Variant report

Variant	rs11845345
Chromosome Location	chr14:77923783-77923784
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	MYC	chr14:77923749-77923953	MCF-7	breast:	n/a	n/a
2	POLR2A	chr14:77923625-77924559	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:77923602-77925047	GM12891	blood:	n/a	n/a
4	POLR2A	chr14:77923632-77924989	PFSK-1	brain:	n/a	n/a
5	SP1	chr14:77923625-77924715	A549	lung:	n/a	chr14:77924354-77924364 chr14:77924384-77924393 chr14:77924386-77924400
6	SRF	chr14:77923436-77924693	MCF-7	breast:	n/a	n/a
7	ELF1	chr14:77923359-77924811	MCF-7	breast:	n/a	chr14:77924449-77924458 chr14:77924369-77924378 chr14:77924368-77924379
8	MYBL2	chr14:77923539-77924716	HepG2	liver:	n/a	n/a
9	ZBTB33	chr14:77923700-77924411	HepG2	liver:	n/a	chr14:77924106-77924121
10	POLR2A	chr14:77923413-77925416	K562	blood:	n/a	n/a
11	TEAD4	chr14:77923712-77924382	HepG2	liver:	n/a	n/a
12	YY1	chr14:77923397-77924033	H1-hESC	embryonic stem cell:	n/a	chr14:77923878-77923889 chr14:77923873-77923887
13	YY1	chr14:77923748-77924761	GM12891	blood:	n/a	chr14:77923878-77923889 chr14:77923873-77923887
14	MAX	chr14:77923764-77925181	H1-hESC	embryonic stem cell:	n/a	chr14:77925077-77925093
15	CTCF	chr14:77923740-77923890	WERI-Rb-1	eye:	n/a	n/a
16	NR2C2	chr14:77923762-77924419	HepG2	liver:	n/a	n/a
17	POU2F2	chr14:77923666-77924706	GM12878	blood:	n/a	chr14:77924382-77924394
18	STAT5A	chr14:77923710-77924706	GM12878	blood:	n/a	chr14:77924386-77924398
19	MAFK	chr14:77923411-77924349	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr14:77923166-77925332	SK-N-MC	brain:	n/a	n/a
21	NFIC	chr14:77923657-77924544	HepG2	liver:	n/a	n/a
22	ELF1	chr14:77923388-77924562	K562	blood:	n/a	chr14:77924449-77924458 chr14:77924369-77924378 chr14:77924368-77924379
23	POU2F2	chr14:77923723-77923995	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:77923353-77925167	GM12878	blood:	n/a	n/a
25	MAX	chr14:77923650-77925244	SK-N-SH	brain:	n/a	chr14:77925077-77925093
26	TAF1	chr14:77923707-77923993	GM12891	blood:	n/a	n/a
27	POLR2A	chr14:77923318-77925961	GM12891	blood:	n/a	n/a
28	MAZ	chr14:77923589-77924624	GM12878	blood:	n/a	n/a
29	ATF3	chr14:77923756-77924436	GM12878	blood:	n/a	n/a
30	POU2F2	chr14:77923734-77924553	GM12878	blood:	n/a	chr14:77924382-77924394
31	JUND	chr14:77923370-77924542	K562	blood:	n/a	n/a
32	ETS1	chr14:77923467-77924828	A549	lung:	n/a	chr14:77924151-77924164 chr14:77924370-77924379 chr14:77924368-77924377 chr14:77924370-77924379 chr14:77924057-77924070 chr14:77924370-77924379 chr14:77923878-77923889 chr14:77924367-77924380 chr14:77924370-77924379 chr14:77923993-77924006 chr14:77924366-77924382 chr14:77924150-77924163
33	TAF1	chr14:77923675-77924118	GM12891	blood:	n/a	n/a
34	ETS1	chr14:77923713-77924599	K562	blood:	n/a	chr14:77924151-77924164 chr14:77924370-77924379 chr14:77924368-77924377 chr14:77924370-77924379 chr14:77924057-77924070 chr14:77924370-77924379 chr14:77923878-77923889 chr14:77924367-77924380 chr14:77924370-77924379 chr14:77923993-77924006 chr14:77924366-77924382 chr14:77924150-77924163
35	RAD21	chr14:77923601-77923963	HepG2	liver:	n/a	n/a
36	SIN3AK20	chr14:77923730-77924034	HepG2	liver:	n/a	n/a
37	CHD2	chr14:77923602-77924561	H1-hESC	embryonic stem cell:	n/a	n/a
38	GABPA	chr14:77923757-77924746	GM12878	blood:	n/a	n/a
39	GATA3	chr14:77922893-77925258	MCF-7	breast:	n/a	chr14:77924094-77924104
40	ELF1	chr14:77923333-77924997	MCF-7	breast:	n/a	chr14:77924449-77924458 chr14:77924369-77924378 chr14:77924368-77924379
41	MAX	chr14:77923693-77925183	Hela-S3	cervix:	n/a	chr14:77925077-77925093
42	POLR2A	chr14:77923635-77924059	A549	lung:	n/a	n/a
43	MAX	chr14:77923702-77925221	K562	blood:	n/a	chr14:77925077-77925093
44	SMC3	chr14:77923622-77924570	Hela-S3	cervix:	n/a	chr14:77924507-77924514
45	MAX	chr14:77923588-77925231	MCF-7	breast:	n/a	chr14:77925077-77925093
46	POU2F2	chr14:77923635-77924569	GM12891	blood:	n/a	chr14:77924382-77924394
47	IRF1	chr14:77923742-77925309	K562	blood:	n/a	chr14:77925239-77925253 chr14:77925240-77925253
48	ARID3A	chr14:77923569-77924465	HepG2	liver:	n/a	n/a
49	POLR2A	chr14:77923722-77923968	A549	lung:	n/a	n/a
50	STAT3	chr14:77923084-77924290	GM12878	blood:	n/a	chr14:77923471-77923479

No.	Distal block	Cell Line	Cell type
1	chr14:77921860..77928400-chr14:77931824..77937732,8	MCF-7	breast:
2	chr14:77786062..77789367-chr14:77922502..77925939,5	K562	blood:
3	chr14:77841845..77843819-chr14:77922794..77925151,2	MCF-7	breast:
4	chr14:77767504..77771365-chr14:77923200..77926224,4	MCF-7	breast:
5	chr14:77841945..77846770-chr14:77921022..77925977,11	MCF-7	breast:
6	chr14:77786728..77789222-chr14:77922439..77925921,5	MCF-7	breast:
7	chr14:77838311..77841794-chr14:77920547..77923802,4	MCF-7	breast:
8	chr14:77789665..77794031-chr14:77921841..77927059,7	MCF-7	breast:
9	chr14:77923503..77924384-chr15:42565241..42565896,2	NB4	blood:
10	chr14:77922378..77925268-chr14:78174504..78177181,3	MCF-7	breast:
11	chr14:77767650..77771138-chr14:77923006..77925950,6	MCF-7	breast:
12	chr14:77916294..77921948-chr14:77922001..77926650,9	K562	blood:
13	chr14:77922506..77924938-chr14:78082363..78084357,2	MCF-7	breast:
14	chr14:77842121..77845840-chr14:77923685..77925710,4	K562	blood:
15	chr14:77815185..77819535-chr14:77922944..77925749,3	MCF-7	breast:
16	chr14:77923636..77926196-chr14:78022386..78024984,2	MCF-7	breast:
17	chr14:77923271..77925943-chr14:77932177..77936062,3	K562	blood:

Variant related genes	Relation type
VIPAS39	TF binding region
AHSA1	TF binding region
ENSG00000212371	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000214013	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000103978	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000266628	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10130481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10133824	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs10146635	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10483882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846861	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12885247	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12891177	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12891485	0.90[AFR][1000 genomes]
rs12892329	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17750993	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs17824094	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1967638	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28599756	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28602758	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33915834	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34646707	0.89[ASN][1000 genomes]
rs34835605	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35311406	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3825694	0.88[GIH][hapmap];0.86[MKK][hapmap];0.82[YRI][hapmap]
rs45527334	0.84[AFR][1000 genomes]
rs45540040	0.84[AFR][1000 genomes]
rs67479808	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71413462	0.86[AMR][1000 genomes]
rs7145606	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs760252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003282	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8005999	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11845345	C14orf148	cis	cerebellum	SCAN
rs11845345	ISM2	cis	parietal	SCAN
rs11845345	AHSA1	cis	parietal	SCAN
rs11845345	TMED8	cis	Skin Sun Exposed Lower leg	GTEx
rs11845345	KIAA1737	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77922200-77925800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:77922600-77925400	Active TSS	Fetal Kidney	kidney
3	chr14:77922800-77923800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr14:77922800-77923800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr14:77922800-77924200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:77922800-77925800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:77922800-77925800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:77922800-77925800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:77922800-77926000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr14:77923000-77923800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr14:77923000-77923800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr14:77923000-77923800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr14:77923000-77925000	Active TSS	Fetal Muscle Leg	muscle
14	chr14:77923000-77925200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:77923000-77925200	Active TSS	NHLF	lung
16	chr14:77923000-77925400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:77923000-77925400	Active TSS	Fetal Intestine Large	intestine
18	chr14:77923000-77925400	Active TSS	Rectal Smooth Muscle	rectum
19	chr14:77923000-77925400	Active TSS	Stomach Mucosa	stomach
20	chr14:77923000-77925600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr14:77923000-77925600	Active TSS	Fetal Muscle Trunk	muscle
22	chr14:77923000-77925600	Active TSS	Right Ventricle	heart
23	chr14:77923000-77925800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr14:77923000-77925800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr14:77923000-77925800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:77923000-77925800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:77923000-77925800	Active TSS	Psoas Muscle	Psoas
28	chr14:77923000-77925800	Active TSS	Right Atrium	heart
29	chr14:77923000-77925800	Active TSS	A549	lung
30	chr14:77923000-77925800	Active TSS	HSMM	muscle
31	chr14:77923000-77925800	Active TSS	NHDF-Ad	bronchial
32	chr14:77923000-77926000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:77923200-77923800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr14:77923200-77923800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr14:77923200-77923800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr14:77923200-77923800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr14:77923200-77923800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:77923200-77923800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr14:77923200-77923800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr14:77923200-77924400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:77923200-77924600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:77923200-77924800	Active TSS	Duodenum Mucosa	Duodenum
43	chr14:77923200-77925000	Active TSS	Fetal Brain Female	brain
44	chr14:77923200-77925200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:77923200-77925400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:77923200-77925400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:77923200-77925400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr14:77923200-77925400	Active TSS	Colon Smooth Muscle	Colon
49	chr14:77923200-77925400	Active TSS	Placenta Amnion	Placenta Amnion
50	chr14:77923200-77925400	Active TSS	Sigmoid Colon	Sigmoid Colon

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