Variant report

Variant	esv3342683
Chromosome Location	chr1:150120853-150124201
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	ATF2	chr1:150123368-150124377	GM12878	blood:	n/a	n/a
2	ATF2	chr1:150123306-150124077	GM12878	blood:	n/a	n/a
3	BACH1	chr1:150121802-150122291	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:150122636-150122999	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr1:150121857-150122103	GM12878	blood:	n/a	chr1:150121977-150121988
6	BATF	chr1:150123538-150123846	GM12878	blood:	n/a	n/a
7	BCL3	chr1:150121674-150122140	GM12878	blood:	n/a	chr1:150121896-150121909 chr1:150121994-150122007 chr1:150121999-150122008
8	BCLAF1	chr1:150121253-150122324	GM12878	blood:	n/a	chr1:150121896-150121909 chr1:150121994-150122007 chr1:150122206-150122219 chr1:150121999-150122008
9	BCLAF1	chr1:150122894-150124323	GM12878	blood:	n/a	chr1:150123863-150123872
10	BCLAF1	chr1:150122973-150124359	GM12878	blood:	n/a	chr1:150123863-150123872
11	BCLAF1	chr1:150120699-150122572	GM12878	blood:	n/a	chr1:150122497-150122510 chr1:150122500-150122513 chr1:150121896-150121909 chr1:150122495-150122508 chr1:150121994-150122007 chr1:150122206-150122219 chr1:150122329-150122338 chr1:150121999-150122008 chr1:150122543-150122556 chr1:150122545-150122554 chr1:150122503-150122512
12	BHLHE40	chr1:150121684-150122397	GM12878	blood:	n/a	chr1:150121899-150121915
13	BHLHE40	chr1:150123558-150124210	GM12878	blood:	n/a	n/a
14	CCNT2	chr1:150121552-150122661	K562	blood:	n/a	chr1:150121998-150122007 chr1:150122210-150122219
15	CEBPB	chr1:150120929-150121141	IMR90	lung:	n/a	n/a
16	CEBPB	chr1:150121042-150121853	GM12878	blood:	n/a	n/a
17	CHD1	chr1:150120708-150124616	IMR90	lung:	n/a	chr1:150122211-150122221
18	CHD1	chr1:150122789-150123205	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr1:150122234-150124524	GM12878	blood:	n/a	n/a
20	CHD1	chr1:150121326-150121854	GM12878	blood:	n/a	n/a
21	CHD2	chr1:150122845-150122847	K562	blood:	n/a	n/a
22	CHD2	chr1:150122904-150124212	GM12878	blood:	n/a	n/a
23	CHD2	chr1:150121694-150121789	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr1:150121432-150122332	GM12878	blood:	n/a	chr1:150122211-150122221
25	CHD2	chr1:150121948-150121984	K562	blood:	n/a	n/a
26	CHD2	chr1:150122268-150122294	K562	blood:	n/a	n/a
27	CREB1	chr1:150121798-150122605	A549	lung:	n/a	n/a
28	CREB1	chr1:150121476-150122569	HepG2	liver:	n/a	n/a
29	CREB1	chr1:150121878-150122436	GM12878	blood:	n/a	n/a
30	CTCF	chr1:150123200-150123350	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr1:150122335-150122393	GM12878	blood:	n/a	n/a
32	CTCF	chr1:150122246-150122250	GM19239	blood:	n/a	n/a
33	CTCF	chr1:150121680-150121830	BJ	skin:	n/a	n/a
34	CTCF	chr1:150121640-150121790	AG04449	skin:	n/a	n/a
35	CTCF	chr1:150122200-150122350	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr1:150122263-150122293	GM19239	blood:	n/a	n/a
37	CTCF	chr1:150122200-150122350	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr1:150121660-150121810	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr1:150121700-150121850	WERI-Rb-1	eye:	n/a	n/a
40	CUX1	chr1:150124192-150124328	GM12878	blood:	n/a	n/a
41	E2F4	chr1:150121647-150122020	MCF10A-Er-Src	breast:	n/a	chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007
42	E2F4	chr1:150123591-150123693	GM12878	blood:	n/a	n/a
43	E2F6	chr1:150121473-150122411	A549	lung:	n/a	chr1:150122332-150122342 chr1:150122305-150122316 chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007
44	E2F6	chr1:150121624-150122566	K562	blood:	n/a	chr1:150122332-150122342 chr1:150122305-150122316 chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007 chr1:150122502-150122512
45	E2F6	chr1:150121632-150122511	K562	blood:	n/a	chr1:150122332-150122342 chr1:150122305-150122316 chr1:150121901-150121911 chr1:150121721-150121735 chr1:150121998-150122007
46	E2F6	chr1:150122139-150122484	A549	lung:	n/a	chr1:150122332-150122342 chr1:150122305-150122316
47	E2F6	chr1:150122613-150122912	K562	blood:	n/a	n/a
48	EBF1	chr1:150121707-150122327	GM12878	blood:	n/a	chr1:150121924-150121935
49	EBF1	chr1:150121730-150122136	GM12878	blood:	n/a	chr1:150121924-150121935
50	EGR1	chr1:150121860-150123071	K562	blood:	n/a	chr1:150121993-150122003 chr1:150121992-150122007 chr1:150122224-150122233 chr1:150122506-150122516 chr1:150121993-150122006 chr1:150121998-150122008 chr1:150121993-150122006 chr1:150121997-150122007

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150123037-150123087	HRPEpiC	eye:	n/a
2	chr1:150122654-150122704	U87	brain:	n/a
3	chr1:150123734-150123784	Caco-2	colon:	n/a
4	chr1:150123037-150123087	HRPEpiC	eye:	n/a
5	chr1:150122654-150122704	U87	brain:	n/a
6	chr1:150123734-150123784	Caco-2	colon:	n/a
7	chr1:150122690-150122740	PrEC	prostate:	n/a
8	chr1:150121441-150121491	HNPCEpiC	eye:	n/a
9	chr1:150121725-150121775	ProgFib	skin:	n/a
10	chr1:150121813-150121863	AG10803	skin:	n/a
11	chr1:150122016-150122066	AG09309	skin:	n/a
12	chr1:150121441-150121491	BJ	skin:	n/a
13	chr1:150121725-150121775	HEK293	kidney:	embryo
14	chr1:150121441-150121491	GM06990	blood:	n/a
15	chr1:150122016-150122066	HRE	kidney:	n/a
16	chr1:150123146-150123196	PrEC	prostate:	n/a
17	chr1:150123146-150123196	AG04449	skin:	fetal
18	chr1:150122654-150122704	HCM	heart:	n/a
19	chr1:150121441-150121491	HEK293	kidney:	embryo
20	chr1:150123146-150123196	NH-A	brain:	n/a
21	chr1:150122500-150122550	HRPEpiC	eye:	n/a
22	chr1:150122654-150122704	T-47D	breast:	n/a
23	chr1:150122654-150122704	HepG2	liver:	n/a
24	chr1:150121727-150121777	NH-A	brain:	n/a
25	chr1:150123146-150123196	HUVEC	blood vessel:	n/a
26	chr1:150123146-150123196	AoSMC	blood vessel:	n/a
27	chr1:150122016-150122066	U87	brain:	n/a
28	chr1:150121813-150121863	CMK	blood:	n/a
29	chr1:150121441-150121491	HCF	heart:	n/a
30	chr1:150123490-150123540	ProgFib	skin:	n/a
31	chr1:150122278-150122328	IMR90	lung:	fetal
32	chr1:150121725-150121775	H1-hESC	embryonic stem cell:	embryo
33	chr1:150123037-150123087	GM12891	blood:	n/a
34	chr1:150121727-150121777	HepG2	liver:	n/a
35	chr1:150121441-150121491	SKMC	muscle:	n/a
36	chr1:150122654-150122704	LNCaP	prostate:	n/a
37	chr1:150121813-150121863	T-47D	breast:	n/a
38	chr1:150122690-150122740	HRCEpiC	kidney:	n/a
39	chr1:150121813-150121863	GM12878	blood:	n/a
40	chr1:150121727-150121777	HRPEpiC	eye:	n/a
41	chr1:150122500-150122550	HL-60	blood:	n/a
42	chr1:150122278-150122328	NHBE	bronchial:	n/a
43	chr1:150121725-150121775	SK-N-SH	brain:	n/a
44	chr1:150121813-150121863	PFSK-1	brain:	n/a
45	chr1:150121813-150121863	NHBE	bronchial:	n/a
46	chr1:150122016-150122066	HepG2	liver:	n/a
47	chr1:150122690-150122740	SK-N-SH	brain:	n/a
48	chr1:150123490-150123540	H1-hESC	embryonic stem cell:	embryo
49	chr1:150123490-150123540	HUVEC	blood vessel:	n/a
50	chr1:150123146-150123196	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150120783..150123550-chr1:150205612..150208208,2	K562	blood:
2	chr1:150038076..150040720-chr1:150121290..150124944,3	K562	blood:
3	chr1:150038270..150039782-chr1:150120828..150123212,2	MCF-7	breast:
4	chr1:150047834..150051741-chr1:150120632..150125901,6	MCF-7	breast:
5	chr1:150048782..150051113-chr1:150122010..150123547,2	MCF-7	breast:
6	chr1:149858428..149861867-chr1:150121197..150123185,3	K562	blood:
7	chr1:150121553..150123075-chr6:27798165..27799927,2	MCF-7	breast:
8	chr1:150121582..150124449-chr1:150206466..150208946,2	MCF-7	breast:
9	chr1:150033546..150035301-chr1:150123056..150125109,2	K562	blood:
10	chr1:150121990..150123693-chr1:150240466..150243151,2	K562	blood:
11	chr1:150121160..150123717-chr1:150206817..150209674,5	MCF-7	breast:
12	chr1:149855855..149861458-chr1:150123805..150130441,8	MCF-7	breast:
13	chr1:149856777..149860438-chr1:150121197..150124713,4	K562	blood:
14	chr1:149858884..149861217-chr1:150120977..150123082,2	MCF-7	breast:
15	chr1:149855859..149860778-chr1:150121854..150124549,4	MCF-7	breast:
16	chr1:150063760..150067981-chr1:150120061..150123839,7	MCF-7	breast:
17	chr1:150120710..150123122-chr1:155106674..155108306,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPS45-1	chr1:150122827-150123248	NONHSAT006272

Variant related genes	Relation type
PLEKHO1	TF binding region
PLEKHO1	CpG island
ENSG00000184678	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000197914	chromatin interactions
ENSG00000143401	chromatin interactions
ENSG00000169241	chromatin interactions
ENSG00000222222	chromatin interactions
ENSG00000118292	chromatin interactions
ENSG00000136631	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000117362	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587714309	chr1:150120885-150120886	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs587610965	chr1:150120897-150120898	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs587644185	chr1:150120975-150120976	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs187284171	chr1:150120996-150120997	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs587600776	chr1:150121002-150121003	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs191730246	chr1:150121013-150121014	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs587752237	chr1:150121028-150121029	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs182826783	chr1:150121059-150121060	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs11586396	chr1:150121079-150121080	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs587760432	chr1:150121090-150121091	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs587610000	chr1:150121152-150121153	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs587692204	chr1:150121189-150121190	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs139433858	chr1:150121192-150121193	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs587623714	chr1:150121195-150121196	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs587640948	chr1:150121224-150121225	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs375855318	chr1:150121226-150121227	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs587704089	chr1:150121233-150121234	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs587759772	chr1:150121298-150121299	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs149891470	chr1:150121312-150121313	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs587689625	chr1:150121388-150121389	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs188741997	chr1:150121424-150121425	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs74124327	chr1:150121437-150121438	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76123009	chr1:150121546-150121547	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs587597916	chr1:150121654-150121655	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs587650442	chr1:150121737-150121738	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs587727879	chr1:150121765-150121766	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs587623389	chr1:150121769-150121770	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs111988509	chr1:150121826-150121827	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs587680782	chr1:150121864-150121865	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs587760172	chr1:150121869-150121870	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs192810588	chr1:150121894-150121895	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs76413654	chr1:150121929-150121930	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs587749421	chr1:150121971-150121972	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs587752942	chr1:150121995-150121996	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs369887217	chr1:150122066-150122067	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs372730107	chr1:150122072-150122073	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs587679792	chr1:150122074-150122075	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs587734903	chr1:150122099-150122100	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs587632720	chr1:150122110-150122111	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs587687723	chr1:150122120-150122121	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs587762656	chr1:150122177-150122178	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs185723031	chr1:150122178-150122179	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs76541931	chr1:150122269-150122270	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs76050098	chr1:150122344-150122345	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs189274971	chr1:150122369-150122370	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	mRNA abundance
46	rs587643363	chr1:150122425-150122426	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs587751164	chr1:150122468-150122469	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs4553237	chr1:150122493-150122494	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183546410	chr1:150122523-150122524	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs587774051	chr1:150122567-150122568	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150040400-150121400	Weak transcription	Pancreas	Pancrea
2	chr1:150067400-150121200	Weak transcription	Colonic Mucosa	Colon
3	chr1:150069000-150121000	Weak transcription	NHLF	lung
4	chr1:150071000-150121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:150072400-150121000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:150079200-150121000	Weak transcription	Thymus	Thymus
7	chr1:150085400-150121200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:150085400-150121200	Weak transcription	Psoas Muscle	Psoas
9	chr1:150085600-150121200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:150085800-150121000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:150087000-150121200	Weak transcription	Esophagus	oesophagus
12	chr1:150087000-150121200	Weak transcription	Placenta	Placenta
13	chr1:150087800-150121000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:150091400-150121000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:150091800-150121000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:150094200-150121200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:150099400-150121200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:150101000-150121200	Weak transcription	Lung	lung
19	chr1:150105200-150121000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:150105200-150121200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:150108000-150121400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:150108200-150121200	Weak transcription	Osteobl	bone
23	chr1:150108800-150121400	Weak transcription	Brain Substantia Nigra	brain
24	chr1:150111400-150121200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:150111600-150121000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:150113400-150121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:150114600-150121400	Weak transcription	Small Intestine	intestine
28	chr1:150114800-150125200	Weak transcription	Hela-S3	cervix
29	chr1:150117200-150121200	Weak transcription	Left Ventricle	heart
30	chr1:150117200-150121400	Weak transcription	Spleen	Spleen
31	chr1:150117200-150121600	Weak transcription	Gastric	stomach
32	chr1:150117400-150121200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:150118800-150121000	Weak transcription	HSMM	muscle
34	chr1:150118800-150121000	Weak transcription	HSMMtube	muscle
35	chr1:150119000-150121000	Enhancers	Primary B cells from peripheral blood	blood
36	chr1:150119200-150121200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:150119600-150121200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:150119600-150121200	Weak transcription	Ovary	ovary
39	chr1:150119600-150121400	Weak transcription	K562	blood
40	chr1:150119800-150121000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:150119800-150121000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:150120200-150121000	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr1:150120200-150121000	Flanking Active TSS	Fetal Brain Female	brain
44	chr1:150120200-150121000	Enhancers	Fetal Lung	lung
45	chr1:150120200-150121000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:150120200-150121000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr1:150120200-150121200	Bivalent Enhancer	Fetal Thymus	thymus
48	chr1:150120200-150121800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr1:150120200-150121800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:150120200-150123200	Active TSS	Stomach Smooth Muscle	stomach

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