Variant report

Variant	rs17824214
Chromosome Location	chr14:77924227-77924228
allele	A/G
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	POLR2A	chr14:77923625-77924559	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:77923602-77925047	GM12891	blood:	n/a	n/a
3	POLR2A	chr14:77923632-77924989	PFSK-1	brain:	n/a	n/a
4	USF1	chr14:77923918-77924407	K562	blood:	n/a	n/a
5	SP1	chr14:77923625-77924715	A549	lung:	n/a	chr14:77924354-77924364 chr14:77924384-77924393 chr14:77924386-77924400
6	GABPA	chr14:77923820-77924511	Hela-S3	cervix:	n/a	n/a
7	SRF	chr14:77923436-77924693	MCF-7	breast:	n/a	n/a
8	NFE2	chr14:77924020-77924270	GM12878	blood:	n/a	n/a
9	ELF1	chr14:77923359-77924811	MCF-7	breast:	n/a	chr14:77924449-77924458 chr14:77924369-77924378 chr14:77924368-77924379
10	TAF7	chr14:77924225-77924675	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYBL2	chr14:77923539-77924716	HepG2	liver:	n/a	n/a
12	ZBTB33	chr14:77923700-77924411	HepG2	liver:	n/a	chr14:77924106-77924121
13	POLR2A	chr14:77923413-77925416	K562	blood:	n/a	n/a
14	TEAD4	chr14:77923712-77924382	HepG2	liver:	n/a	n/a
15	YY1	chr14:77923748-77924761	GM12891	blood:	n/a	chr14:77923878-77923889 chr14:77923873-77923887
16	MAX	chr14:77923764-77925181	H1-hESC	embryonic stem cell:	n/a	chr14:77925077-77925093
17	NR2C2	chr14:77923762-77924419	HepG2	liver:	n/a	n/a
18	JUN	chr14:77923874-77924504	K562	blood:	n/a	n/a
19	USF1	chr14:77923786-77924557	A549	lung:	n/a	chr14:77924504-77924520
20	ATF3	chr14:77923828-77924271	H1-hESC	embryonic stem cell:	n/a	n/a
21	POU2F2	chr14:77923666-77924706	GM12878	blood:	n/a	chr14:77924382-77924394
22	STAT5A	chr14:77923710-77924706	GM12878	blood:	n/a	chr14:77924386-77924398
23	MAFK	chr14:77923411-77924349	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr14:77923166-77925332	SK-N-MC	brain:	n/a	n/a
25	NFIC	chr14:77923657-77924544	HepG2	liver:	n/a	n/a
26	ELF1	chr14:77923388-77924562	K562	blood:	n/a	chr14:77924449-77924458 chr14:77924369-77924378 chr14:77924368-77924379
27	RFX5	chr14:77923903-77924510	HepG2	liver:	n/a	n/a
28	MYC	chr14:77923791-77925256	Hela-S3	cervix:	n/a	chr14:77925077-77925093
29	PML	chr14:77923986-77924702	K562	blood:	n/a	n/a
30	POLR2A	chr14:77923353-77925167	GM12878	blood:	n/a	n/a
31	MAX	chr14:77923650-77925244	SK-N-SH	brain:	n/a	chr14:77925077-77925093
32	POLR2A	chr14:77923318-77925961	GM12891	blood:	n/a	n/a
33	MAZ	chr14:77923589-77924624	GM12878	blood:	n/a	n/a
34	ATF3	chr14:77923756-77924436	GM12878	blood:	n/a	n/a
35	POU2F2	chr14:77923734-77924553	GM12878	blood:	n/a	chr14:77924382-77924394
36	JUND	chr14:77923370-77924542	K562	blood:	n/a	n/a
37	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
38	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
39	CHD2	chr14:77923602-77924561	H1-hESC	embryonic stem cell:	n/a	n/a
40	GABPA	chr14:77923757-77924746	GM12878	blood:	n/a	n/a
41	E2F4	chr14:77923843-77924548	MCF10A-Er-Src	breast:	n/a	chr14:77924455-77924465
42	GATA3	chr14:77922893-77925258	MCF-7	breast:	n/a	chr14:77924094-77924104
43	ELF1	chr14:77923333-77924997	MCF-7	breast:	n/a	chr14:77924449-77924458 chr14:77924369-77924378 chr14:77924368-77924379
44	MAX	chr14:77923693-77925183	Hela-S3	cervix:	n/a	chr14:77925077-77925093
45	MAX	chr14:77923702-77925221	K562	blood:	n/a	chr14:77925077-77925093
46	SMC3	chr14:77923622-77924570	Hela-S3	cervix:	n/a	chr14:77924507-77924514
47	MAX	chr14:77923588-77925231	MCF-7	breast:	n/a	chr14:77925077-77925093
48	POU2F2	chr14:77923635-77924569	GM12891	blood:	n/a	chr14:77924382-77924394
49	IRF1	chr14:77923742-77925309	K562	blood:	n/a	chr14:77925239-77925253 chr14:77925240-77925253
50	ARID3A	chr14:77923569-77924465	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:77924209-77924259	HRCEpiC	kidney:	n/a
2	chr14:77924209-77924259	BE2_C	brain:	n/a
3	chr14:77924209-77924259	HMEC	breast:	n/a
4	chr14:77924209-77924259	HEK293	kidney:	embryo
5	chr14:77924209-77924259	HepG2	liver:	n/a
6	chr14:77924209-77924259	SAEC	small airway:	n/a
7	chr14:77924209-77924259	RPTEC	kidney:	n/a
8	chr14:77924209-77924259	Caco-2	colon:	n/a
9	chr14:77924209-77924259	GM12878	blood:	n/a
10	chr14:77924209-77924259	GM06990	blood:	n/a
11	chr14:77924209-77924259	AG09319	gingival:	n/a
12	chr14:77924209-77924259	AoSMC	blood vessel:	n/a
13	chr14:77924209-77924259	HRE	kidney:	n/a
14	chr14:77924209-77924259	HUVEC	blood vessel:	n/a
15	chr14:77924209-77924259	Hepatocyte	liver:	n/a
16	chr14:77924209-77924259	Jurkat	blood:	n/a
17	chr14:77924209-77924259	H1-hESC	embryonic stem cell:	embryo
18	chr14:77924209-77924259	SK-N-MC	brain:	n/a
19	chr14:77924209-77924259	GM12891	blood:	n/a
20	chr14:77924209-77924259	GM19239	blood:	n/a
21	chr14:77924209-77924259	NH-A	brain:	n/a
22	chr14:77924209-77924259	PANC-1	pancreas:	n/a
23	chr14:77924209-77924259	AG04450	lung:	fetal
24	chr14:77924209-77924259	PFSK-1	brain:	n/a
25	chr14:77924209-77924259	A549	lung:	n/a
26	chr14:77924209-77924259	U87	brain:	n/a
27	chr14:77924209-77924259	GM12892	blood:	n/a
28	chr14:77924209-77924259	MCF-7	breast:	n/a
29	chr14:77924209-77924259	HIPEpiC	eye:	n/a
30	chr14:77924209-77924259	HNPCEpiC	eye:	n/a
31	chr14:77924209-77924259	HL-60	blood:	n/a
32	chr14:77924209-77924259	NT2-D1	testis:	n/a
33	chr14:77924209-77924259	NHDF-neo	bronchial:	n/a
34	chr14:77924209-77924259	HCM	heart:	n/a
35	chr14:77924209-77924259	NHBE	bronchial:	n/a
36	chr14:77924209-77924259	LNCaP	prostate:	n/a
37	chr14:77924209-77924259	BJ	skin:	n/a
38	chr14:77924209-77924259	ovcar-3	ovarian:	n/a
39	chr14:77924209-77924259	HPAEpiC	pulmonary alveolar:	n/a
40	chr14:77924209-77924259	Hela-S3	cervix:	n/a
41	chr14:77924209-77924259	NB4	blood:	n/a
42	chr14:77924209-77924259	AG09309	skin:	n/a
43	chr14:77924209-77924259	HEEpiC	esophagus:	n/a
44	chr14:77924209-77924259	HCT-116	colon:	n/a
45	chr14:77924209-77924259	PrEC	prostate:	n/a
46	chr14:77924209-77924259	AG10803	skin:	n/a
47	chr14:77924209-77924259	T-47D	breast:	n/a
48	chr14:77924209-77924259	HCF	heart:	n/a
49	chr14:77924209-77924259	CMK	blood:	n/a
50	chr14:77924209-77924259	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77923897..77924425-chr3:49940865..49941762,2	Hela-S3	cervix:
2	chr14:77921860..77928400-chr14:77931824..77937732,8	MCF-7	breast:
3	chr14:77786062..77789367-chr14:77922502..77925939,5	K562	blood:
4	chr14:77841845..77843819-chr14:77922794..77925151,2	MCF-7	breast:
5	chr14:77767504..77771365-chr14:77923200..77926224,4	MCF-7	breast:
6	chr14:77841945..77846770-chr14:77921022..77925977,11	MCF-7	breast:
7	chr14:77786728..77789222-chr14:77922439..77925921,5	MCF-7	breast:
8	chr14:77787369..77789536-chr14:77923983..77928279,4	K562	blood:
9	chr14:77785598..77789538-chr14:77924091..77927637,5	MCF-7	breast:
10	chr14:77789665..77794031-chr14:77921841..77927059,7	MCF-7	breast:
11	chr14:77923503..77924384-chr15:42565241..42565896,2	NB4	blood:
12	chr14:77922378..77925268-chr14:78174504..78177181,3	MCF-7	breast:
13	chr14:77767650..77771138-chr14:77923006..77925950,6	MCF-7	breast:
14	chr14:77910466..77912920-chr14:77924163..77926233,2	MCF-7	breast:
15	chr14:77916294..77921948-chr14:77922001..77926650,9	K562	blood:
16	chr14:77922506..77924938-chr14:78082363..78084357,2	MCF-7	breast:
17	chr14:77842121..77845840-chr14:77923685..77925710,4	K562	blood:
18	chr14:77815185..77819535-chr14:77922944..77925749,3	MCF-7	breast:
19	chr14:77923636..77926196-chr14:78022386..78024984,2	MCF-7	breast:
20	chr14:77923271..77925943-chr14:77932177..77936062,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf133-1	chr14:77923838-77924295	NONHSAT037989

Variant related genes	Relation type
AHSA1	TF binding region
VIPAS39	TF binding region
AHSA1	CpG island
VIPAS39	CpG island
ENSG00000266628	Chromatin interaction
ENSG00000103978	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000164078	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000228008	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000214013	Chromatin interaction
ENSG00000212371	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10149037	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1061629	0.85[CHD][hapmap]
rs11159261	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs11539461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623826	0.85[CHD][hapmap]
rs11624314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11625365	0.85[CHD][hapmap]
rs11844300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12432582	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12433521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434419	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12435136	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs12435676	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12897689	1.00[ASN][1000 genomes]
rs13379432	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs176781	0.85[CHD][hapmap]
rs17751406	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17751412	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824034	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs17824322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824567	1.00[MEX][hapmap]
rs2063997	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2091916	0.85[CHD][hapmap]
rs2242619	0.85[CHD][hapmap]
rs28583775	0.86[ASN][1000 genomes]
rs34180883	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3742737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3783985	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4223	0.85[CHD][hapmap]
rs4575469	0.85[CHD][hapmap]
rs4899652	1.00[JPT][hapmap]
rs4899655	0.85[CHD][hapmap]
rs4903578	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4903579	1.00[JPT][hapmap]
rs4903580	1.00[JPT][hapmap]
rs4903581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6574374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7149534	1.00[ASN][1000 genomes]
rs7155063	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7156032	1.00[CHB][hapmap]
rs7156671	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8005759	0.85[CHD][hapmap]
rs8007503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8010520	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8017215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8018509	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323643	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs963283	0.85[CHD][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
rs17824214	KIAA1737	cis	cerebellum	SCAN
rs17824214	ZDHHC22	cis	parietal	SCAN
rs17824214	ZDHHC22	cis	cerebellum	SCAN
rs17824214	ESRRB	cis	cerebellum	SCAN
rs17824214	AHSA1	cis	cerebellum	SCAN

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	chr14:77922800-77925800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:77922800-77925800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:77922800-77925800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:77922800-77926000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr14:77923000-77925000	Active TSS	Fetal Muscle Leg	muscle
8	chr14:77923000-77925200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:77923000-77925200	Active TSS	NHLF	lung
10	chr14:77923000-77925400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:77923000-77925400	Active TSS	Fetal Intestine Large	intestine
12	chr14:77923000-77925400	Active TSS	Rectal Smooth Muscle	rectum
13	chr14:77923000-77925400	Active TSS	Stomach Mucosa	stomach
14	chr14:77923000-77925600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr14:77923000-77925600	Active TSS	Fetal Muscle Trunk	muscle
16	chr14:77923000-77925600	Active TSS	Right Ventricle	heart
17	chr14:77923000-77925800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr14:77923000-77925800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:77923000-77925800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:77923000-77925800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:77923000-77925800	Active TSS	Psoas Muscle	Psoas
22	chr14:77923000-77925800	Active TSS	Right Atrium	heart
23	chr14:77923000-77925800	Active TSS	A549	lung
24	chr14:77923000-77925800	Active TSS	HSMM	muscle
25	chr14:77923000-77925800	Active TSS	NHDF-Ad	bronchial
26	chr14:77923000-77926000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:77923200-77924400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:77923200-77924600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:77923200-77924800	Active TSS	Duodenum Mucosa	Duodenum
30	chr14:77923200-77925000	Active TSS	Fetal Brain Female	brain
31	chr14:77923200-77925200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:77923200-77925400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:77923200-77925400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:77923200-77925400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr14:77923200-77925400	Active TSS	Colon Smooth Muscle	Colon
36	chr14:77923200-77925400	Active TSS	Placenta Amnion	Placenta Amnion
37	chr14:77923200-77925400	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr14:77923200-77925600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr14:77923200-77925600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:77923200-77925600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:77923200-77925600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:77923200-77925600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:77923200-77925600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:77923200-77925600	Active TSS	Aorta	Aorta
45	chr14:77923200-77925600	Active TSS	Colonic Mucosa	Colon
46	chr14:77923200-77925600	Active TSS	Fetal Intestine Small	intestine
47	chr14:77923200-77925600	Active TSS	Placenta	Placenta
48	chr14:77923200-77925600	Active TSS	Gastric	stomach
49	chr14:77923200-77925600	Active TSS	Lung	lung
50	chr14:77923200-77925800	Active TSS	H9 Cell Line	embryonic stem cell

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