Variant report

Variant	nsv1044445
Chromosome Location	chr14:45606779-45807171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2200)
CpG islands
(count:1224)
Chromatin interactive
region (count:74)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2200 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:45756958-45756994	K562	blood:	n/a	n/a
2	ARID3A	chr14:45722356-45723128	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:45722305-45722539	K562	blood:	n/a	n/a
4	ARID3A	chr14:45719321-45719834	K562	blood:	n/a	n/a
5	ARID3A	chr14:45607125-45607283	K562	blood:	n/a	n/a
6	ARID3A	chr14:45721346-45721411	K562	blood:	n/a	n/a
7	ATF1	chr14:45719315-45719720	K562	blood:	n/a	n/a
8	ATF2	chr14:45720949-45721641	GM12878	blood:	n/a	n/a
9	ATF2	chr14:45721046-45721503	GM12878	blood:	n/a	n/a
10	ATF2	chr14:45654284-45654680	GM12878	blood:	n/a	n/a
11	ATF2	chr14:45654344-45654869	GM12878	blood:	n/a	n/a
12	ATF2	chr14:45722376-45723046	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr14:45722078-45723054	GM12878	blood:	n/a	n/a
14	ATF2	chr14:45722269-45723075	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr14:45722322-45723116	GM12878	blood:	n/a	n/a
16	ATF3	chr14:45722453-45723019	A549	lung:	n/a	n/a
17	ATF3	chr14:45722329-45723000	A549	lung:	n/a	n/a
18	ATF3	chr14:45741418-45741630	K562	blood:	n/a	n/a
19	ATF3	chr14:45722372-45722682	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr14:45722065-45723061	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr14:45625307-45625620	GM12878	blood:	n/a	n/a
22	BATF	chr14:45625249-45625630	GM12878	blood:	n/a	n/a
23	BATF	chr14:45721069-45721411	GM12878	blood:	n/a	n/a
24	BATF	chr14:45654320-45654609	GM12878	blood:	n/a	chr14:45654495-45654506
25	BATF	chr14:45614575-45614771	GM12878	blood:	n/a	n/a
26	BATF	chr14:45721023-45721508	GM12878	blood:	n/a	n/a
27	BATF	chr14:45654382-45654581	GM12878	blood:	n/a	chr14:45654495-45654506
28	BCL11A	chr14:45722473-45722840	GM12878	blood:	n/a	n/a
29	BCL11A	chr14:45721145-45721473	GM12878	blood:	n/a	n/a
30	BCL3	chr14:45722203-45723416	A549	lung:	n/a	n/a
31	BCL3	chr14:45722180-45723071	A549	lung:	n/a	n/a
32	BCLAF1	chr14:45737709-45738137	GM12878	blood:	n/a	n/a
33	BCLAF1	chr14:45721060-45721557	GM12878	blood:	n/a	n/a
34	BCLAF1	chr14:45722194-45723134	GM12878	blood:	n/a	n/a
35	BCLAF1	chr14:45722060-45723125	GM12878	blood:	n/a	n/a
36	BHLHE40	chr14:45737784-45738081	GM12878	blood:	n/a	n/a
37	BHLHE40	chr14:45723324-45723381	GM12878	blood:	n/a	n/a
38	BHLHE40	chr14:45722265-45722799	K562	blood:	n/a	n/a
39	BHLHE40	chr14:45619850-45619857	K562	blood:	n/a	n/a
40	BHLHE40	chr14:45718701-45719749	GM12878	blood:	n/a	n/a
41	BHLHE40	chr14:45722198-45723003	HepG2	liver:	n/a	n/a
42	BHLHE40	chr14:45721733-45721803	K562	blood:	n/a	n/a
43	BHLHE40	chr14:45722164-45723101	GM12878	blood:	n/a	n/a
44	BHLHE40	chr14:45721077-45721534	GM12878	blood:	n/a	n/a
45	BRCA1	chr14:45722007-45723004	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr14:45722287-45722946	GM12878	blood:	n/a	n/a
47	BRCA1	chr14:45681497-45681782	H1-hESC	embryonic stem cell:	n/a	n/a
48	BRCA1	chr14:45722387-45723098	HepG2	liver:	n/a	n/a
49	CBX3	chr14:45751010-45751209	K562	blood:	n/a	n/a
50	CBX3	chr14:45721964-45723196	HCT-116	colon:	n/a	n/a

(count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45722745-45722795	ovcar-3	ovarian:	n/a
2	chr14:45719962-45720012	PrEC	prostate:	n/a
3	chr14:45607331-45607381	GM12891	blood:	n/a
4	chr14:45619710-45619760	HCM	heart:	n/a
5	chr14:45722745-45722795	ovcar-3	ovarian:	n/a
6	chr14:45719962-45720012	PrEC	prostate:	n/a
7	chr14:45607331-45607381	GM12891	blood:	n/a
8	chr14:45619710-45619760	HCM	heart:	n/a
9	chr14:45608106-45608156	LNCaP	prostate:	n/a
10	chr14:45722043-45722093	ovcar-3	ovarian:	n/a
11	chr14:45722617-45722667	HMEC	breast:	n/a
12	chr14:45619710-45619760	IMR90	lung:	fetal
13	chr14:45722704-45722754	NH-A	brain:	n/a
14	chr14:45722532-45722582	HEEpiC	esophagus:	n/a
15	chr14:45722711-45722761	HRPEpiC	eye:	n/a
16	chr14:45722704-45722754	AG10803	skin:	n/a
17	chr14:45719962-45720012	HRPEpiC	eye:	n/a
18	chr14:45722617-45722667	AG04450	lung:	fetal
19	chr14:45722289-45722339	HMEC	breast:	n/a
20	chr14:45722438-45722488	SKMC	muscle:	n/a
21	chr14:45722532-45722582	PrEC	prostate:	n/a
22	chr14:45722289-45722339	SK-N-MC	brain:	n/a
23	chr14:45723353-45723403	Caco-2	colon:	n/a
24	chr14:45608106-45608156	BE2_C	brain:	n/a
25	chr14:45722617-45722667	HAEpiC	amniotic membrane:	n/a
26	chr14:45722987-45723037	BE2_C	brain:	n/a
27	chr14:45619710-45619760	HCPEpiC	choroid plexus:	n/a
28	chr14:45722721-45722771	Jurkat	blood:	n/a
29	chr14:45722532-45722582	AG04449	skin:	fetal
30	chr14:45722987-45723037	NB4	blood:	n/a
31	chr14:45722622-45722672	HRPEpiC	eye:	n/a
32	chr14:45722622-45722672	HCT-116	colon:	n/a
33	chr14:45608106-45608156	HRE	kidney:	n/a
34	chr14:45722987-45723037	K562	blood:	n/a
35	chr14:45722438-45722488	AG04450	lung:	fetal
36	chr14:45725455-45725505	MCF10A-Er-Src	breast:	n/a
37	chr14:45722987-45723037	GM06990	blood:	n/a
38	chr14:45723353-45723403	MCF-7	breast:	n/a
39	chr14:45608106-45608156	HCT-116	colon:	n/a
40	chr14:45722745-45722795	K562	blood:	n/a
41	chr14:45719962-45720012	SKMC	muscle:	n/a
42	chr14:45722043-45722093	AG10803	skin:	n/a
43	chr14:45722617-45722667	BE2_C	brain:	n/a
44	chr14:45722704-45722754	HAEpiC	amniotic membrane:	n/a
45	chr14:45722711-45722761	ProgFib	skin:	n/a
46	chr14:45722745-45722795	HEEpiC	esophagus:	n/a
47	chr14:45725455-45725505	HUVEC	blood vessel:	n/a
48	chr14:45681130-45681180	HPAEpiC	pulmonary alveolar:	n/a
49	chr14:45722704-45722754	GM12878	blood:	n/a
50	chr14:45693776-45693826	HRE	kidney:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:45679707..45681443-chr14:45682954..45685431,2	MCF-7	breast:
2	chr14:45701019..45703145-chr14:45705910..45707479,2	MCF-7	breast:
3	chr14:45625132..45625884-chr14:45737446..45738063,2	MCF-7	breast:
4	chr14:45644589..45646805-chr14:45647065..45649190,2	MCF-7	breast:
5	chr14:45602054..45606945-chr14:45719959..45724414,9	MCF-7	breast:
6	chr14:45382903..45383965-chr14:45737675..45738717,4	MCF-7	breast:
7	chr14:45678908..45681403-chr14:45684566..45687731,3	K562	blood:
8	chr14:45656819..45659506-chr14:45660040..45662429,2	MCF-7	breast:
9	chr14:45705828..45707853-chr14:45712067..45713833,2	MCF-7	breast:
10	chr14:45678908..45681403-chr14:45684566..45687731,3	K562	blood:
11	chr14:45722854..45723434-chr16:58133168..58133726,2	Hela-S3	cervix:
12	chr14:45646929..45649462-chr14:45654558..45656763,2	MCF-7	breast:
13	chr14:45687729..45690041-chr14:45727283..45730126,2	MCF-7	breast:
14	chr14:45728008..45730307-chr14:45736451..45738128,2	MCF-7	breast:
15	chr14:45428929..45435608-chr14:45601966..45608462,12	MCF-7	breast:
16	chr14:45383078..45384611-chr14:45736865..45739302,2	MCF-7	breast:
17	chr14:45364937..45368444-chr14:45721075..45725396,9	MCF-7	breast:
18	chr14:45601339..45606570-chr14:45722040..45724234,5	MCF-7	breast:
19	chr14:45603146..45606664-chr14:45606745..45609948,6	MCF-7	breast:
20	chr14:45656403..45658516-chr14:45660944..45662467,2	K562	blood:
21	chr14:45704719..45706830-chr14:45720747..45723150,2	MCF-7	breast:
22	chr12:57039223..57039923-chr14:45722606..45723303,3	Hela-S3	cervix:
23	chr14:45686107..45687762-chr14:45690823..45693059,2	MCF-7	breast:
24	chr14:45701847..45703730-chr14:45720111..45722706,2	MCF-7	breast:
25	chr14:45774667..45776638-chr14:45777456..45779936,2	MCF-7	breast:
26	chr14:45625132..45625884-chr14:45737446..45738063,2	MCF-7	breast:
27	chr14:45721810..45725859-chr14:45742099..45745950,4	MCF-7	breast:
28	chr14:45610857..45613853-chr14:45722089..45724947,2	MCF-7	breast:
29	chr14:45722237..45722750-chr18:3653037..3653537,2	HCT-116	colon:
30	chr14:45705828..45707853-chr14:45712067..45713833,2	MCF-7	breast:
31	chr14:45602127..45604753-chr14:45663280..45664995,2	K562	blood:
32	chr14:45642220..45642925-chr3:15744255..15744957,2	MCF-7	breast:
33	chr14:45427536..45430475-chr14:45702216..45704003,2	MCF-7	breast:
34	chr14:45720720..45725312-chr14:45736349..45740437,5	MCF-7	breast:
35	chr14:45701019..45703145-chr14:45705910..45707479,2	MCF-7	breast:
36	chr14:45679707..45681443-chr14:45682954..45685431,2	MCF-7	breast:
37	chr14:45429725..45432587-chr14:45720437..45723992,3	MCF-7	breast:
38	chr14:45710936..45712506-chr14:45717032..45718785,2	K562	blood:
39	chr14:45722872..45725627-chr6:151936857..151939807,2	MCF-7	breast:
40	chr14:45646929..45649462-chr14:45654558..45656763,2	MCF-7	breast:
41	chr14:45710340..45712436-chr14:45717199..45718785,2	K562	blood:
42	chr14:45553320..45554876-chr14:45714486..45717051,2	MCF-7	breast:
43	chr14:45722471..45723281-chr15:75743983..75744975,2	Hela-S3	cervix:
44	chr14:45365477..45369212-chr14:45721451..45724440,3	MCF-7	breast:
45	chr14:45773220..45776127-chr14:45776332..45778274,2	K562	blood:
46	chr14:45721810..45725859-chr14:45742099..45745950,4	MCF-7	breast:
47	chr14:45602011..45605313-chr14:45605492..45607351,3	K562	blood:
48	chr14:45721734..45722708-chr16:28565152..28565667,2	Hela-S3	cervix:
49	chr14:45694223..45697049-chr14:45698740..45700285,2	MCF-7	breast:
50	chr14:45602054..45606945-chr14:45719959..45724414,9	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP3-5	chr14:45700344-45700644	NONHSAT036648
2	lnc-FKBP3-5	chr14:45696890-45697017	NONHSAT036648
3	lnc-FANCM-8	chr14:45759239-45759589	NONHSAT036654
4	lnc-FANCM-8	chr14:45759448-45759483	NONHSAT036653
5	lnc-FKBP3-6	chr14:45711237-45711589	NONHSAT036649
6	lnc-FKBP3-4	chr14:45673583-45673656	NONHSAT036647
7	lnc-FKBP3-4	chr14:45673602-45673656	NONHSAT036646
8	lnc-FKBP3-6	chr14:45710671-45711073	NONHSAT036649
9	lnc-FKBP3-4	chr14:45675286-45675647	NONHSAT036646
10	lnc-FANCM-8	chr14:45759144-45759367	NONHSAT036652
11	lnc-FKBP3-4	chr14:45675286-45675477	NONHSAT036647
12	lnc-FANCM-8	chr14:45759448-45759479	NONHSAT036652
13	lnc-FANCM-8	chr14:45759209-45759392	NONHSAT036653
14	lnc-FKBP3-4	chr14:45673040-45673415	NONHSAT036646

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	C14orf106	hsa-miR-421	chr14:45672809-45672831

Variant related genes	Relation type
FKBP3	TF binding region
DNAJC19P9	TF binding region
RNU6-552P	TF binding region
FANCM	TF binding region
MIS18BP1	TF binding region
FKBP3	CpG island
DNAJC19P9	CpG island
RNU6-552P	CpG island
FANCM	CpG island
MIS18BP1	CpG island
ENSG00000207422	chromatin interactions
ENSG00000185246	chromatin interactions
ENSG00000187790	chromatin interactions
ENSG00000179454	chromatin interactions
ENSG00000179476	chromatin interactions
ENSG00000199739	chromatin interactions
ENSG00000100442	chromatin interactions
ENSG00000176476	chromatin interactions
ENSG00000110955	chromatin interactions
ENSG00000169375	chromatin interactions
ENSG00000129534	chromatin interactions
ENSG00000198718	chromatin interactions
ENSG00000258633	chromatin interactions
ENSG00000266401	chromatin interactions

Extended variants
information (count: 5500 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:5500 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571868876	chr14:45606829-45606830	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs369979862	chr14:45606886-45606887	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs539286026	chr14:45606888-45606889	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs186225423	chr14:45606927-45606928	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs188986605	chr14:45606952-45606953	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs542802924	chr14:45607011-45607012	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs143747577	chr14:45607053-45607054	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs572556158	chr14:45607060-45607061	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs539860381	chr14:45607103-45607104	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs116807795	chr14:45607144-45607145	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs531994429	chr14:45607151-45607152	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs552888837	chr14:45607154-45607155	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs544521484	chr14:45607162-45607163	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs563288471	chr14:45607163-45607164	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs139353488	chr14:45607164-45607165	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs562638261	chr14:45607171-45607172	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs559139972	chr14:45607191-45607192	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs529942664	chr14:45607206-45607207	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs145590256	chr14:45607216-45607217	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs548366921	chr14:45607300-45607301	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs567764635	chr14:45607347-45607348	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs557045208	chr14:45607353-45607354	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs73340655	chr14:45607386-45607387	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547032797	chr14:45607452-45607453	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs148141439	chr14:45607465-45607466	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs73340659	chr14:45607524-45607525	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs559060556	chr14:45607608-45607609	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs375620639	chr14:45607635-45607636	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs557674876	chr14:45607675-45607676	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs28406098	chr14:45607677-45607678	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536450452	chr14:45607678-45607679	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs573097857	chr14:45607682-45607683	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs554711582	chr14:45607790-45607791	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs141872196	chr14:45607808-45607809	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs539971921	chr14:45607840-45607841	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs145078950	chr14:45607859-45607860	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs576821666	chr14:45607864-45607865	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs534695124	chr14:45607977-45607978	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs543857540	chr14:45608010-45608011	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs34783770	chr14:45608089-45608090	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs562813725	chr14:45608106-45608107	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs28370281	chr14:45608107-45608108	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs542066941	chr14:45608209-45608210	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs561956256	chr14:45608274-45608275	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs530773730	chr14:45608283-45608284	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs369659620	chr14:45608286-45608287	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs560355822	chr14:45608321-45608322	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs138812529	chr14:45608361-45608362	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs373098614	chr14:45608373-45608374	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs547101007	chr14:45608388-45608389	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2668 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45600600-45608600	Active TSS	GM12878-XiMat	blood
2	chr14:45602000-45607400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:45602000-45607400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:45602000-45608200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:45602200-45607200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:45602200-45607600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:45602200-45607600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:45602200-45608000	Active TSS	K562	blood
9	chr14:45602400-45606800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:45602600-45606800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr14:45602600-45606800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:45602600-45606800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr14:45602600-45607000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr14:45602600-45607400	Active TSS	NHLF	lung
15	chr14:45602800-45607200	Active TSS	Fetal Thymus	thymus
16	chr14:45602800-45608000	Active TSS	NHDF-Ad	bronchial
17	chr14:45603400-45607400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:45605400-45606800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr14:45605400-45607000	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr14:45605400-45607000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr14:45605400-45607400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:45605600-45606800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr14:45605600-45607000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:45605600-45607400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr14:45605600-45607400	Flanking Active TSS	HUVEC	blood vessel
26	chr14:45605800-45606800	Flanking Active TSS	Fetal Lung	lung
27	chr14:45605800-45607200	Flanking Active TSS	NH-A	brain
28	chr14:45605800-45607200	Flanking Active TSS	Osteobl	bone
29	chr14:45605800-45607400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr14:45605800-45607400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:45605800-45613800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:45605800-45613800	Weak transcription	Gastric	stomach
33	chr14:45605800-45613800	Weak transcription	Lung	lung
34	chr14:45605800-45618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:45606000-45607000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr14:45606000-45607000	Enhancers	Brain Cingulate Gyrus	brain
37	chr14:45606000-45607000	Enhancers	Brain Hippocampus Middle	brain
38	chr14:45606000-45607000	Flanking Active TSS	Fetal Heart	heart
39	chr14:45606000-45607200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:45606000-45607400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:45606000-45607400	Enhancers	Primary B cells from peripheral blood	blood
42	chr14:45606000-45607400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr14:45606000-45607400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr14:45606000-45607400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr14:45606000-45608200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:45606000-45608200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:45606000-45614000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:45606000-45618400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:45606000-45618600	Weak transcription	Left Ventricle	heart
50	chr14:45606000-45618800	Weak transcription	Placenta	Placenta

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