Variant report

Variant	esv20199
Chromosome Location	chr15:77923484-77925974
allele	n/a
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	ARID3A	chr15:77925899-77926076	K562	blood:	n/a	n/a
2	ATF2	chr15:77925461-77927008	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr15:77925762-77927046	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr15:77925817-77926099	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr15:77925857-77926179	GM12878	blood:	n/a	n/a
6	ATF3	chr15:77925732-77926191	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr15:77925754-77926241	A549	lung:	n/a	n/a
8	ATF3	chr15:77925816-77926085	K562	blood:	n/a	n/a
9	BACH1	chr15:77925619-77926520	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr15:77925412-77926262	A549	lung:	n/a	chr15:77925420-77925433
11	BCLAF1	chr15:77925737-77926107	GM12878	blood:	n/a	n/a
12	BCLAF1	chr15:77925756-77926123	GM12878	blood:	n/a	n/a
13	BHLHE40	chr15:77925834-77926167	GM12878	blood:	n/a	n/a
14	BHLHE40	chr15:77925559-77926179	K562	blood:	n/a	n/a
15	BRCA1	chr15:77925889-77926125	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr15:77925788-77926457	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr15:77925929-77926145	GM12878	blood:	n/a	n/a
18	CBX3	chr15:77925518-77926182	K562	blood:	n/a	n/a
19	CCNT2	chr15:77925101-77926149	K562	blood:	n/a	chr15:77925365-77925374
20	CEBPB	chr15:77925636-77926763	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr15:77925907-77926023	HepG2	liver:	n/a	n/a
22	CEBPB	chr15:77925521-77925770	K562	blood:	n/a	n/a
23	CEBPD	chr15:77925799-77926065	HepG2	liver:	n/a	n/a
24	CHD1	chr15:77925168-77925336	H1-hESC	embryonic stem cell:	n/a	chr15:77925320-77925330
25	CHD1	chr15:77925504-77926326	IMR90	lung:	n/a	n/a
26	CHD1	chr15:77925586-77925785	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr15:77925898-77926113	GM12878	blood:	n/a	n/a
28	CHD2	chr15:77925813-77926142	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr15:77925795-77926200	GM12878	blood:	n/a	n/a
30	CHD2	chr15:77925542-77927058	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr15:77925751-77926140	K562	blood:	n/a	n/a
32	CREB1	chr15:77925694-77927515	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr15:77925792-77926741	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr15:77925638-77926184	A549	lung:	n/a	n/a
35	CTBP2	chr15:77925487-77927481	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr15:77925569-77926408	MCF-7	breast:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028 chr15:77926344-77926353
37	CTCF	chr15:77923575-77923608	GM19238	blood:	n/a	n/a
38	CTCF	chr15:77923446-77923687	MCF-7	breast:	n/a	chr15:77923553-77923569 chr15:77923554-77923567
39	CTCF	chr15:77925920-77926070	Hela-S3	cervix:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028
40	CTCF	chr15:77925880-77926030	HUVEC	blood vessel:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028
41	CTCF	chr15:77923526-77923591	HepG2	liver:	n/a	chr15:77923553-77923569 chr15:77923554-77923567
42	CTCF	chr15:77925798-77926159	LNCaP	prostate:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028
43	CTCF	chr15:77925556-77926199	GM12891	blood:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028
44	CTCF	chr15:77925900-77926050	GM12872	blood:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028
45	CTCF	chr15:77923560-77923710	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr15:77925493-77926359	K562	blood:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028 chr15:77926344-77926353
47	CTCF	chr15:77925831-77926150	Kidney_OC	kidney:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028
48	CTCF	chr15:77923480-77923630	HCM	heart:	n/a	chr15:77923553-77923569 chr15:77923554-77923567
49	CTCF	chr15:77925376-77926506	HCT-116	colon:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926007-77926028 chr15:77926344-77926353
50	CTCF	chr15:77923440-77923590	AG09319	gingival:	n/a	chr15:77923553-77923569 chr15:77923554-77923567

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:77924697-77924747	CMK	blood:	n/a
2	chr15:77925481-77925531	MCF10A-Er-Src	breast:	n/a
3	chr15:77924281-77924331	HCT-116	colon:	n/a
4	chr15:77924281-77924331	GM12891	blood:	n/a
5	chr15:77924569-77924619	AG10803	skin:	n/a
6	chr15:77925892-77925942	GM19239	blood:	n/a
7	chr15:77925960-77926010	NH-A	brain:	n/a
8	chr15:77925481-77925531	U87	brain:	n/a
9	chr15:77924569-77924619	HNPCEpiC	eye:	n/a
10	chr15:77924281-77924331	SKMC	muscle:	n/a
11	chr15:77925892-77925942	AG09319	gingival:	n/a
12	chr15:77925892-77925942	AG04449	skin:	fetal
13	chr15:77925892-77925942	HNPCEpiC	eye:	n/a
14	chr15:77925960-77926010	GM12891	blood:	n/a
15	chr15:77924281-77924331	PANC-1	pancreas:	n/a
16	chr15:77925960-77926010	AG10803	skin:	n/a
17	chr15:77925960-77926010	BE2_C	brain:	n/a
18	chr15:77924281-77924331	LNCaP	prostate:	n/a
19	chr15:77925960-77926010	SKMC	muscle:	n/a
20	chr15:77924697-77924747	HEEpiC	esophagus:	n/a
21	chr15:77924697-77924747	MCF-7	breast:	n/a
22	chr15:77925892-77925942	HMEC	breast:	n/a
23	chr15:77925481-77925531	AoSMC	blood vessel:	n/a
24	chr15:77925892-77925942	SAEC	small airway:	n/a
25	chr15:77925481-77925531	SK-N-SH_RA	brain:	n/a
26	chr15:77925892-77925942	MCF10A-Er-Src	breast:	n/a
27	chr15:77924569-77924619	Jurkat	blood:	n/a
28	chr15:77925481-77925531	AG09319	gingival:	n/a
29	chr15:77925892-77925942	IMR90	lung:	fetal
30	chr15:77925960-77926010	MCF-7	breast:	n/a
31	chr15:77925960-77926010	HNPCEpiC	eye:	n/a
32	chr15:77925481-77925531	MCF-7	breast:	n/a
33	chr15:77925892-77925942	AoSMC	blood vessel:	n/a
34	chr15:77924281-77924331	HCM	heart:	n/a
35	chr15:77925481-77925531	AG10803	skin:	n/a
36	chr15:77924281-77924331	HPAEpiC	pulmonary alveolar:	n/a
37	chr15:77925960-77926010	AG09309	skin:	n/a
38	chr15:77924281-77924331	AoSMC	blood vessel:	n/a
39	chr15:77924697-77924747	SKMC	muscle:	n/a
40	chr15:77925960-77926010	PFSK-1	brain:	n/a
41	chr15:77924569-77924619	HCT-116	colon:	n/a
42	chr15:77925960-77926010	HRPEpiC	eye:	n/a
43	chr15:77925481-77925531	GM12878	blood:	n/a
44	chr15:77924697-77924747	HCM	heart:	n/a
45	chr15:77924569-77924619	PFSK-1	brain:	n/a
46	chr15:77924281-77924331	Hepatocyte	liver:	n/a
47	chr15:77924569-77924619	T-47D	breast:	n/a
48	chr15:77924697-77924747	AG04450	lung:	fetal
49	chr15:77924281-77924331	SAEC	small airway:	n/a
50	chr15:77925481-77925531	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr15:77925576..77926405-chr15:78167119..78167924,3	K562	blood:
2	chr15:77909817..77910574-chr15:77925500..77926398,3	MCF-7	breast:
3	chr15:77914562..77916092-chr15:77921484..77924358,2	MCF-7	breast:
4	chr15:77925532..77926425-chr15:78076783..78078398,4	MCF-7	breast:
5	chr15:77835455..77836319-chr15:77923426..77923976,2	MCF-7	breast:
6	chr15:77925072..77927787-chr15:78111223..78115888,59	MCF-7	breast:
7	chr15:77925750..77926474-chr15:78007678..78008229,2	MCF-7	breast:
8	chr15:77925519..77926294-chr15:78162494..78163468,3	MCF-7	breast:
9	chr15:77925397..77927315-chr15:78112259..78115116,2	K562	blood:
10	chr15:77925492..77926460-chr15:77947054..77947731,3	K562	blood:
11	chr15:77316379..77317255-chr15:77925626..77926458,2	MCF-7	breast:
12	chr15:77925536..77926440-chr15:77946558..77947953,8	MCF-7	breast:
13	chr15:77478486..77479274-chr15:77925458..77926114,2	MCF-7	breast:
14	chr15:77925566..77926501-chr15:77951718..77952824,3	K562	blood:
15	chr15:77925249..77927257-chr15:78113205..78115049,24	MCF-7	breast:
16	chr15:77861324..77862294-chr15:77925777..77926357,2	K562	blood:
17	chr15:77835401..77836400-chr15:77925681..77926470,4	K562	blood:
18	chr15:77925887..77926426-chr19:40734602..40735348,2	MCF-7	breast:
19	chr15:77925509..77926398-chr15:78076937..78077835,4	K562	blood:
20	chr15:77924941..77926828-chr15:77932359..77934227,2	MCF-7	breast:
21	chr15:77923251..77928296-chr15:78111448..78115771,8	MCF-7	breast:
22	chr11:60252998..60253911-chr15:77925589..77926334,2	MCF-7	breast:
23	chr15:77925397..77928069-chr15:78112259..78116246,3	K562	blood:
24	chr15:77835764..77836461-chr15:77925509..77926265,4	MCF-7	breast:
25	chr15:77839369..77839946-chr15:77923059..77923563,2	MCF-7	breast:
26	chr15:77925435..77927439-chr15:78112259..78115090,22	K562	blood:
27	chr15:77925299..77927652-chr15:78112444..78114100,3	MCF-7	breast:
28	chr15:77924601..77927275-chr15:77937272..77938910,2	K562	blood:
29	chr15:77478581..77479511-chr15:77925565..77926440,3	MCF-7	breast:
30	chr15:77399950..77400942-chr15:77923445..77924282,3	MCF-7	breast:
31	chr15:77478624..77479221-chr15:77923075..77923905,2	MCF-7	breast:
32	chr15:77925387..77926440-chr15:77951721..77952677,7	MCF-7	breast:
33	chr15:77922761..77925687-chr15:77933695..77936379,3	K562	blood:
34	chr15:77925603..77926173-chr15:77946987..77947667,2	MCF-7	breast:
35	chr15:77909277..77910127-chr15:77925790..77926339,2	MCF-7	breast:
36	chr15:77912527..77913180-chr15:77925436..77926049,2	MCF-7	breast:
37	chr15:77912184..77913186-chr15:77925455..77926450,5	K562	blood:
38	chr15:77838960..77839788-chr15:77925715..77926415,4	MCF-7	breast:
39	chr15:77925580..77926309-chr15:78156358..78157211,2	MCF-7	breast:

Variant related genes	Relation type
LINGO1	TF binding region
LINGO1	CpG island
ENSG00000169783	chromatin interactions
ENSG00000259281	chromatin interactions
ENSG00000259666	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546737044	chr15:77923510-77923511	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs568543567	chr15:77923555-77923556	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs79959363	chr15:77923561-77923562	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550767867	chr15:77923601-77923602	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189914228	chr15:77923603-77923604	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542489755	chr15:77923626-77923627	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181134522	chr15:77923644-77923645	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185100866	chr15:77923646-77923647	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11854903	chr15:77923665-77923666	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530611686	chr15:77923714-77923715	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555125405	chr15:77923749-77923750	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573692655	chr15:77923750-77923751	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs371125641	chr15:77923761-77923762	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370474486	chr15:77923798-77923799	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542040416	chr15:77923830-77923831	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557558066	chr15:77923854-77923855	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs4398081	chr15:77923889-77923890	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs1995972	chr15:77923917-77923918	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546127195	chr15:77923994-77923995	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564448114	chr15:77924004-77924005	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs545207555	chr15:77924036-77924037	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528422424	chr15:77924037-77924038	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs143325223	chr15:77924072-77924073	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562007755	chr15:77924074-77924075	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529424062	chr15:77924087-77924088	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs550481771	chr15:77924117-77924118	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs562720457	chr15:77924119-77924120	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533257460	chr15:77924138-77924139	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551662946	chr15:77924141-77924142	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs527389538	chr15:77924152-77924153	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533529401	chr15:77924167-77924168	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548993924	chr15:77924172-77924173	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567225687	chr15:77924177-77924178	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs537990803	chr15:77924217-77924218	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs557261746	chr15:77924218-77924219	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs575392396	chr15:77924229-77924230	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148347611	chr15:77924260-77924261	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs527829985	chr15:77924399-77924400	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558001179	chr15:77924409-77924410	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs112948516	chr15:77924448-77924449	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540249463	chr15:77924542-77924543	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs562141429	chr15:77924607-77924608	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574047775	chr15:77924643-77924644	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112209041	chr15:77924653-77924654	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs550718792	chr15:77924746-77924747	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs112499127	chr15:77924755-77924756	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs544734075	chr15:77924823-77924824	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534146993	chr15:77924991-77924992	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs562981992	chr15:77924994-77924995	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs180773286	chr15:77925088-77925089	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77921800-77924200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:77921800-77924400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
3	chr15:77922000-77923800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:77922000-77924000	Bivalent Enhancer	Placenta	Placenta
5	chr15:77922200-77924000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
6	chr15:77922400-77923600	Enhancers	Spleen	Spleen
7	chr15:77922600-77924000	Enhancers	Fetal Lung	lung
8	chr15:77922600-77924800	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr15:77922800-77923600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr15:77922800-77924000	Weak transcription	Right Atrium	heart
11	chr15:77923000-77923600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr15:77923000-77923600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr15:77923000-77923600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr15:77923000-77924400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
15	chr15:77923000-77924400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr15:77923000-77924600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:77923000-77924600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:77923000-77924600	Bivalent Enhancer	Fetal Heart	heart
19	chr15:77923000-77927400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr15:77923200-77923600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
21	chr15:77923200-77923600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:77923200-77923600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:77923200-77923600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:77923200-77923600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr15:77923200-77924000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:77923200-77924600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:77923200-77924600	Bivalent/Poised TSS	Fetal Kidney	kidney
28	chr15:77923200-77924600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr15:77923200-77924600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr15:77923200-77925600	Active TSS	Ovary	ovary
31	chr15:77923400-77923600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr15:77923400-77923600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:77923400-77923600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
34	chr15:77923400-77923800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:77923400-77923800	Enhancers	K562	blood
36	chr15:77923400-77924000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:77923400-77924000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr15:77923400-77924000	Active TSS	Brain Angular Gyrus	brain
39	chr15:77923400-77924000	Active TSS	Brain Cingulate Gyrus	brain
40	chr15:77923400-77924000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr15:77923400-77924200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr15:77923400-77924200	Enhancers	Pancreas	Pancrea
43	chr15:77923400-77924400	Bivalent Enhancer	Fetal Brain Male	brain
44	chr15:77923400-77924600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr15:77923400-77924800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:77923400-77924800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr15:77923400-77926000	Active TSS	Brain Anterior Caudate	brain
48	chr15:77923400-77926000	Active TSS	Brain Substantia Nigra	brain
49	chr15:77923400-77927600	Active TSS	H9 Cell Line	embryonic stem cell
50	chr15:77923600-77923800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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