Variant report

Variant	nsv902451
Chromosome Location	chr14:105624693-105690092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2694)
CpG islands
(count:4093)
Chromatin interactive
region (count:169)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2694 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105646970-105647099	K562	blood:	n/a	n/a
2	ARID3A	chr14:105635551-105635751	K562	blood:	n/a	n/a
3	ATF3	chr14:105647476-105647754	K562	blood:	n/a	n/a
4	ATF3	chr14:105665582-105665772	K562	blood:	n/a	n/a
5	ATF3	chr14:105647408-105647698	GM12878	blood:	n/a	n/a
6	ATF3	chr14:105647527-105647695	GM12878	blood:	n/a	n/a
7	ATF3	chr14:105633815-105634024	K562	blood:	n/a	n/a
8	BACH1	chr14:105663077-105663199	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr14:105634160-105634415	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr14:105650175-105650256	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr14:105669384-105669662	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr14:105647431-105647661	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr14:105635446-105635818	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr14:105662435-105662753	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr14:105681677-105681921	GM12878	blood:	n/a	n/a
16	BCL3	chr14:105667847-105668627	A549	lung:	n/a	chr14:105667887-105667896 chr14:105668189-105668198 chr14:105667888-105667897
17	BCL3	chr14:105668099-105668659	A549	lung:	n/a	chr14:105668189-105668198
18	BCL3	chr14:105668932-105669779	A549	lung:	n/a	n/a
19	BCL3	chr14:105681691-105682038	GM12878	blood:	n/a	n/a
20	BCL3	chr14:105669015-105669647	A549	lung:	n/a	n/a
21	BCL3	chr14:105670617-105671440	A549	lung:	n/a	n/a
22	BHLHE40	chr14:105633488-105634425	K562	blood:	n/a	chr14:105633626-105633642
23	BHLHE40	chr14:105647446-105647893	K562	blood:	n/a	chr14:105647556-105647572
24	BHLHE40	chr14:105635049-105635625	K562	blood:	n/a	n/a
25	BHLHE40	chr14:105647471-105647910	GM12878	blood:	n/a	chr14:105647556-105647572
26	BHLHE40	chr14:105670862-105671194	HepG2	liver:	n/a	n/a
27	BHLHE40	chr14:105641106-105641239	GM12878	blood:	n/a	n/a
28	BHLHE40	chr14:105673381-105673508	K562	blood:	n/a	n/a
29	BRCA1	chr14:105663594-105663903	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr14:105628806-105629067	HepG2	liver:	n/a	n/a
31	CBX3	chr14:105665434-105665804	K562	blood:	n/a	n/a
32	CBX3	chr14:105635458-105635833	K562	blood:	n/a	n/a
33	CBX3	chr14:105654397-105654814	K562	blood:	n/a	n/a
34	CBX3	chr14:105654534-105654767	K562	blood:	n/a	n/a
35	CCNT2	chr14:105633598-105634394	K562	blood:	n/a	n/a
36	CCNT2	chr14:105672167-105672351	K562	blood:	n/a	n/a
37	CCNT2	chr14:105634944-105635778	K562	blood:	n/a	chr14:105635426-105635435
38	CCNT2	chr14:105665556-105665715	K562	blood:	n/a	n/a
39	CCNT2	chr14:105662979-105663291	K562	blood:	n/a	n/a
40	CCNT2	chr14:105647484-105647639	K562	blood:	n/a	n/a
41	CCNT2	chr14:105673513-105673600	K562	blood:	n/a	n/a
42	CEBPB	chr14:105663593-105663880	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr14:105671141-105671144	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr14:105646836-105646884	K562	blood:	n/a	n/a
45	CEBPB	chr14:105669556-105669564	HepG2	liver:	n/a	n/a
46	CEBPB	chr14:105631426-105631943	ECC-1	luminal epithelium:	n/a	n/a
47	CHD1	chr14:105673884-105674043	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr14:105634239-105634449	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr14:105669344-105669598	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr14:105628806-105628928	HepG2	liver:	n/a	n/a

(count:4093 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105676908-105676958	NH-A	brain:	n/a
2	chr14:105635236-105635286	AG04450	lung:	fetal
3	chr14:105647407-105647457	MCF-7	breast:	n/a
4	chr14:105655178-105655228	AG04449	skin:	fetal
5	chr14:105676791-105676841	SK-N-MC	brain:	n/a
6	chr14:105684005-105684055	Caco-2	colon:	n/a
7	chr14:105676908-105676958	NH-A	brain:	n/a
8	chr14:105635236-105635286	AG04450	lung:	fetal
9	chr14:105647407-105647457	MCF-7	breast:	n/a
10	chr14:105655178-105655228	AG04449	skin:	fetal
11	chr14:105676791-105676841	SK-N-MC	brain:	n/a
12	chr14:105684005-105684055	Caco-2	colon:	n/a
13	chr14:105684005-105684055	AG04450	lung:	fetal
14	chr14:105685616-105685666	GM12892	blood:	n/a
15	chr14:105651786-105651836	HIPEpiC	eye:	n/a
16	chr14:105689749-105689799	ovcar-3	ovarian:	n/a
17	chr14:105635236-105635286	HEEpiC	esophagus:	n/a
18	chr14:105667315-105667365	HCT-116	colon:	n/a
19	chr14:105670754-105670804	ECC-1	luminal epithelium:	n/a
20	chr14:105658685-105658735	HL-60	blood:	n/a
21	chr14:105657710-105657760	HL-60	blood:	n/a
22	chr14:105658685-105658735	Hepatocyte	liver:	n/a
23	chr14:105635239-105635289	GM19239	blood:	n/a
24	chr14:105663093-105663143	NB4	blood:	n/a
25	chr14:105681416-105681466	SAEC	small airway:	n/a
26	chr14:105662805-105662855	GM12892	blood:	n/a
27	chr14:105662787-105662837	Hepatocyte	liver:	n/a
28	chr14:105660876-105660926	U87	brain:	n/a
29	chr14:105649747-105649797	SK-N-MC	brain:	n/a
30	chr14:105685132-105685182	HCM	heart:	n/a
31	chr14:105635081-105635131	HepG2	liver:	n/a
32	chr14:105676846-105676896	Caco-2	colon:	n/a
33	chr14:105635706-105635756	Caco-2	colon:	n/a
34	chr14:105663019-105663069	AoSMC	blood vessel:	n/a
35	chr14:105625577-105625627	RPTEC	kidney:	n/a
36	chr14:105685075-105685125	HMEC	breast:	n/a
37	chr14:105681416-105681466	HPAEpiC	pulmonary alveolar:	n/a
38	chr14:105649747-105649797	HNPCEpiC	eye:	n/a
39	chr14:105662787-105662837	HCF	heart:	n/a
40	chr14:105688412-105688462	HCT-116	colon:	n/a
41	chr14:105685132-105685182	AG10803	skin:	n/a
42	chr14:105648024-105648074	PFSK-1	brain:	n/a
43	chr14:105684005-105684055	SK-N-MC	brain:	n/a
44	chr14:105688412-105688462	HepG2	liver:	n/a
45	chr14:105683798-105683848	GM12892	blood:	n/a
46	chr14:105667508-105667558	Caco-2	colon:	n/a
47	chr14:105685732-105685782	PFSK-1	brain:	n/a
48	chr14:105635706-105635756	SAEC	small airway:	n/a
49	chr14:105663402-105663452	NHBE	bronchial:	n/a
50	chr14:105685660-105685710	SAEC	small airway:	n/a

(count:169 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr14:105674228..105676425-chr14:105677761..105679993,3	K562	blood:
2	chr14:105660748..105662281-chr14:105767050..105768913,2	K562	blood:
3	chr14:105646332..105648438-chr14:105653932..105656621,2	K562	blood:
4	chr14:105663679..105669180-chr14:105669363..105675708,8	K562	blood:
5	chr14:105629335..105630135-chr14:105669031..105669954,2	K562	blood:
6	chr14:105673659..105676252-chr14:105822544..105825252,2	K562	blood:
7	chr14:105668503..105670075-chr14:105733985..105734945,13	MCF-7	breast:
8	chr14:105445649..105448428-chr14:105631488..105633523,2	MCF-7	breast:
9	chr14:105671389..105673472-chr14:105681134..105682646,2	K562	blood:
10	chr14:105670331..105671987-chr14:105672268..105674643,2	K562	blood:
11	chr14:105556509..105557265-chr14:105631240..105632200,2	MCF-7	breast:
12	chr14:105659714..105661407-chr14:105665604..105667882,2	K562	blood:
13	chr14:105660777..105662281-chr14:105668696..105670709,2	K562	blood:
14	chr14:105556904..105557457-chr14:105630667..105631594,2	MCF-7	breast:
15	chr14:105655523..105657045-chr14:105657884..105660647,2	MCF-7	breast:
16	chr14:105670122..105672901-chr14:105693966..105695750,2	K562	blood:
17	chr14:105512170..105512763-chr14:105653793..105654556,2	MCF-7	breast:
18	chr14:105556528..105557420-chr14:105633531..105634669,3	MCF-7	breast:
19	chr14:105667951..105671831-chr14:105672268..105675254,4	K562	blood:
20	chr14:105635244..105636129-chr14:105665708..105667054,3	K562	blood:
21	chr14:105583616..105585913-chr14:105629918..105634007,5	MCF-7	breast:
22	chr14:105647774..105650762-chr14:105651625..105655733,5	MCF-7	breast:
23	chr14:105635176..105636125-chr14:105747875..105748809,5	K562	blood:
24	chr14:105678829..105680411-chr14:105684341..105687261,3	MCF-7	breast:
25	chr14:105650402..105652151-chr14:105657349..105659937,3	MCF-7	breast:
26	chr14:105556568..105557626-chr14:105644344..105645020,4	MCF-7	breast:
27	chr14:105667415..105668351-chr14:105734005..105734857,2	MCF-7	breast:
28	chr14:105667147..105672450-chr14:105672961..105678949,7	MCF-7	breast:
29	chr14:105669002..105670184-chr14:105747515..105748746,6	MCF-7	breast:
30	chr14:105636897..105638962-chr14:105660422..105663007,2	MCF-7	breast:
31	chr14:105658555..105662273-chr14:105665604..105667749,3	K562	blood:
32	chr14:105663948..105665922-chr14:105668555..105670749,2	MCF-7	breast:
33	chr14:105663679..105669180-chr14:105669363..105675708,8	K562	blood:
34	chr14:105629335..105630135-chr14:105669031..105669954,2	K562	blood:
35	chr14:105671397..105673814-chr14:105677467..105679452,2	K562	blood:
36	chr14:105539437..105542411-chr14:105625371..105627547,2	K562	blood:
37	chr14:105638805..105642866-chr14:105643000..105645474,4	K562	blood:
38	chr14:105649547..105651849-chr14:105660128..105661657,2	MCF-7	breast:
39	chr14:105663948..105665922-chr14:105668555..105670749,2	MCF-7	breast:
40	chr14:105633069..105635536-chr14:105714407..105716304,2	MCF-7	breast:
41	chr14:105669105..105670016-chr14:105818280..105819197,4	K562	blood:
42	chr14:105658555..105662273-chr14:105665604..105667749,3	K562	blood:
43	chr14:105640130..105641650-chr6:31587480..31589137,3	K562	blood:
44	chr14:105672353..105675037-chr14:105816632..105818750,2	K562	blood:
45	chr14:105550862..105553369-chr14:105650448..105653112,3	MCF-7	breast:
46	chr14:105605939..105608674-chr14:105628049..105630309,2	K562	blood:
47	chr14:105638805..105642866-chr14:105643000..105645474,4	K562	blood:
48	chr14:105502174..105504922-chr14:105632204..105633983,2	MCF-7	breast:
49	chr14:105635510..105639334-chr14:105658974..105662269,3	K562	blood:
50	chr14:105671397..105673814-chr14:105677467..105679452,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTBD6-1	chr14:105639541-105639584	ENSG00000257816.1
2	lnc-BTBD6-3	chr14:105681490-105682260	NONHSAT040337
3	lnc-BTBD6-3	chr14:105682370-105682401	NONHSAT040337
4	lnc-BTBD6-1	chr14:105639787-105640155	ENSG00000257816.1

No data

Variant related genes	Relation type
BRF1	TF binding region
NUDT14	TF binding region
JAG2	TF binding region
ENSG00000257622	TF binding region
BRF1	CpG island
NUDT14	CpG island
JAG2	CpG island
ENSG00000257622	CpG island
ENSG00000183828	chromatin interactions
ENSG00000204469	chromatin interactions
ENSG00000184887	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000179364	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000184916	chromatin interactions
ENSG00000256498	chromatin interactions
ENSG00000257556	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000226174	chromatin interactions
ENSG00000170027	chromatin interactions
ENSG00000257622	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000182979	chromatin interactions

Extended variants
information (count: 2772 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:2772 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2072673	chr14:105624693-105624694	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375941020	chr14:105624725-105624726	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs587609321	chr14:105624739-105624740	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs587657712	chr14:105624850-105624851	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs587743353	chr14:105624857-105624858	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75189803	chr14:105624869-105624870	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192108758	chr14:105624885-105624886	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs587750236	chr14:105624903-105624904	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184048218	chr14:105624914-105624915	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs587703256	chr14:105624951-105624952	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs587760341	chr14:105624957-105624958	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs587613708	chr14:105624959-105624960	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144679367	chr14:105624973-105624974	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs587768939	chr14:105625011-105625012	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs28483244	chr14:105625029-105625030	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs587702136	chr14:105625053-105625054	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs587757896	chr14:105625065-105625066	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs587653272	chr14:105625148-105625149	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs587710283	chr14:105625152-105625153	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs72707622	chr14:105625162-105625163	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs587640229	chr14:105625267-105625268	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs587713743	chr14:105625308-105625309	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs587638737	chr14:105625331-105625332	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376276020	chr14:105625332-105625333	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368929553	chr14:105625401-105625402	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138268703	chr14:105625402-105625403	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs117678142	chr14:105625424-105625425	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs587692778	chr14:105625492-105625493	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs587725791	chr14:105625515-105625516	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376367481	chr14:105625555-105625556	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs587623161	chr14:105625563-105625564	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs587678661	chr14:105625566-105625567	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs587737242	chr14:105625577-105625578	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs149256137	chr14:105625612-105625613	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370753229	chr14:105625655-105625656	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188597874	chr14:105625668-105625669	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10138486	chr14:105625743-105625744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs587620457	chr14:105625758-105625759	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs144441797	chr14:105625791-105625792	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs587757562	chr14:105625877-105625878	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113157791	chr14:105625960-105625961	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs587630748	chr14:105625963-105625964	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs587685885	chr14:105625987-105625988	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377100577	chr14:105625988-105625989	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369357217	chr14:105626065-105626066	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191084968	chr14:105626087-105626088	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148384669	chr14:105626107-105626108	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182105934	chr14:105626138-105626139	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141569398	chr14:105626149-105626150	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs587652440	chr14:105626189-105626190	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Recurrent pregnancy loss	19789632	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20369283	CNVD

Chromatin state (count:2901 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105602800-105629800	Weak transcription	K562	blood
2	chr14:105606800-105631600	Weak transcription	Hela-S3	cervix
3	chr14:105607600-105625400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:105607600-105632000	Weak transcription	Brain Angular Gyrus	brain
5	chr14:105609400-105631400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:105610000-105631400	Weak transcription	HUVEC	blood vessel
7	chr14:105610200-105625200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:105613400-105631400	Weak transcription	Brain Anterior Caudate	brain
9	chr14:105613600-105631400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:105613800-105631400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:105615200-105625600	Weak transcription	A549	lung
12	chr14:105615800-105633200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:105618200-105627400	Weak transcription	Brain Germinal Matrix	brain
14	chr14:105619200-105628600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:105619800-105626800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:105620200-105630800	Weak transcription	Fetal Thymus	thymus
17	chr14:105620800-105625200	Genic enhancers	Right Ventricle	heart
18	chr14:105622000-105627600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:105622200-105625000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:105622200-105627600	Weak transcription	Adipose Nuclei	Adipose
21	chr14:105622200-105628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:105622200-105628800	Weak transcription	Left Ventricle	heart
23	chr14:105622200-105631200	Weak transcription	Lung	lung
24	chr14:105622800-105628600	Weak transcription	Gastric	stomach
25	chr14:105622800-105632000	Weak transcription	Fetal Brain Female	brain
26	chr14:105622800-105632200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:105622800-105632800	Weak transcription	Fetal Intestine Small	intestine
28	chr14:105623000-105629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:105623200-105627600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:105623600-105624800	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:105624000-105625000	Weak transcription	Pancreas	Pancrea
32	chr14:105624200-105627800	Weak transcription	HMEC	breast
33	chr14:105624400-105628600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:105624600-105625000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:105624600-105625400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr14:105624600-105625800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:105624600-105626800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:105624600-105627200	Weak transcription	NHEK	skin
39	chr14:105624800-105625800	Enhancers	Fetal Muscle Leg	muscle
40	chr14:105624800-105626000	Bivalent Enhancer	Placenta	Placenta
41	chr14:105625000-105625200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr14:105625000-105625200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr14:105625000-105625400	Enhancers	Pancreas	Pancrea
44	chr14:105625200-105625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:105625200-105625800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr14:105625200-105626800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:105625200-105626800	Weak transcription	Right Ventricle	heart
48	chr14:105625400-105625600	Weak transcription	Esophagus	oesophagus
49	chr14:105625400-105625800	Enhancers	Fetal Muscle Trunk	muscle
50	chr14:105625400-105626600	Weak transcription	Pancreas	Pancrea

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