Variant report

Variant	rs17114633
Chromosome Location	chr14:21151348-21151349
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	CHD2	chr14:21150384-21152789	Hela-S3	cervix:	n/a	chr14:21152322-21152331
2	POLR2A	chr14:21149363-21152939	GM15510	blood:	n/a	n/a
3	TBP	chr14:21150969-21152499	K562	blood:	n/a	n/a
4	TBL1XR1	chr14:21151277-21151725	K562	blood:	n/a	n/a
5	RCOR1	chr14:21151197-21152423	K562	blood:	n/a	n/a
6	FOXA2	chr14:21151304-21151828	HepG2	liver:	n/a	n/a
7	USF2	chr14:21151309-21152451	Hela-S3	cervix:	n/a	chr14:21151939-21151950
8	GATA3	chr14:21151104-21152794	A549	lung:	n/a	chr14:21152087-21152097
9	POLR2A	chr14:21149260-21152978	GM19099	blood:	n/a	n/a
10	RXRA	chr14:21151132-21152713	SK-N-SH	brain:	n/a	chr14:21151812-21151831
11	ARID3A	chr14:21149203-21152573	HepG2	liver:	n/a	n/a
12	NRF1	chr14:21149606-21151375	SK-N-SH	brain:	n/a	chr14:21150936-21150943
13	HDAC2	chr14:21149205-21153212	MCF-7	breast:	n/a	chr14:21152089-21152103 chr14:21151362-21151376 chr14:21150012-21150031 chr14:21152868-21152887 chr14:21152092-21152106 chr14:21149806-21149820
14	GATA2	chr14:21151219-21152195	SH-SY5Y	brain:	n/a	chr14:21152087-21152097
15	RFX5	chr14:21149324-21153419	Hela-S3	cervix:	n/a	chr14:21149513-21149521
16	POLR2A	chr14:21150406-21151637	GM12892	blood:	n/a	n/a
17	PML	chr14:21151156-21151515	GM12878	blood:	n/a	n/a
18	PML	chr14:21150448-21151677	MCF-7	breast:	n/a	n/a
19	EBF1	chr14:21150568-21152648	GM12878	blood:	n/a	n/a
20	NRF1	chr14:21150537-21151621	GM12878	blood:	n/a	chr14:21150936-21150943
21	YY1	chr14:21150796-21151812	GM12878	blood:	n/a	n/a
22	CHD2	chr14:21151286-21151612	K562	blood:	n/a	n/a
23	SIN3AK20	chr14:21150728-21151775	A549	lung:	n/a	n/a
24	TCF7L2	chr14:21151237-21153466	Hela-S3	cervix:	n/a	n/a
25	POU2F2	chr14:21151217-21151671	GM12891	blood:	n/a	n/a
26	MAX	chr14:21149333-21151837	A549	lung:	n/a	n/a
27	POLR2A	chr14:21149503-21151485	H1-hESC	embryonic stem cell:	n/a	n/a
28	MXI1	chr14:21151326-21151598	K562	blood:	n/a	n/a
29	GATA3	chr14:21151285-21151883	T-47D	breast:	n/a	n/a
30	POLR2A	chr14:21149408-21153447	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr14:21150446-21151348	GM12878	blood:	n/a	n/a
32	POLR2A	chr14:21149300-21152814	GM12892	blood:	n/a	n/a
33	POLR2A	chr14:21150114-21151499	ProgFib	skin:	n/a	n/a
34	MAFK	chr14:21151252-21151698	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYBL2	chr14:21149166-21157106	HepG2	liver:	n/a	n/a
36	MAZ	chr14:21150562-21151762	K562	blood:	n/a	n/a
37	THAP1	chr14:21151336-21151509	K562	blood:	n/a	n/a
38	POLR2A	chr14:21150423-21151352	A549	lung:	n/a	n/a
39	SIN3A	chr14:21149191-21153719	H1-hESC	embryonic stem cell:	n/a	chr14:21152603-21152612 chr14:21151285-21151299
40	POLR2A	chr14:21150314-21151642	GM12891	blood:	n/a	n/a
41	CEBPB	chr14:21151259-21151679	H1-hESC	embryonic stem cell:	n/a	chr14:21151266-21151279
42	POLR2A	chr14:21149939-21152047	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr14:21150388-21151701	H1-neurons	neurons:	n/a	n/a
44	HA-E2F1	chr14:21149905-21151366	MCF-7	breast:	n/a	chr14:21150195-21150207 chr14:21151219-21151229 chr14:21150199-21150206 chr14:21150198-21150207 chr14:21150199-21150206 chr14:21150199-21150206
45	MAX	chr14:21149356-21152942	Hela-S3	cervix:	n/a	n/a
46	TCF12	chr14:21149265-21153721	A549	lung:	n/a	n/a
47	POLR2A	chr14:21150421-21151623	PANC-1	pancreas:	n/a	n/a
48	YY1	chr14:21151278-21151690	ECC-1	luminal epithelium:	n/a	n/a
49	BCLAF1	chr14:21150560-21152692	GM12878	blood:	n/a	chr14:21150966-21150975 chr14:21152581-21152594 chr14:21152515-21152528
50	HNF4G	chr14:21151250-21151814	HepG2	liver:	n/a	chr14:21151771-21151783 chr14:21151770-21151784 chr14:21151771-21151783 chr14:21151770-21151784 chr14:21151770-21151785 chr14:21151771-21151779

No.	Distal block	Cell Line	Cell type
1	chr14:21143345..21145949-chr14:21148305..21151723,3	K562	blood:
2	chr14:21150737..21154554-chr14:21154913..21160550,6	K562	blood:
3	chr14:21149536..21151874-chr14:21316359..21319213,4	MCF-7	breast:
4	chr14:21099527..21101254-chr14:21148948..21151992,3	K562	blood:
5	chr14:20810776..20813078-chr14:21149132..21154522,5	MCF-7	breast:
6	chr14:20800751..20802597-chr14:21149805..21151522,2	MCF-7	breast:
7	chr14:20810085..20811615-chr14:21149711..21153396,3	K562	blood:
8	chr14:21146704..21148496-chr14:21149276..21151704,2	MCF-7	breast:
9	chr14:21099258..21101515-chr14:21148252..21151491,3	K562	blood:
10	chr14:20929088..20932258-chr14:21149898..21152677,3	K562	blood:
11	chr14:20936078..20938749-chr14:21149833..21151391,2	MCF-7	breast:
12	chr14:21120475..21122156-chr14:21149864..21151948,2	MCF-7	breast:
13	chr14:20809950..20813130-chr14:21150094..21153288,8	MCF-7	breast:
14	chr14:20810111..20813161-chr14:21149711..21152468,4	K562	blood:
15	chr14:21118477..21120025-chr14:21149832..21151560,2	MCF-7	breast:
16	chr12:109125124..109125679-chr14:21150802..21151366,2	Hela-S3	cervix:
17	chr14:21083339..21086312-chr14:21150396..21153555,4	K562	blood:
18	chr11:62605634..62607611-chr14:21149773..21151741,2	MCF-7	breast:
19	chr14:21150444..21151442-chr9:110251984..110252933,2	Hela-S3	cervix:
20	chr11:45826217..45827124-chr14:21150607..21151476,2	Hela-S3	cervix:
21	chr14:21124051..21127045-chr14:21149857..21151659,3	MCF-7	breast:
22	chr14:21076925..21085904-chr14:21148436..21153030,11	MCF-7	breast:
23	chr14:21150159..21151755-chr14:21571198..21573332,2	K562	blood:
24	chr14:21093202..21096224-chr14:21149755..21152190,4	MCF-7	breast:
25	chr14:21150281..21153004-chr14:21155152..21158000,3	K562	blood:
26	chr14:21150776..21151699-chr16:2204985..2205657,2	Hela-S3	cervix:
27	chr14:21083352..21086054-chr14:21150396..21152921,2	K562	blood:

Variant related genes	Relation type
RNASE4	TF binding region
ANG	TF binding region
ENSG00000259171	TF binding region
ENSG00000258818	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000181830	Chromatin interaction
ENSG00000239327	Chromatin interaction
ENSG00000199461	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000136826	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000173464	Chromatin interaction
ENSG00000110880	Chromatin interaction
ENSG00000100814	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000129484	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10137578	1.00[AMR][1000 genomes]
rs10139991	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1203	chr14:21120868-21166077	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1045004	chr14:21124345-21180397	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv541975	chr14:21124345-21180397	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21148000-21153400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr14:21148400-21153800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:21148400-21155000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:21148600-21152200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:21148600-21153000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr14:21148600-21153400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:21148600-21153600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr14:21148800-21153800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:21148800-21153800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:21148800-21155400	Bivalent/Poised TSS	HepG2	liver
11	chr14:21149000-21152000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:21149000-21152600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:21149000-21153200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:21149000-21153400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:21149000-21153600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr14:21149000-21153600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:21149000-21153800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr14:21149000-21154000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:21149200-21152600	Active TSS	Pancreas	Pancrea
20	chr14:21149200-21153200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr14:21149200-21153400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:21149200-21153400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:21149200-21153400	Active TSS	Fetal Kidney	kidney
24	chr14:21149200-21153400	Active TSS	Placenta Amnion	Placenta Amnion
25	chr14:21149200-21153400	Active TSS	Right Ventricle	heart
26	chr14:21149200-21153600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:21149200-21153600	Active TSS	Esophagus	oesophagus
28	chr14:21149200-21153600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr14:21149200-21153600	Active TSS	Left Ventricle	heart
30	chr14:21149200-21154000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr14:21149200-21154200	Active TSS	A549	lung
32	chr14:21149200-21154400	Active TSS	Aorta	Aorta
33	chr14:21149200-21155200	Active TSS	Right Atrium	heart
34	chr14:21149200-21155400	Active TSS	Ovary	ovary
35	chr14:21149400-21152400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:21149400-21152600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:21149400-21152600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr14:21149400-21152800	Active TSS	Brain Hippocampus Middle	brain
39	chr14:21149400-21152800	Active TSS	K562	blood
40	chr14:21149400-21153000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:21149400-21153000	Active TSS	NHEK	skin
42	chr14:21149400-21153200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr14:21149400-21153200	Active TSS	Fetal Heart	heart
44	chr14:21149400-21153400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:21149400-21153400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:21149400-21153400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:21149400-21153400	Active TSS	HSMM	muscle
48	chr14:21149400-21153400	Active TSS	NHLF	lung
49	chr14:21149400-21153600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:21149400-21153600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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