Variant report

Variant	rs58964539
Chromosome Location	chr14:21150303-21150304
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:194)
CpG islands
(count:61)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:194 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr14:21149234-21150551	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:21149363-21152939	GM15510	blood:	n/a	n/a
3	TEAD4	chr14:21149312-21150348	K562	blood:	n/a	n/a
4	TEAD4	chr14:21149557-21150391	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr14:21149260-21152978	GM19099	blood:	n/a	n/a
6	ARID3A	chr14:21149203-21152573	HepG2	liver:	n/a	n/a
7	NRF1	chr14:21149606-21151375	SK-N-SH	brain:	n/a	chr14:21150936-21150943
8	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
9	YY1	chr14:21149933-21150727	ECC-1	luminal epithelium:	n/a	n/a
10	GTF3C2	chr14:21149193-21150790	Hela-S3	cervix:	n/a	n/a
11	RFX5	chr14:21149324-21153419	Hela-S3	cervix:	n/a	chr14:21149513-21149521
12	MAX	chr14:21149333-21151837	A549	lung:	n/a	n/a
13	SIX5	chr14:21149574-21150386	A549	lung:	n/a	n/a
14	POLR2A	chr14:21149503-21151485	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr14:21149408-21153447	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr14:21149300-21152814	GM12892	blood:	n/a	n/a
17	POLR2A	chr14:21150114-21151499	ProgFib	skin:	n/a	n/a
18	MYBL2	chr14:21149166-21157106	HepG2	liver:	n/a	n/a
19	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
20	EP300	chr14:21149645-21150359	HepG2	liver:	n/a	n/a
21	SIN3A	chr14:21149191-21153719	H1-hESC	embryonic stem cell:	n/a	chr14:21152603-21152612 chr14:21151285-21151299
22	POLR2A	chr14:21149939-21152047	Hela-S3	cervix:	n/a	n/a
23	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
24	MAX	chr14:21149356-21152942	Hela-S3	cervix:	n/a	n/a
25	TCF12	chr14:21149265-21153721	A549	lung:	n/a	n/a
26	REST	chr14:21149197-21152321	H1-neurons	neurons:	n/a	chr14:21151143-21151156 chr14:21151140-21151153 chr14:21151284-21151298
27	POLR2A	chr14:21149629-21151611	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr14:21150071-21153557	HepG2	liver:	n/a	n/a
29	YY1	chr14:21149681-21150530	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr14:21150220-21150370	BJ	skin:	n/a	n/a
31	GABPA	chr14:21149500-21151948	MCF-7	breast:	n/a	chr14:21150936-21150943
32	CHD1	chr14:21149686-21150580	H1-hESC	embryonic stem cell:	n/a	n/a
33	NFIC	chr14:21149325-21153621	HepG2	liver:	n/a	n/a
34	TBL1XR1	chr14:21149461-21150328	K562	blood:	n/a	n/a
35	YY1	chr14:21149666-21150532	GM12878	blood:	n/a	n/a
36	EP300	chr14:21149492-21151725	GM12878	blood:	n/a	n/a
37	CEBPB	chr14:21149419-21153612	Hela-S3	cervix:	n/a	chr14:21151266-21151279 chr14:21153379-21153388 chr14:21153378-21153389 chr14:21153377-21153388 chr14:21149995-21150006
38	RELA	chr14:21148717-21152891	GM15510	blood:	n/a	n/a
39	RCOR1	chr14:21149441-21152885	Hela-S3	cervix:	n/a	n/a
40	YY1	chr14:21149694-21150477	GM12891	blood:	n/a	n/a
41	ZKSCAN1	chr14:21149364-21151785	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr14:21150025-21151528	MCF-7	breast:	n/a	n/a
43	MAX	chr14:21149779-21151566	HepG2	liver:	n/a	n/a
44	ATF3	chr14:21149474-21150336	A549	lung:	n/a	n/a
45	POLR2A	chr14:21150055-21151704	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr14:21150277-21151391	U87	brain:	n/a	n/a
47	MXI1	chr14:21149362-21150448	H1-hESC	embryonic stem cell:	n/a	n/a
48	ELF1	chr14:21149579-21150438	HepG2	liver:	n/a	n/a
49	ELK1	chr14:21149578-21152706	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr14:21149615-21151607	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21150255-21150305	Jurkat	blood:	n/a
2	chr14:21150255-21150305	AG09319	gingival:	n/a
3	chr14:21150255-21150305	HAEpiC	amniotic membrane:	n/a
4	chr14:21150255-21150305	HEK293	kidney:	embryo
5	chr14:21150255-21150305	LNCaP	prostate:	n/a
6	chr14:21150255-21150305	AG09309	skin:	n/a
7	chr14:21150255-21150305	HL-60	blood:	n/a
8	chr14:21150255-21150305	CMK	blood:	n/a
9	chr14:21150255-21150305	A549	lung:	n/a
10	chr14:21150255-21150305	PFSK-1	brain:	n/a
11	chr14:21150255-21150305	Caco-2	colon:	n/a
12	chr14:21150255-21150305	U87	brain:	n/a
13	chr14:21150255-21150305	BE2_C	brain:	n/a
14	chr14:21150255-21150305	ProgFib	skin:	n/a
15	chr14:21150255-21150305	GM12878	blood:	n/a
16	chr14:21150255-21150305	HPAEpiC	pulmonary alveolar:	n/a
17	chr14:21150255-21150305	K562	blood:	n/a
18	chr14:21150255-21150305	HIPEpiC	eye:	n/a
19	chr14:21150255-21150305	HRCEpiC	kidney:	n/a
20	chr14:21150255-21150305	BJ	skin:	n/a
21	chr14:21150255-21150305	NHDF-neo	bronchial:	n/a
22	chr14:21150255-21150305	NHBE	bronchial:	n/a
23	chr14:21150255-21150305	PANC-1	pancreas:	n/a
24	chr14:21150255-21150305	HEEpiC	esophagus:	n/a
25	chr14:21150255-21150305	ECC-1	luminal epithelium:	n/a
26	chr14:21150255-21150305	H1-hESC	embryonic stem cell:	embryo
27	chr14:21150255-21150305	NB4	blood:	n/a
28	chr14:21150255-21150305	GM12892	blood:	n/a
29	chr14:21150255-21150305	HCM	heart:	n/a
30	chr14:21150255-21150305	RPTEC	kidney:	n/a
31	chr14:21150255-21150305	MCF-7	breast:	n/a
32	chr14:21150255-21150305	ovcar-3	ovarian:	n/a
33	chr14:21150255-21150305	HCPEpiC	choroid plexus:	n/a
34	chr14:21150255-21150305	IMR90	lung:	fetal
35	chr14:21150255-21150305	T-47D	breast:	n/a
36	chr14:21150255-21150305	HNPCEpiC	eye:	n/a
37	chr14:21150255-21150305	AG04450	lung:	fetal
38	chr14:21150255-21150305	MCF10A-Er-Src	breast:	n/a
39	chr14:21150255-21150305	PrEC	prostate:	n/a
40	chr14:21150255-21150305	GM19239	blood:	n/a
41	chr14:21150255-21150305	SKMC	muscle:	n/a
42	chr14:21150255-21150305	HRPEpiC	eye:	n/a
43	chr14:21150255-21150305	SK-N-MC	brain:	n/a
44	chr14:21150255-21150305	HRE	kidney:	n/a
45	chr14:21150255-21150305	SAEC	small airway:	n/a
46	chr14:21150255-21150305	NH-A	brain:	n/a
47	chr14:21150255-21150305	AG10803	skin:	n/a
48	chr14:21150255-21150305	Hela-S3	cervix:	n/a
49	chr14:21150255-21150305	HepG2	liver:	n/a
50	chr14:21150255-21150305	Hepatocyte	liver:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21143345..21145949-chr14:21148305..21151723,3	K562	blood:
2	chr14:21148377..21150828-chr14:21152257..21154298,2	K562	blood:
3	chr14:21126940..21128460-chr14:21149474..21151016,2	K562	blood:
4	chr14:21150225..21151215-chr4:40058658..40059296,2	Hela-S3	cervix:
5	chr14:21149536..21151874-chr14:21316359..21319213,4	MCF-7	breast:
6	chr14:21099527..21101254-chr14:21148948..21151992,3	K562	blood:
7	chr14:20810776..20813078-chr14:21149132..21154522,5	MCF-7	breast:
8	chr14:20800751..20802597-chr14:21149805..21151522,2	MCF-7	breast:
9	chr14:20810085..20811615-chr14:21149711..21153396,3	K562	blood:
10	chr14:21146704..21148496-chr14:21149276..21151704,2	MCF-7	breast:
11	chr14:21099258..21101515-chr14:21148252..21151491,3	K562	blood:
12	chr14:21149967..21150520-chr19:58694563..58695191,2	Hela-S3	cervix:
13	chr14:20929088..20932258-chr14:21149898..21152677,3	K562	blood:
14	chr14:21109934..21111510-chr14:21149341..21151187,2	MCF-7	breast:
15	chr14:21148448..21151342-chr14:21493048..21494909,2	K562	blood:
16	chr14:20936078..20938749-chr14:21149833..21151391,2	MCF-7	breast:
17	chr14:21120475..21122156-chr14:21149864..21151948,2	MCF-7	breast:
18	chr14:20809950..20813130-chr14:21150094..21153288,8	MCF-7	breast:
19	chr14:20810111..20813161-chr14:21149711..21152468,4	K562	blood:
20	chr14:21118477..21120025-chr14:21149832..21151560,2	MCF-7	breast:
21	chr11:62605634..62607611-chr14:21149773..21151741,2	MCF-7	breast:
22	chr14:21124051..21127045-chr14:21149857..21151659,3	MCF-7	breast:
23	chr14:21076925..21085904-chr14:21148436..21153030,11	MCF-7	breast:
24	chr14:21150159..21151755-chr14:21571198..21573332,2	K562	blood:
25	chr14:21093202..21096224-chr14:21149755..21152190,4	MCF-7	breast:
26	chr14:21150281..21153004-chr14:21155152..21158000,3	K562	blood:

No data

Variant related genes	Relation type
ANG	TF binding region
ENSG00000259171	TF binding region
RNASE4	TF binding region
RNASE4	CpG island
ENSG00000259171	CpG island
ANG	CpG island
ENSG00000165804	Chromatin interaction
ENSG00000259171	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000171606	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000100814	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000205794	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000239327	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000199461	Chromatin interaction
ENSG00000173464	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000198805	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12100586	1.00[EUR][1000 genomes]
rs12100598	1.00[EUR][1000 genomes]
rs12100800	1.00[EUR][1000 genomes]
rs12100933	1.00[EUR][1000 genomes]
rs12100943	1.00[EUR][1000 genomes]
rs12101090	1.00[EUR][1000 genomes]
rs12101096	1.00[EUR][1000 genomes]
rs12101201	1.00[EUR][1000 genomes]
rs12101227	1.00[EUR][1000 genomes]
rs17092013	1.00[EUR][1000 genomes]
rs17112928	1.00[EUR][1000 genomes]
rs17112943	1.00[EUR][1000 genomes]
rs17112951	1.00[EUR][1000 genomes]
rs17113273	1.00[EUR][1000 genomes]
rs2228653	1.00[EUR][1000 genomes]
rs55747318	1.00[EUR][1000 genomes]
rs55795834	1.00[EUR][1000 genomes]
rs55917840	1.00[EUR][1000 genomes]
rs55980661	1.00[EUR][1000 genomes]
rs55987734	1.00[EUR][1000 genomes]
rs56294788	1.00[EUR][1000 genomes]
rs57630159	1.00[EUR][1000 genomes]
rs58957711	1.00[EUR][1000 genomes]
rs59045719	1.00[EUR][1000 genomes]
rs59612537	1.00[EUR][1000 genomes]
rs59800190	1.00[EUR][1000 genomes]
rs60239610	1.00[EUR][1000 genomes]
rs60292704	1.00[EUR][1000 genomes]
rs60508855	1.00[EUR][1000 genomes]
rs60971353	1.00[EUR][1000 genomes]
rs61626479	1.00[EUR][1000 genomes]
rs7143903	1.00[EUR][1000 genomes]
rs7146539	1.00[EUR][1000 genomes]
rs7152653	1.00[EUR][1000 genomes]
rs7155848	1.00[EUR][1000 genomes]
rs7160116	1.00[EUR][1000 genomes]
rs7161484	1.00[EUR][1000 genomes]
rs73571203	1.00[EUR][1000 genomes]
rs73571209	1.00[EUR][1000 genomes]
rs73571210	1.00[EUR][1000 genomes]
rs73571212	1.00[EUR][1000 genomes]
rs73571302	1.00[EUR][1000 genomes]
rs74034305	1.00[EUR][1000 genomes]
rs74034308	1.00[EUR][1000 genomes]
rs74034309	1.00[EUR][1000 genomes]
rs74037158	1.00[EUR][1000 genomes]
rs74037159	1.00[EUR][1000 genomes]
rs74037160	1.00[EUR][1000 genomes]
rs8003273	1.00[EUR][1000 genomes]
rs8010422	1.00[EUR][1000 genomes]
rs8018216	1.00[EUR][1000 genomes]
rs8022560	1.00[EUR][1000 genomes]
rs8022642	1.00[EUR][1000 genomes]
rs8022887	1.00[EUR][1000 genomes]
rs8022889	1.00[EUR][1000 genomes]
rs8022924	1.00[EUR][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	chr14:21148000-21150600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr14:21148000-21153400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:21148200-21150600	Flanking Active TSS	GM12878-XiMat	blood
4	chr14:21148400-21153800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:21148400-21155000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:21148600-21150400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr14:21148600-21150600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr14:21148600-21150800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr14:21148600-21150800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr14:21148600-21152200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:21148600-21153000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr14:21148600-21153400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:21148600-21153600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr14:21148800-21150600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:21148800-21150600	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr14:21148800-21151000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr14:21148800-21153800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr14:21148800-21153800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:21148800-21155400	Bivalent/Poised TSS	HepG2	liver
20	chr14:21149000-21150400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr14:21149000-21150400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr14:21149000-21150600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr14:21149000-21150600	Flanking Active TSS	Fetal Thymus	thymus
24	chr14:21149000-21150600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr14:21149000-21150600	Flanking Active TSS	HUVEC	blood vessel
26	chr14:21149000-21150800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr14:21149000-21150800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:21149000-21150800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr14:21149000-21152000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:21149000-21152600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:21149000-21153200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:21149000-21153400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:21149000-21153600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr14:21149000-21153600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:21149000-21153800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr14:21149000-21154000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr14:21149200-21150800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr14:21149200-21150800	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr14:21149200-21152600	Active TSS	Pancreas	Pancrea
40	chr14:21149200-21153200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr14:21149200-21153400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:21149200-21153400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:21149200-21153400	Active TSS	Fetal Kidney	kidney
44	chr14:21149200-21153400	Active TSS	Placenta Amnion	Placenta Amnion
45	chr14:21149200-21153400	Active TSS	Right Ventricle	heart
46	chr14:21149200-21153600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:21149200-21153600	Active TSS	Esophagus	oesophagus
48	chr14:21149200-21153600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr14:21149200-21153600	Active TSS	Left Ventricle	heart
50	chr14:21149200-21154000	Active TSS	HUES6 Cell Line	embryonic stem cell

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