Variant report

Variant	esv3437004
Chromosome Location	chr1:150520753-150523301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:568)
CpG islands
(count:855)
Chromatin interactive
region (count:23)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:150521966-150522372	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:150521164-150521729	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr1:150521045-150522329	K562	blood:	n/a	n/a
4	BHLHE40	chr1:150523028-150523209	K562	blood:	n/a	n/a
5	BRCA1	chr1:150521046-150521574	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr1:150520825-150521775	K562	blood:	n/a	n/a
7	CCNT2	chr1:150522754-150522773	K562	blood:	n/a	n/a
8	CCNT2	chr1:150521235-150522194	K562	blood:	n/a	chr1:150521994-150522003
9	CCNT2	chr1:150523256-150523454	K562	blood:	n/a	n/a
10	CEBPB	chr1:150521318-150521694	HepG2	liver:	n/a	n/a
11	CEBPB	chr1:150521337-150521625	K562	blood:	n/a	n/a
12	CEBPB	chr1:150521383-150521680	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr1:150521342-150521678	HepG2	liver:	n/a	n/a
14	CEBPB	chr1:150521393-150521633	A549	lung:	n/a	n/a
15	CEBPB	chr1:150521214-150521698	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr1:150521433-150521594	HepG2	liver:	n/a	n/a
17	CEBPB	chr1:150521329-150521642	IMR90	lung:	n/a	n/a
18	CHD2	chr1:150523084-150523273	HepG2	liver:	n/a	n/a
19	CHD2	chr1:150522571-150522640	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr1:150522002-150522209	Hela-S3	cervix:	n/a	chr1:150522196-150522206
21	CHD2	chr1:150522498-150522532	K562	blood:	n/a	n/a
22	CHD2	chr1:150522314-150522330	HepG2	liver:	n/a	n/a
23	CHD2	chr1:150521173-150521679	K562	blood:	n/a	n/a
24	CHD2	chr1:150521102-150521624	HepG2	liver:	n/a	n/a
25	CHD2	chr1:150521224-150521706	Hela-S3	cervix:	n/a	n/a
26	CREB1	chr1:150521181-150521798	A549	lung:	n/a	n/a
27	CTCF	chr1:150521389-150521484	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr1:150521631-150521651	GM13976	blood:	n/a	n/a
29	CTCF	chr1:150521335-150521760	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:150521334-150521534	HepG2	liver:	n/a	n/a
31	CTCF	chr1:150521360-150521510	HAc	cerebellar:	n/a	n/a
32	CTCF	chr1:150522138-150522267	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr1:150522080-150522230	AG09309	skin:	n/a	n/a
34	CTCF	chr1:150522160-150522310	NHLF	lung:	n/a	n/a
35	CTCF	chr1:150522080-150522230	Caco-2	colon:	n/a	n/a
36	CTCF	chr1:150521320-150521470	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr1:150521628-150521741	GM12891	blood:	n/a	n/a
38	CTCF	chr1:150521340-150521490	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr1:150521627-150521761	GM13977	blood:	n/a	n/a
40	CTCF	chr1:150522120-150522270	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr1:150521320-150521470	NB4	blood:	n/a	n/a
42	CTCF	chr1:150521380-150521530	GM12865	blood:	n/a	n/a
43	CTCF	chr1:150521339-150521530	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:150521720-150521870	GM12866	blood:	n/a	n/a
45	CTCF	chr1:150521380-150521530	NHLF	lung:	n/a	n/a
46	CTCF	chr1:150521040-150521190	GM12873	blood:	n/a	n/a
47	CTCF	chr1:150521320-150521470	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr1:150522084-150522283	HepG2	liver:	n/a	n/a
49	CTCF	chr1:150521624-150521723	GM12878	blood:	n/a	n/a
50	CTCF	chr1:150521640-150521790	GM12867	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150521190-150521240	AG10803	skin:	n/a
2	chr1:150521190-150521240	AG10803	skin:	n/a
3	chr1:150521777-150521827	SKMC	muscle:	n/a
4	chr1:150521958-150522008	ProgFib	skin:	n/a
5	chr1:150521836-150521886	HIPEpiC	eye:	n/a
6	chr1:150522367-150522417	LNCaP	prostate:	n/a
7	chr1:150521777-150521827	ECC-1	luminal epithelium:	n/a
8	chr1:150521404-150521454	PFSK-1	brain:	n/a
9	chr1:150521958-150522008	SK-N-MC	brain:	n/a
10	chr1:150521241-150521291	HL-60	blood:	n/a
11	chr1:150521562-150521612	MCF-7	breast:	n/a
12	chr1:150521201-150521251	HCM	heart:	n/a
13	chr1:150521201-150521251	MCF-7	breast:	n/a
14	chr1:150521562-150521612	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:150521562-150521612	SAEC	small airway:	n/a
16	chr1:150521241-150521291	HUVEC	blood vessel:	n/a
17	chr1:150521647-150521697	ovcar-3	ovarian:	n/a
18	chr1:150521958-150522008	NH-A	brain:	n/a
19	chr1:150522266-150522316	HMEC	breast:	n/a
20	chr1:150522266-150522316	T-47D	breast:	n/a
21	chr1:150521836-150521886	SK-N-SH_RA	brain:	n/a
22	chr1:150522367-150522417	HEEpiC	esophagus:	n/a
23	chr1:150521836-150521886	SK-N-SH	brain:	n/a
24	chr1:150521562-150521612	AG09319	gingival:	n/a
25	chr1:150521766-150521816	SK-N-SH	brain:	n/a
26	chr1:150521766-150521816	LNCaP	prostate:	n/a
27	chr1:150521562-150521612	HEEpiC	esophagus:	n/a
28	chr1:150521241-150521291	AoSMC	blood vessel:	n/a
29	chr1:150521404-150521454	HAEpiC	amniotic membrane:	n/a
30	chr1:150521404-150521454	AG04449	skin:	fetal
31	chr1:150521190-150521240	IMR90	lung:	fetal
32	chr1:150522121-150522171	HIPEpiC	eye:	n/a
33	chr1:150521777-150521827	AG04450	lung:	fetal
34	chr1:150521404-150521454	AG09319	gingival:	n/a
35	chr1:150522121-150522171	BE2_C	brain:	n/a
36	chr1:150521562-150521612	GM19239	blood:	n/a
37	chr1:150521190-150521240	H1-hESC	embryonic stem cell:	embryo
38	chr1:150522266-150522316	HEEpiC	esophagus:	n/a
39	chr1:150521647-150521697	A549	lung:	n/a
40	chr1:150521562-150521612	H1-hESC	embryonic stem cell:	embryo
41	chr1:150522367-150522417	HEK293	kidney:	embryo
42	chr1:150521562-150521612	Caco-2	colon:	n/a
43	chr1:150521777-150521827	LNCaP	prostate:	n/a
44	chr1:150521777-150521827	K562	blood:	n/a
45	chr1:150522266-150522316	MCF10A-Er-Src	breast:	n/a
46	chr1:150521241-150521291	GM12892	blood:	n/a
47	chr1:150521647-150521697	T-47D	breast:	n/a
48	chr1:150522266-150522316	U87	brain:	n/a
49	chr1:150521241-150521291	AG09319	gingival:	n/a
50	chr1:150523231-150523281	GM06990	blood:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150521288..150521796-chr14:20938138..20938813,2	Hela-S3	cervix:
2	chr1:150520854..150524966-chr1:150599341..150603058,4	K562	blood:
3	chr1:150458118..150461224-chr1:150521416..150523335,4	K562	blood:
4	chr1:150520253..150522845-chr1:150539005..150541527,2	MCF-7	breast:
5	chr1:150227836..150230192-chr1:150521467..150523893,3	MCF-7	breast:
6	chr1:150518651..150520158-chr1:150520276..150521871,2	MCF-7	breast:
7	chr1:150521379..150521971-chr12:50677163..50677877,2	NB4	blood:
8	chr1:78148599..78149427-chr1:150521664..150522241,2	Hela-S3	cervix:
9	chr1:150520959..150521729-chr3:64009113..64009945,2	MCF-7	breast:
10	chr1:150487333..150489679-chr1:150520233..150523176,3	MCF-7	breast:
11	chr1:150523106..150526873-chr1:150601148..150603781,4	K562	blood:
12	chr1:28974550..28975376-chr1:150521802..150522571,2	Hela-S3	cervix:
13	chr1:150459991..150463132-chr1:150521583..150524853,3	K562	blood:
14	chr1:150479220..150481120-chr1:150520088..150521820,2	K562	blood:
15	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
16	chr1:150334615..150337675-chr1:150520446..150522631,3	K562	blood:
17	chr1:150521569..150522101-chr17:81037080..81037984,2	Hela-S3	cervix:
18	chr1:150518161..150524064-chr1:150532470..150535577,8	MCF-7	breast:
19	chr1:150205674..150207849-chr1:150521366..150523683,3	K562	blood:
20	chr1:150518754..150521132-chr1:150522250..150524935,2	MCF-7	breast:
21	chr1:150459018..150460856-chr1:150519254..150522007,2	MCF-7	breast:
22	chr1:150521664..150522336-chr6:26020248..26020914,2	Hela-S3	cervix:
23	chr1:150335977..150337917-chr1:150522488..150525265,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf138-1	chr1:150521040-150521226	ENSG00000237781.1
2	lnc-C1orf138-1	chr1:150521040-150521226	ENSG00000237781.2
3	lnc-ADAMTSL4-4	chr1:150517238-150520797	NONHSAT006304

No data

Variant related genes	Relation type
MIR4257	TF binding region
ADAMTSL4	TF binding region
ENSG00000225996	TF binding region
MIR4257	CpG island
ADAMTSL4	CpG island
ENSG00000225996	CpG island
ENSG00000203804	chromatin interactions
ENSG00000163125	chromatin interactions
ENSG00000271845	chromatin interactions
ENSG00000264508	chromatin interactions
ENSG00000264553	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000143382	chromatin interactions
ENSG00000143420	chromatin interactions
ENSG00000118298	chromatin interactions
ENSG00000050405	chromatin interactions
ENSG00000143401	chromatin interactions
ENSG00000036549	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000198805	chromatin interactions
ENSG00000228126	chromatin interactions
ENSG00000143369	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000176845	chromatin interactions
ENSG00000143374	chromatin interactions
ENSG00000198366	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370796681	chr1:150520769-150520770	Weak transcription Enhancers	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
2	rs587751938	chr1:150520777-150520778	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
3	rs587647817	chr1:150520778-150520779	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
4	rs113352709	chr1:150520783-150520784	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
5	rs587734297	chr1:150520860-150520861	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs587613793	chr1:150520880-150520881	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs143976390	chr1:150520884-150520885	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs587770076	chr1:150520889-150520890	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs148379246	chr1:150520898-150520899	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs11415851	chr1:150520899-150520900	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs374083471	chr1:150520918-150520919	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs12060121	chr1:150520952-150520953	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs587759694	chr1:150520970-150520971	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs186849536	chr1:150520980-150520981	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs6663989	chr1:150521026-150521027	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12044318	chr1:150521080-150521081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
17	rs6668850	chr1:150521099-150521100	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146159203	chr1:150521173-150521174	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
19	rs190500173	chr1:150521229-150521230	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs587727620	chr1:150521233-150521234	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs183311608	chr1:150521242-150521243	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs28678181	chr1:150521250-150521251	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs587727576	chr1:150521287-150521288	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs587623420	chr1:150521288-150521289	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs1040008	chr1:150521304-150521305	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375387658	chr1:150521334-150521335	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs587628909	chr1:150521420-150521421	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs143102588	chr1:150521457-150521458	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs78984162	chr1:150521471-150521472	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs587668450	chr1:150521596-150521597	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs587742477	chr1:150521619-150521620	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs111381143	chr1:150521674-150521675	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
33	rs587622249	chr1:150521678-150521679	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
34	rs587594166	chr1:150521965-150521966	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs587701979	chr1:150522077-150522078	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs12758864	chr1:150522103-150522104	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs74124915	chr1:150522114-150522115	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4971020	chr1:150522242-150522243	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs587681320	chr1:150522245-150522246	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs112378465	chr1:150522295-150522296	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs12061739	chr1:150522313-150522314	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs587633196	chr1:150522337-150522338	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs587718904	chr1:150522338-150522339	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs587771487	chr1:150522354-150522355	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs587670788	chr1:150522358-150522359	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs587725841	chr1:150522415-150522416	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs587623200	chr1:150522464-150522465	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs202107709	chr1:150522468-150522469	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs10668635	chr1:150522471-150522472	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs374042827	chr1:150522472-150522473	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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	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
Gastrointestinal cancer	16790693	CNVD

Chromatin state (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150505600-150521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:150505800-150521000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:150511200-150521000	Weak transcription	A549	lung
4	chr1:150511400-150520800	Weak transcription	Hela-S3	cervix
5	chr1:150511400-150521000	Weak transcription	NHDF-Ad	bronchial
6	chr1:150511600-150521200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:150515200-150521000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:150516400-150521000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:150516400-150521000	Weak transcription	Right Atrium	heart
10	chr1:150516600-150520800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:150516600-150521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:150516600-150521000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:150516600-150521000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:150516600-150521000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:150516600-150521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:150517000-150520800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:150517000-150521000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:150517000-150521000	Weak transcription	Adipose Nuclei	Adipose
19	chr1:150517000-150521000	Weak transcription	Liver	Liver
20	chr1:150517000-150521000	Weak transcription	HSMM	muscle
21	chr1:150517000-150521000	Weak transcription	HSMMtube	muscle
22	chr1:150517200-150520800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:150518000-150521000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:150518200-150521000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:150518400-150520800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:150518400-150520800	Weak transcription	HepG2	liver
27	chr1:150518400-150521000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:150518400-150521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:150518400-150521000	Weak transcription	Fetal Heart	heart
30	chr1:150519200-150521000	Weak transcription	Placenta	Placenta
31	chr1:150519800-150520800	Weak transcription	K562	blood
32	chr1:150520400-150521000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:150520600-150520800	Enhancers	Primary B cells from cord blood	blood
34	chr1:150520600-150521000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:150520600-150521000	Weak transcription	Gastric	stomach
36	chr1:150520800-150521000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:150520800-150521000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:150520800-150521000	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:150520800-150521000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr1:150520800-150521000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:150520800-150521000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:150520800-150521000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:150520800-150521000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:150520800-150521000	Enhancers	Colonic Mucosa	Colon
45	chr1:150520800-150521000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:150520800-150521000	Enhancers	Fetal Muscle Leg	muscle
47	chr1:150520800-150521000	Enhancers	Pancreas	Pancrea
48	chr1:150520800-150521000	Active TSS	Right Ventricle	heart
49	chr1:150520800-150521000	Active TSS	Stomach Smooth Muscle	stomach
50	chr1:150520800-150521000	Active TSS	HepG2	liver

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