Variant report

Variant	rs58132820
Chromosome Location	chr14:21150896-21150897
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	POLR2A	chr14:21149260-21152978	GM19099	blood:	n/a	n/a
4	ARID3A	chr14:21149203-21152573	HepG2	liver:	n/a	n/a
5	NRF1	chr14:21149606-21151375	SK-N-SH	brain:	n/a	chr14:21150936-21150943
6	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
7	USF2	chr14:21150365-21151009	Hela-S3	cervix:	n/a	n/a
8	RFX5	chr14:21149324-21153419	Hela-S3	cervix:	n/a	chr14:21149513-21149521
9	POLR2A	chr14:21150406-21151637	GM12892	blood:	n/a	n/a
10	POLR2A	chr14:21150799-21151158	H1-hESC	embryonic stem cell:	n/a	n/a
11	PML	chr14:21150448-21151677	MCF-7	breast:	n/a	n/a
12	EBF1	chr14:21150568-21152648	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:21150360-21151315	SK-N-MC	brain:	n/a	n/a
14	NRF1	chr14:21150537-21151621	GM12878	blood:	n/a	chr14:21150936-21150943
15	YY1	chr14:21150796-21151812	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr14:21150728-21151775	A549	lung:	n/a	n/a
17	MAX	chr14:21149333-21151837	A549	lung:	n/a	n/a
18	POLR2A	chr14:21150400-21151258	GM12891	blood:	n/a	n/a
19	POLR2A	chr14:21149503-21151485	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:21149408-21153447	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr14:21150446-21151348	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:21149300-21152814	GM12892	blood:	n/a	n/a
23	POLR2A	chr14:21150114-21151499	ProgFib	skin:	n/a	n/a
24	MYBL2	chr14:21149166-21157106	HepG2	liver:	n/a	n/a
25	E2F4	chr14:21149770-21151166	MCF10A-Er-Src	breast:	n/a	chr14:21150195-21150207 chr14:21150199-21150206 chr14:21150198-21150207 chr14:21150199-21150206 chr14:21150199-21150206
26	MAZ	chr14:21150562-21151762	K562	blood:	n/a	n/a
27	POLR2A	chr14:21150363-21151290	U87	brain:	n/a	n/a
28	POLR2A	chr14:21150423-21151352	A549	lung:	n/a	n/a
29	SIN3A	chr14:21149191-21153719	H1-hESC	embryonic stem cell:	n/a	chr14:21152603-21152612 chr14:21151285-21151299
30	POLR2A	chr14:21150314-21151642	GM12891	blood:	n/a	n/a
31	POLR2A	chr14:21149939-21152047	Hela-S3	cervix:	n/a	n/a
32	E2F6	chr14:21150857-21151064	K562	blood:	n/a	n/a
33	POLR2A	chr14:21150388-21151701	H1-neurons	neurons:	n/a	n/a
34	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
35	MAX	chr14:21149356-21152942	Hela-S3	cervix:	n/a	n/a
36	TCF12	chr14:21149265-21153721	A549	lung:	n/a	n/a
37	POLR2A	chr14:21150421-21151623	PANC-1	pancreas:	n/a	n/a
38	BCLAF1	chr14:21150560-21152692	GM12878	blood:	n/a	chr14:21150966-21150975 chr14:21152581-21152594 chr14:21152515-21152528
39	SPI1	chr14:21150836-21151000	GM12878	blood:	n/a	n/a
40	REST	chr14:21149197-21152321	H1-neurons	neurons:	n/a	chr14:21151143-21151156 chr14:21151140-21151153 chr14:21151284-21151298
41	POLR2A	chr14:21149629-21151611	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr14:21150071-21153557	HepG2	liver:	n/a	n/a
43	SPI1	chr14:21150823-21151044	K562	blood:	n/a	n/a
44	ATF2	chr14:21150373-21151883	GM12878	blood:	n/a	n/a
45	STAT3	chr14:21150838-21150937	MCF10A-Er-Src	breast:	n/a	chr14:21150903-21150915
46	GABPA	chr14:21149500-21151948	MCF-7	breast:	n/a	chr14:21150936-21150943
47	TBP	chr14:21150498-21152481	GM12878	blood:	n/a	n/a
48	NFIC	chr14:21149325-21153621	HepG2	liver:	n/a	n/a
49	ZNF143	chr14:21150851-21150974	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF3	chr14:21150837-21152813	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21143345..21145949-chr14:21148305..21151723,3	K562	blood:
2	chr14:21150361..21151280-chr16:89989386..89989953,2	Hela-S3	cervix:
3	chr14:21126940..21128460-chr14:21149474..21151016,2	K562	blood:
4	chr14:21150225..21151215-chr4:40058658..40059296,2	Hela-S3	cervix:
5	chr14:21150737..21154554-chr14:21154913..21160550,6	K562	blood:
6	chr14:21149536..21151874-chr14:21316359..21319213,4	MCF-7	breast:
7	chr14:21099527..21101254-chr14:21148948..21151992,3	K562	blood:
8	chr14:20810776..20813078-chr14:21149132..21154522,5	MCF-7	breast:
9	chr14:20800751..20802597-chr14:21149805..21151522,2	MCF-7	breast:
10	chr14:20810085..20811615-chr14:21149711..21153396,3	K562	blood:
11	chr14:21146704..21148496-chr14:21149276..21151704,2	MCF-7	breast:
12	chr14:21099258..21101515-chr14:21148252..21151491,3	K562	blood:
13	chr1:45477561..45478368-chr14:21150578..21151219,2	Hela-S3	cervix:
14	chr14:20929088..20932258-chr14:21149898..21152677,3	K562	blood:
15	chr14:21109934..21111510-chr14:21149341..21151187,2	MCF-7	breast:
16	chr14:21150421..21150943-chr17:47467499..47468033,2	Hela-S3	cervix:
17	chr14:21148448..21151342-chr14:21493048..21494909,2	K562	blood:
18	chr14:20936078..20938749-chr14:21149833..21151391,2	MCF-7	breast:
19	chr14:21120475..21122156-chr14:21149864..21151948,2	MCF-7	breast:
20	chr14:20809950..20813130-chr14:21150094..21153288,8	MCF-7	breast:
21	chr14:20810111..20813161-chr14:21149711..21152468,4	K562	blood:
22	chr14:21118477..21120025-chr14:21149832..21151560,2	MCF-7	breast:
23	chr12:109125124..109125679-chr14:21150802..21151366,2	Hela-S3	cervix:
24	chr14:21083339..21086312-chr14:21150396..21153555,4	K562	blood:
25	chr11:62605634..62607611-chr14:21149773..21151741,2	MCF-7	breast:
26	chr14:21150444..21151442-chr9:110251984..110252933,2	Hela-S3	cervix:
27	chr11:45826217..45827124-chr14:21150607..21151476,2	Hela-S3	cervix:
28	chr14:21124051..21127045-chr14:21149857..21151659,3	MCF-7	breast:
29	chr14:21076925..21085904-chr14:21148436..21153030,11	MCF-7	breast:
30	chr14:21150159..21151755-chr14:21571198..21573332,2	K562	blood:
31	chr14:21093202..21096224-chr14:21149755..21152190,4	MCF-7	breast:
32	chr14:21150281..21153004-chr14:21155152..21158000,3	K562	blood:
33	chr10:104952625..104953133-chr14:21150703..21151305,2	HCT-116	colon:
34	chr14:21150443..21151019-chr8:128230969..128231562,2	Hela-S3	cervix:
35	chr14:21150776..21151699-chr16:2204985..2205657,2	Hela-S3	cervix:
36	chr14:21150347..21151265-chr2:232537915..232538910,2	Hela-S3	cervix:
37	chr14:21083352..21086054-chr14:21150396..21152921,2	K562	blood:

Variant related genes	Relation type
ANG	TF binding region
ENSG00000259171	TF binding region
RNASE4	TF binding region
ENSG00000110880	Chromatin interaction
ENSG00000205794	Chromatin interaction
ENSG00000247844	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000076685	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000136826	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000199461	Chromatin interaction
ENSG00000181830	Chromatin interaction
ENSG00000258947	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000173464	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000100814	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000239327	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000214274	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12100929	0.81[ASN][1000 genomes]
rs17114699	0.89[ASN][1000 genomes]
rs17242776	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7155352	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][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	chr14:21148800-21151000	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr14:21148800-21153800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr14:21148800-21153800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:21148800-21155400	Bivalent/Poised TSS	HepG2	liver
12	chr14:21149000-21152000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:21149000-21152600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:21149000-21153200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:21149000-21153400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:21149000-21153600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr14:21149000-21153600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:21149000-21153800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr14:21149000-21154000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr14:21149200-21152600	Active TSS	Pancreas	Pancrea
21	chr14:21149200-21153200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr14:21149200-21153400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:21149200-21153400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:21149200-21153400	Active TSS	Fetal Kidney	kidney
25	chr14:21149200-21153400	Active TSS	Placenta Amnion	Placenta Amnion
26	chr14:21149200-21153400	Active TSS	Right Ventricle	heart
27	chr14:21149200-21153600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:21149200-21153600	Active TSS	Esophagus	oesophagus
29	chr14:21149200-21153600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr14:21149200-21153600	Active TSS	Left Ventricle	heart
31	chr14:21149200-21154000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr14:21149200-21154200	Active TSS	A549	lung
33	chr14:21149200-21154400	Active TSS	Aorta	Aorta
34	chr14:21149200-21155200	Active TSS	Right Atrium	heart
35	chr14:21149200-21155400	Active TSS	Ovary	ovary
36	chr14:21149400-21151000	Active TSS	Brain Germinal Matrix	brain
37	chr14:21149400-21152400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:21149400-21152600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:21149400-21152600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr14:21149400-21152800	Active TSS	Brain Hippocampus Middle	brain
41	chr14:21149400-21152800	Active TSS	K562	blood
42	chr14:21149400-21153000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:21149400-21153000	Active TSS	NHEK	skin
44	chr14:21149400-21153200	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr14:21149400-21153200	Active TSS	Fetal Heart	heart
46	chr14:21149400-21153400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:21149400-21153400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:21149400-21153400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:21149400-21153400	Active TSS	HSMM	muscle
50	chr14:21149400-21153400	Active TSS	NHLF	lung

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