14:103893985-103893996
14	TBL1XR1	chr14:103893879-103894442	K562	blood:	n/a	n/a
15	IRF1	chr14:103893751-103894284	K562	blood:	n/a	n/a
16	ZMIZ1	chr14:103894072-103894245	K562	blood:	n/a	n/a
17	MAZ	chr14:103894138-103894383	K562	blood:	n/a	n/a
18	YY1	chr14:103893724-103894537	SK-N-SH_RA	brain:	n/a	n/a
19	BCL11A	chr14:103894029-103894405	GM12878	blood:	n/a	n/a
20	TBP	chr14:103893809-103894475	K562	blood:	n/a	n/a
21	ELF1	chr14:103894102-103894406	K562	blood:	n/a	n/a
22	POLR2A	chr14:103894171-103894255	ProgFib	skin:	n/a	n/a
23	YY1	chr14:103893773-103894511	H1-hESC	embryonic stem cell:	n/a	n/a
24	ARID3A	chr14:103893842-103894264	K562	blood:	n/a	n/a
25	STAT5A	chr14:103893600-103894404	K562	blood:	n/a	n/a
26	NR2F2	chr14:103893947-103894446	K562	blood:	n/a	n/a
27	POLR2A	chr14:103894094-103894571	H1-hESC	embryonic stem cell:	n/a	n/a
28	STAT1	chr14:103893790-103894224	K562	blood:	n/a	chr14:103893985-103893996
29	ESR1	chr14:103893991-103894411	ECC-1	luminal epithelium:	n/a	chr14:103894216-103894231
30	NR2F2	chr14:103893884-103894508	K562	blood:	n/a	n/a
31	TEAD4	chr14:103894048-103894461	H1-hESC	embryonic stem cell:	n/a	n/a
32	EP300	chr14:103893877-103894376	SK-N-SH_RA	brain:	n/a	n/a
33	POU2F2	chr14:103893839-103894378	GM12891	blood:	n/a	n/a
34	FOXP2	chr14:103894101-103894311	PFSK-1	brain:	n/a	n/a
35	YY1	chr14:103893973-103894549	GM12892	blood:	n/a	n/a
36	RCOR1	chr14:103894178-103894387	K562	blood:	n/a	n/a
37	ATF1	chr14:103893839-103894300	K562	blood:	n/a	n/a
38	YY1	chr14:103893860-103894524	GM12878	blood:	n/a	n/a
39	STAT5A	chr14:103893662-103894408	K562	blood:	n/a	n/a
40	POLR2A	chr14:103894059-103894237	HUVEC	blood vessel:	n/a	n/a
41	STAT3	chr14:103893733-103894488	MCF10A-Er-Src	breast:	n/a	chr14:103893964-103893975 chr14:103893985-103893996
42	POLR2A	chr14:103893975-103894330	GM12878	blood:	n/a	n/a
43	YY1	chr14:103894135-103894380	A549	lung:	n/a	n/a
44	YY1	chr14:103893981-103894373	GM12891	blood:	n/a	n/a
45	MAX	chr14:103894055-103894395	K562	blood:	n/a	n/a
46	POLR2A	chr14:103894028-103894480	PFSK-1	brain:	n/a	n/a
47	MYC	chr14:103894014-103894238	K562	blood:	n/a	n/a
48	POLR2A	chr14:103894095-103894456	SK-N-SH	brain:	n/a	n/a
49	FOS	chr14:103893841-103894260	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT1	chr14:103893792-103894295	K562	blood:	n/a	chr14:103893985-103893996

No.	Distal block	Cell Line	Cell type
1	chr14:103859647..103862253-chr14:103892408..103894463,2	K562	blood:
2	chr14:103810115..103812785-chr14:103892982..103894969,2	K562	blood:
3	chr14:103893677..103895539-chr14:103987804..103990047,2	K562	blood:

Variant related genes	Relation type
MARK3	TF binding region
ENSG00000166165	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10133035	0.81[EUR][1000 genomes]
rs10134580	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1013650	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139279	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10141120	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10141388	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10141433	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10143247	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145793	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150072	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1028613	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11621510	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622356	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11623869	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11624367	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626483	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626787	0.80[EUR][1000 genomes]
rs11628213	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11628969	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12879085	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12888077	0.91[EUR][1000 genomes]
rs12889639	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12890750	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12898029	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17617941	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17679475	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1951392	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1961600	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1989565	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2010281	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2273699	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2273700	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2273703	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2403180	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28361338	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28369539	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28444993	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28496120	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28583452	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28626081	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34216351	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742458	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783394	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3783395	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3783402	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3825566	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4900572	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4906321	0.90[EUR][1000 genomes]
rs55723020	0.80[EUR][1000 genomes]
rs55859054	0.83[EUR][1000 genomes]
rs56365443	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62006268	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62007681	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62007683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62007686	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62007687	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62007718	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62007719	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6575983	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6575984	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7140564	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7145113	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7146506	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7150317	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152202	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154246	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7155014	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7156150	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7158144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158822	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7160208	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7160366	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72708854	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72708874	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72708893	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72710714	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs8013101	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8015918	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8019578	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9671911	0.85[EUR][1000 genomes];0.81[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
rs62007684	BAG5	cis	multi-tissue	Pritchard
rs62007684	MARK3	cis	Thyroid	GTEx
rs62007684	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 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	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:103879000-103895200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
5	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
7	chr14:103881000-103900600	Weak transcription	Placenta	Placenta
8	chr14:103883000-103894400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:103883400-103900000	Weak transcription	Fetal Thymus	thymus
10	chr14:103883800-103896800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:103884000-103895400	Weak transcription	Stomach Mucosa	stomach
12	chr14:103884200-103897200	Weak transcription	Fetal Intestine Small	intestine
13	chr14:103888200-103895600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:103888200-103900400	Weak transcription	HepG2	liver
15	chr14:103889400-103917800	Weak transcription	Gastric	stomach
16	chr14:103889800-103895600	Weak transcription	Right Ventricle	heart
17	chr14:103890000-103896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:103890000-103900200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:103890000-103900400	Weak transcription	Aorta	Aorta
20	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:103890200-103895200	Weak transcription	Dnd41	blood
22	chr14:103890200-103900200	Weak transcription	NHLF	lung
23	chr14:103890200-103900400	Weak transcription	Thymus	Thymus
24	chr14:103890200-103900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:103890200-103900600	Weak transcription	HSMMtube	muscle
26	chr14:103890200-103905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:103890200-103914200	Weak transcription	Lung	lung
28	chr14:103890800-103897800	Weak transcription	Fetal Stomach	stomach
29	chr14:103891000-103904000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:103891200-103900000	Weak transcription	Primary B cells from cord blood	blood
31	chr14:103891200-103900400	Weak transcription	Fetal Intestine Large	intestine
32	chr14:103891800-103895400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:103892000-103895200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:103892000-103895800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr14:103892000-103896200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr14:103892000-103896200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr14:103892200-103894400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr14:103892200-103895200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:103892200-103895400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:103892200-103895800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr14:103892200-103896000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:103892600-103894600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr14:103892800-103894400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr14:103892800-103894400	Enhancers	Left Ventricle	heart
45	chr14:103892800-103895400	Enhancers	NH-A	brain
46	chr14:103892800-103895600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:103892800-103896000	Enhancers	K562	blood
48	chr14:103893000-103895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:103893000-103895800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr14:103893000-103904600	Weak transcription	H9 Cell Line	embryonic stem cell

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