Variant report

Variant	rs368180713
Chromosome Location	chr14:35016892-35016893
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	SP1	chr14:35015043-35017037	A549	lung:	n/a	chr14:35015812-35015826 chr14:35015830-35015844
2	POLR2A	chr14:35015356-35016991	SK-N-SH	brain:	n/a	n/a
3	POU2F2	chr14:35014903-35017032	GM12891	blood:	n/a	chr14:35014976-35014988 chr14:35015820-35015832
4	NFIC	chr14:35015144-35016958	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr14:35015418-35016924	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr14:35015416-35016999	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr14:35015331-35018141	Hela-S3	cervix:	n/a	n/a
8	FOSL2	chr14:35014785-35016927	HepG2	liver:	n/a	chr14:35014988-35014997
9	FOSL2	chr14:35014789-35016963	HepG2	liver:	n/a	chr14:35014988-35014997
10	PAX5	chr14:35015462-35017015	GM12878	blood:	n/a	chr14:35015730-35015739 chr14:35016380-35016389
11	POLR2A	chr14:35015451-35016990	A549	lung:	n/a	n/a
12	HEY1	chr14:35014788-35017330	HepG2	liver:	n/a	n/a
13	NR3C1	chr14:35015565-35016922	A549	lung:	n/a	n/a
14	POLR2A	chr14:35015454-35017030	GM12891	blood:	n/a	n/a
15	POLR2A	chr14:35014980-35017400	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:35015406-35017047	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr14:35015277-35017300	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr14:35015489-35016939	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr14:35015562-35017004	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr14:35014790-35017007	HepG2	liver:	n/a	chr14:35014988-35014997
21	POLR2A	chr14:35015442-35017434	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr14:35015459-35016969	A549	lung:	n/a	n/a
23	POLR2A	chr14:35015336-35017352	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr14:35015036-35017016	GM12891	blood:	n/a	n/a
25	POLR2A	chr14:35014951-35017181	SK-N-MC	brain:	n/a	n/a
26	POU2F2	chr14:35014858-35017323	GM12878	blood:	n/a	chr14:35014976-35014988 chr14:35015820-35015832
27	POLR2A	chr14:35015246-35018299	MCF-7	breast:	n/a	n/a
28	POLR2A	chr14:35015187-35017590	MCF-7	breast:	n/a	n/a
29	POU2F2	chr14:35015322-35017034	GM12891	blood:	n/a	chr14:35015820-35015832
30	JUND	chr14:35015509-35016917	A549	lung:	n/a	n/a
31	POU2F2	chr14:35015320-35017006	GM12878	blood:	n/a	chr14:35015820-35015832
32	IRF4	chr14:35015303-35017005	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:35015365-35017242	U87	brain:	n/a	n/a
34	ZBTB33	chr14:35015654-35016998	GM12878	blood:	n/a	n/a
35	SP1	chr14:35014755-35016996	HepG2	liver:	n/a	chr14:35015812-35015826 chr14:35015830-35015844 chr14:35014975-35014989
36	POLR2A	chr14:35015077-35017083	A549	lung:	n/a	n/a
37	SIN3AK20	chr14:35014795-35017016	HepG2	liver:	n/a	n/a
38	POLR2A	chr14:35015115-35017005	ProgFib	skin:	n/a	n/a
39	POLR2A	chr14:35015009-35016982	HepG2	liver:	n/a	n/a
40	POLR2A	chr14:35015207-35018135	MCF-7	breast:	n/a	n/a
41	MYBL2	chr14:35014698-35016961	HepG2	liver:	n/a	n/a
42	POLR2A	chr14:35014961-35016994	HepG2	liver:	n/a	n/a
43	POLR2A	chr14:35014840-35016988	K562	blood:	n/a	n/a
44	EBF1	chr14:35014982-35016939	GM12878	blood:	n/a	chr14:35016387-35016397 chr14:35015279-35015288 chr14:35016387-35016396 chr14:35015277-35015290 chr14:35016387-35016396 chr14:35016385-35016398
45	PAX5	chr14:35015210-35016986	GM12878	blood:	n/a	chr14:35015730-35015739 chr14:35016380-35016389
46	RXRA	chr14:35014812-35016955	HepG2	liver:	n/a	chr14:35016380-35016389
47	RXRA	chr14:35014788-35016923	HepG2	liver:	n/a	chr14:35016380-35016389
48	POLR2A	chr14:35015247-35017074	GM12892	blood:	n/a	n/a
49	SP1	chr14:35015150-35016894	GM12878	blood:	n/a	chr14:35015812-35015826 chr14:35015830-35015844
50	HEY1	chr14:35015331-35017412	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:35016499..35019288-chr14:35182699..35184219,2	MCF-7	breast:
2	chr14:35016160..35018954-chr14:35320492..35322117,2	MCF-7	breast:
3	chr14:35016883..35018423-chr14:35574764..35577501,2	MCF-7	breast:
4	chr14:35016520..35018363-chr6:90121191..90123487,2	MCF-7	breast:
5	chr14:35004626..35011116-chr14:35015634..35020787,10	MCF-7	breast:
6	chr1:149223853..149225389-chr14:35015592..35017210,2	MCF-7	breast:
7	chr14:35016452..35018611-chr14:35133910..35135545,2	K562	blood:
8	chr14:34930543..34933153-chr14:35015586..35017251,2	MCF-7	breast:
9	chr14:35015687..35019377-chr17:57914775..57917596,3	MCF-7	breast:
10	chr14:35016252..35019435-chr14:35175626..35179365,3	MCF-7	breast:
11	chr14:35015757..35018418-chr4:39977549..39979834,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258612	TF binding region
ENSG00000165389	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000121892	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000025039	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000165410	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1042294	chr14:34974774-35017859	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1053274	chr14:34980184-35020973	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	esv2761826	chr14:35009633-35027508	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
10	nsv977452	chr14:35016277-35017175	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv9132	chr14:35016506-35019740	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35009000-35033000	Weak transcription	Gastric	stomach
2	chr14:35009600-35022200	Weak transcription	Fetal Intestine Large	intestine
3	chr14:35009600-35023800	Weak transcription	Right Atrium	heart
4	chr14:35009800-35017200	Weak transcription	Pancreas	Pancrea
5	chr14:35013200-35017200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:35016800-35017000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:35016800-35017000	Enhancers	Hela-S3	cervix
8	chr14:35016800-35017000	Enhancers	Monocytes-CD14+_RO01746	blood

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