Variant report

Variant	nsv492108
Chromosome Location	chr1:186969793-187745761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3322)
CpG islands
(count:793)
Chromatin interactive
region (count:143)
LncRNA
region (count:36)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3322 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:187188794-187188800	K562	blood:	n/a	n/a
2	ARID3A	chr1:187047098-187047151	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:187234358-187234448	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:187289979-187290002	K562	blood:	n/a	n/a
5	ARID3A	chr1:187460152-187460921	HepG2	liver:	n/a	n/a
6	ATF1	chr1:187029299-187029414	K562	blood:	n/a	n/a
7	ATF1	chr1:187360710-187360739	K562	blood:	n/a	n/a
8	ATF1	chr1:187176158-187176179	K562	blood:	n/a	n/a
9	ATF2	chr1:187593954-187594448	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr1:187600404-187600705	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr1:187353622-187354045	GM12878	blood:	n/a	n/a
12	ATF2	chr1:187353647-187354128	GM12878	blood:	n/a	n/a
13	BACH1	chr1:187547417-187547428	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr1:187040948-187041433	K562	blood:	n/a	n/a
15	BACH1	chr1:187199592-187199607	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr1:187128740-187128776	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:187116331-187116445	K562	blood:	n/a	n/a
18	BATF	chr1:187264011-187264186	GM12878	blood:	n/a	n/a
19	BATF	chr1:187353616-187354047	GM12878	blood:	n/a	n/a
20	BATF	chr1:187713785-187714061	GM12878	blood:	n/a	n/a
21	BATF	chr1:187032507-187032676	GM12878	blood:	n/a	n/a
22	BATF	chr1:187305956-187306258	GM12878	blood:	n/a	chr1:187306141-187306152 chr1:187306067-187306075 chr1:187306142-187306152
23	BATF	chr1:187713813-187714134	GM12878	blood:	n/a	n/a
24	BATF	chr1:187380285-187380538	GM12878	blood:	n/a	n/a
25	BATF	chr1:187353527-187354112	GM12878	blood:	n/a	n/a
26	BATF	chr1:187172414-187172658	GM12878	blood:	n/a	n/a
27	BCL11A	chr1:187594147-187594356	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCL11A	chr1:187353495-187354008	GM12878	blood:	n/a	n/a
29	BCL11A	chr1:187353614-187353995	GM12878	blood:	n/a	n/a
30	BCL3	chr1:187353728-187353972	GM12878	blood:	n/a	n/a
31	BCL3	chr1:186979644-186979872	GM12878	blood:	n/a	chr1:186979798-186979805 chr1:186979780-186979789
32	BCL3	chr1:187270800-187271115	GM12878	blood:	n/a	n/a
33	BCL3	chr1:186979775-186979977	GM12878	blood:	n/a	chr1:186979798-186979805 chr1:186979780-186979789
34	BHLHE40	chr1:187020771-187021094	K562	blood:	n/a	n/a
35	BHLHE40	chr1:187020787-187021083	HepG2	liver:	n/a	n/a
36	BHLHE40	chr1:187713873-187714200	GM12878	blood:	n/a	n/a
37	BHLHE40	chr1:187051704-187051854	K562	blood:	n/a	chr1:187051771-187051792
38	BHLHE40	chr1:187020776-187021130	GM12878	blood:	n/a	n/a
39	BHLHE40	chr1:187353721-187353991	GM12878	blood:	n/a	n/a
40	BHLHE40	chr1:187591096-187591473	GM12878	blood:	n/a	n/a
41	BHLHE40	chr1:187412461-187412474	GM12878	blood:	n/a	n/a
42	BRCA1	chr1:187729461-187729553	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr1:187113047-187113132	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr1:187600973-187600981	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr1:186970665-186971159	Hela-S3	cervix:	n/a	n/a
46	CBX3	chr1:187042390-187042772	K562	blood:	n/a	n/a
47	CBX3	chr1:187660586-187661077	HCT-116	colon:	n/a	n/a
48	CBX3	chr1:187172419-187172826	HCT-116	colon:	n/a	n/a
49	CBX3	chr1:187485887-187486477	HCT-116	colon:	n/a	n/a
50	CBX3	chr1:187043696-187044069	K562	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:187360078-187360128	NHDF-neo	bronchial:	n/a
2	chr1:187378159-187378209	AoSMC	blood vessel:	n/a
3	chr1:187411929-187411979	Hela-S3	cervix:	n/a
4	chr1:187673731-187673781	HEEpiC	esophagus:	n/a
5	chr1:187609278-187609328	HCM	heart:	n/a
6	chr1:187360078-187360128	LNCaP	prostate:	n/a
7	chr1:186982870-186982920	Hepatocyte	liver:	n/a
8	chr1:187593849-187593899	AG04449	skin:	fetal
9	chr1:187378159-187378209	MCF-7	breast:	n/a
10	chr1:187460781-187460831	CMK	blood:	n/a
11	chr1:187610355-187610405	HEK293	kidney:	embryo
12	chr1:187360078-187360128	H1-hESC	embryonic stem cell:	embryo
13	chr1:187378159-187378209	HPAEpiC	pulmonary alveolar:	n/a
14	chr1:187609278-187609328	AG10803	skin:	n/a
15	chr1:187445635-187445685	HIPEpiC	eye:	n/a
16	chr1:187609278-187609328	AG09309	skin:	n/a
17	chr1:187360078-187360128	HL-60	blood:	n/a
18	chr1:187378159-187378209	AG09309	skin:	n/a
19	chr1:187043272-187043322	GM12891	blood:	n/a
20	chr1:187378159-187378209	HepG2	liver:	n/a
21	chr1:187445635-187445685	BJ	skin:	n/a
22	chr1:187360078-187360128	HAEpiC	amniotic membrane:	n/a
23	chr1:187609278-187609328	RPTEC	kidney:	n/a
24	chr1:187610355-187610405	RPTEC	kidney:	n/a
25	chr1:187610355-187610405	HRPEpiC	eye:	n/a
26	chr1:187487246-187487296	Jurkat	blood:	n/a
27	chr1:187593849-187593899	GM12891	blood:	n/a
28	chr1:187487246-187487296	K562	blood:	n/a
29	chr1:187460781-187460831	AoSMC	blood vessel:	n/a
30	chr1:187445635-187445685	GM19239	blood:	n/a
31	chr1:187593849-187593899	NT2-D1	testis:	n/a
32	chr1:187609278-187609328	IMR90	lung:	fetal
33	chr1:187445635-187445685	HMEC	breast:	n/a
34	chr1:187378159-187378209	NT2-D1	testis:	n/a
35	chr1:186982870-186982920	SAEC	small airway:	n/a
36	chr1:187343088-187343138	H1-hESC	embryonic stem cell:	embryo
37	chr1:187460781-187460831	HRPEpiC	eye:	n/a
38	chr1:187378159-187378209	HNPCEpiC	eye:	n/a
39	chr1:187360078-187360128	SK-N-MC	brain:	n/a
40	chr1:187593849-187593899	T-47D	breast:	n/a
41	chr1:187360078-187360128	NHBE	bronchial:	n/a
42	chr1:187043272-187043322	HRCEpiC	kidney:	n/a
43	chr1:186982870-186982920	HIPEpiC	eye:	n/a
44	chr1:187593849-187593899	NB4	blood:	n/a
45	chr1:187360078-187360128	HEEpiC	esophagus:	n/a
46	chr1:187487246-187487296	HIPEpiC	eye:	n/a
47	chr1:187445635-187445685	BE2_C	brain:	n/a
48	chr1:187411929-187411979	HCM	heart:	n/a
49	chr1:187593849-187593899	ovcar-3	ovarian:	n/a
50	chr1:187593849-187593899	LNCaP	prostate:	n/a

(count:143 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:187557147..187558747-chr1:187665623..187667137,2	K562	blood:
2	chr1:187580745..187582461-chr1:187606188..187607711,2	K562	blood:
3	chr1:187006070..187008027-chr1:187010351..187012013,2	K562	blood:
4	chr1:187354774..187357072-chr1:187361300..187363402,2	K562	blood:
5	chr1:187174750..187176449-chr1:187182354..187184410,2	K562	blood:
6	chr1:187232623..187234293-chr1:187251879..187254136,2	MCF-7	breast:
7	chr1:187204890..187207094-chr1:187208824..187210480,2	K562	blood:
8	chr1:187043744..187045422-chr1:187055243..187057785,2	K562	blood:
9	chr1:187401953..187403656-chr1:187406162..187408985,2	K562	blood:
10	chr1:187020457..187021378-chr1:187072454..187072961,2	MCF-7	breast:
11	chr1:187194028..187196739-chr1:187199034..187201511,2	MCF-7	breast:
12	chr1:187617744..187619675-chr1:187621821..187624092,2	MCF-7	breast:
13	chr1:187211338..187213426-chr1:187231052..187232636,2	MCF-7	breast:
14	chr1:187269207..187270840-chr1:187278249..187280052,2	K562	blood:
15	chr1:187001862..187004386-chr1:187006153..187009407,3	MCF-7	breast:
16	chr1:187047122..187049731-chr1:187071325..187073626,2	K562	blood:
17	chr1:187234168..187234815-chr1:187445615..187446278,2	MCF-7	breast:
18	chr1:187435652..187437639-chr1:187437759..187439886,2	MCF-7	breast:
19	chr1:187306897..187309315-chr1:187310085..187312061,2	MCF-7	breast:
20	chr1:187552134..187555012-chr1:187591423..187593251,2	MCF-7	breast:
21	chr1:187382995..187383520-chr1:187897113..187897902,2	MCF-7	breast:
22	chr1:187629891..187632479-chr2:190305027..190306611,2	MCF-7	breast:
23	chr1:187610989..187613915-chr1:187629358..187631448,2	K562	blood:
24	chr1:187672225..187673726-chr3:105922087..105923600,2	MCF-7	breast:
25	chr1:187184668..187186363-chr1:187193054..187195569,2	MCF-7	breast:
26	chr1:187610989..187613915-chr1:187629358..187631448,2	K562	blood:
27	chr1:187272435..187275262-chr1:187278841..187280907,2	MCF-7	breast:
28	chr1:187460603..187462421-chr1:187469087..187470836,2	MCF-7	breast:
29	chr1:187178472..187180778-chr1:187187032..187189670,2	K562	blood:
30	chr1:187269207..187270840-chr1:187278249..187280052,2	K562	blood:
31	chr1:187005737..187008049-chr1:187009924..187012532,2	MCF-7	breast:
32	chr1:187025654..187027194-chr1:187032073..187033921,2	K562	blood:
33	chr1:187079987..187082077-chr1:187083183..187085659,2	K562	blood:
34	chr1:187041298..187044019-chr1:187047433..187050031,3	K562	blood:
35	chr1:187095568..187097238-chr1:187097288..187099835,2	K562	blood:
36	chr1:187281535..187283136-chr1:187285163..187287711,2	K562	blood:
37	chr1:187070531..187072576-chr1:187074422..187076154,2	K562	blood:
38	chr1:187289148..187290650-chr1:187308848..187310428,2	K562	blood:
39	chr1:187021138..187025717-chr1:187026456..187031273,4	MCF-7	breast:
40	chr1:187460603..187462421-chr1:187469087..187470836,2	MCF-7	breast:
41	chr1:187401953..187403656-chr1:187406162..187408985,2	K562	blood:
42	chr1:187204890..187207094-chr1:187208824..187210480,2	K562	blood:
43	chr1:187184668..187186363-chr1:187193054..187195569,2	MCF-7	breast:
44	chr1:187234151..187234726-chr1:187293743..187294632,2	MCF-7	breast:
45	chr1:187006070..187008027-chr1:187010351..187012013,2	K562	blood:
46	chr1:187086591..187088647-chr1:187092294..187094010,2	K562	blood:
47	chr1:187232623..187234293-chr1:187251879..187254136,2	MCF-7	breast:
48	chr1:187445527..187446417-chr1:187482131..187482720,2	MCF-7	breast:
49	chr1:187025789..187027854-chr1:187039505..187041153,2	K562	blood:
50	chr1:187382637..187383516-chr1:190422637..190423274,2	MCF-7	breast:

(count:36 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLA2G4A-1	chr1:187298123-187298211	NONHSAT008460
2	lnc-PLA2G4A-1	chr1:187295873-187296156	FPKM1_group_1855_transcript_1
3	lnc-PLA2G4A-2	chr1:187412738-187412858	XLOC_000498
4	lnc-PLA2G4A-12	chr1:187676115-187677179	NONHSAT008467
5	lnc-PLA2G4A-1	chr1:187061797-187062724	NONHSAT008456
6	lnc-PLA2G4A-12	chr1:187677973-187678029	NONHSAT008467
7	lnc-PLA2G4A-3	chr1:187610508-187610613	ENSG00000230426
8	lnc-PLA2G4A-1	chr1:187296098-187296186	FPKM1_group_1855_transcript_1
9	lnc-PLA2G4A-2	chr1:187446152-187446354	XLOC_000498
10	lnc-PLA2G4A-3	chr1:187610358-187610401	ENSG00000230426
11	lnc-PLA2G4A-1	chr1:187085337-187085505	NONHSAT008456
12	lnc-PTGS2-4	chr1:187105231-187105502	NONHSAT008458
13	lnc-PLA2G4A-2	chr1:187439174-187439394	NONHSAT008463
14	lnc-PTGS2-5	chr1:187476138-187476251	NONHSAT008464
15	lnc-PLA2G4A-2	chr1:187443288-187449968	NONHSAT008463
16	lnc-PLA2G4A-2	chr1:187439203-187439371	XLOC_000498
17	lnc-PTGS2-4	chr1:187122995-187123188	NONHSAT008458
18	lnc-PLA2G4A-1	chr1:187272472-187273016	NONHSAT008459
19	lnc-PLA2G4A-1	chr1:187061974-187062078	XLOC_000497
20	lnc-PTGS2-5	chr1:187475970-187476115	NONHSAT008464
21	lnc-PLA2G4A-1	chr1:187141442-187141680	NONHSAT008459
22	lnc-PLA2G4A-1	chr1:187064151-187064319	FPKM1_group_1845_transcript_3
23	lnc-PLA2G4A-11	chr1:187387067-187387135	FPKM1_group_1860_transcript_1
24	lnc-PLA2G4A-1	chr1:187272598-187272671	XLOC_000497
25	lnc-PLA2G4A-2	chr1:187439203-187439324	XLOC_000498
26	lnc-PLA2G4A-12	chr1:187675692-187675828	NONHSAT008467
27	lnc-PLA2G4A-2	chr1:187449425-187449746	ENSG00000272827.1
28	lnc-PLA2G4A-1	chr1:187328847-187329455	XLOC_000497
29	lnc-PLA2G4A-1	chr1:187298123-187298192	XLOC_000497
30	lnc-PLA2G4A-1	chr1:187061797-187062724	FPKM1_group_1845_transcript_3
31	lnc-PLA2G4A-1	chr1:187295873-187296156	NONHSAT008460
32	lnc-PLA2G4A-2	chr1:187412760-187412858	XLOC_000498
33	lnc-PLA2G4A-11	chr1:187389636-187390489	FPKM1_group_1860_transcript_1
34	lnc-PLA2G4A-3	chr1:187610750-187612992	ENSG00000230426
35	lnc-PTGS2-6	chr1:187683374-187683866	NONHSAT008468
36	lnc-PTGS2-3	chr1:186996425-186996453	NONHSAT008454

No data

Variant related genes	Relation type
LINC01036	TF binding region
FDPSP1	TF binding region
ENSG00000223847	TF binding region
LINC01037	TF binding region
ENSG00000228012	TF binding region
ENSG00000271558	TF binding region
ERVMER61-1	TF binding region
ENSG00000236401	TF binding region
ENSG00000272827	TF binding region
LINC01036	CpG island
FDPSP1	CpG island
ENSG00000223847	CpG island
LINC01037	CpG island
ENSG00000228012	CpG island
ENSG00000271558	CpG island
ERVMER61-1	CpG island
ENSG00000236401	CpG island
ENSG00000272827	CpG island
ENSG00000225462	chromatin interactions
ENSG00000185238	chromatin interactions
ENSG00000115368	chromatin interactions
ENSG00000231599	chromatin interactions
ENSG00000047410	chromatin interactions
ENSG00000272827	chromatin interactions
MINPP1	miRNA target sites
TMEM138	miRNA target sites
LRPPRC	miRNA target sites

Extended variants
information (count: 12595 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:12595 , 50 per page) page: 1 2 3 4 5 6 7 ... 252

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541784589	chr1:186969795-186969796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369195454	chr1:186969835-186969836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371583892	chr1:186969921-186969922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533519500	chr1:186969925-186969926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568274880	chr1:186969990-186969991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551711947	chr1:186970016-186970017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563771350	chr1:186970030-186970031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530944595	chr1:186970050-186970051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183997720	chr1:186970057-186970058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567370000	chr1:186970094-186970095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186892641	chr1:186970104-186970105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546449448	chr1:186970111-186970112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571454478	chr1:186970118-186970119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115133916	chr1:186970132-186970133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200317405	chr1:186970161-186970162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191971488	chr1:186970208-186970209	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs16826273	chr1:186970219-186970220	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565211806	chr1:186970231-186970232	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs183305336	chr1:186970233-186970234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs554593746	chr1:186970243-186970244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs572834038	chr1:186970272-186970273	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs79406261	chr1:186970275-186970276	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559965581	chr1:186970347-186970348	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs578200448	chr1:186970372-186970373	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545571096	chr1:186970392-186970393	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201728062	chr1:186970396-186970397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551012681	chr1:186970408-186970409	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs74682579	chr1:186970409-186970410	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs61811037	chr1:186970411-186970412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs563759711	chr1:186970426-186970427	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530909708	chr1:186970452-186970453	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs375011626	chr1:186970453-186970454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs187181414	chr1:186970476-186970477	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528422720	chr1:186970504-186970505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs115663887	chr1:186970515-186970516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571502939	chr1:186970531-186970532	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs538582780	chr1:186970534-186970535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs191768049	chr1:186970618-186970619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs146399654	chr1:186970796-186970797	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs139234199	chr1:186970849-186970850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533340049	chr1:186970938-186970939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182450427	chr1:186970965-186970966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572994375	chr1:186971119-186971120	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369525292	chr1:186971155-186971156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186731536	chr1:186971165-186971166	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs558306281	chr1:186971198-186971199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs535371577	chr1:186971230-186971231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578181538	chr1:186971249-186971250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545426595	chr1:186971264-186971265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557192855	chr1:186971282-186971283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Medulloblastoma	21163964	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186949800-186970000	Weak transcription	Hela-S3	cervix
2	chr1:186952000-186969800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:186953200-186970800	Weak transcription	Adipose Nuclei	Adipose
4	chr1:186953600-186969800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:186959600-186970000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:186959600-186970200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:186964400-186969800	Weak transcription	NHDF-Ad	bronchial
8	chr1:186968600-186969800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:186968800-186970200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:186969000-186975400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:186969400-186970400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:186969800-186970200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:186969800-186971400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:186969800-186971600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:186969800-186971600	Enhancers	NHDF-Ad	bronchial
16	chr1:186970000-186970400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:186970000-186970400	Enhancers	NHEK	skin
18	chr1:186970000-186971200	Enhancers	Osteobl	bone
19	chr1:186970000-186971600	Enhancers	NH-A	brain
20	chr1:186970000-186971800	Enhancers	Hela-S3	cervix
21	chr1:186970200-186970400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:186970200-186970800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:186970200-186971000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:186970200-186971200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:186970200-186971400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:186970200-186971600	Enhancers	HMEC	breast
27	chr1:186970400-186970600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:186970400-186970800	Flanking Active TSS	NHEK	skin
29	chr1:186970400-186971200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:186970400-186971400	Enhancers	NHLF	lung
31	chr1:186970400-186971600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:186970600-186970800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:186970800-186971000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:186970800-186971000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:186970800-186971200	Enhancers	Adipose Nuclei	Adipose
36	chr1:186970800-186971600	Enhancers	NHEK	skin
37	chr1:186971000-186971200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:186971200-186971600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:186971400-186972600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:186971600-186972600	Weak transcription	NHDF-Ad	bronchial
41	chr1:186971600-186975800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:186971600-186976000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:186972600-186972800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:186972600-186973000	Enhancers	NHDF-Ad	bronchial
45	chr1:186975400-186975600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:186975400-186975800	ZNF genes & repeats	Pancreas	Pancrea
47	chr1:186975800-186976400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:186975800-186976800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr1:186976000-186976600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:186976000-186976600	Enhancers	NHEK	skin

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