Variant report

Variant	nsv535157
Chromosome Location	chr1:150552692-150575941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:271)
CpG islands
(count:184)
Chromatin interactive
region (count:60)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:150569654-150569773	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:150560200-150560228	K562	blood:	n/a	n/a
3	ATF2	chr1:150552283-150552807	H1-hESC	embryonic stem cell:	n/a	chr1:150552331-150552338
4	ATF2	chr1:150552227-150552701	H1-hESC	embryonic stem cell:	n/a	chr1:150552331-150552338
5	BCL3	chr1:150551838-150552858	A549	lung:	n/a	chr1:150552016-150552025 chr1:150552071-150552080 chr1:150552017-150552030 chr1:150552074-150552083
6	BHLHE40	chr1:150551656-150552710	GM12878	blood:	n/a	n/a
7	CBX3	chr1:150552245-150552758	K562	blood:	n/a	n/a
8	CEBPB	chr1:150573312-150573410	H1-hESC	embryonic stem cell:	n/a	chr1:150573354-150573365
9	CEBPB	chr1:150573131-150573575	HepG2	liver:	n/a	chr1:150573354-150573365
10	CEBPB	chr1:150573207-150573518	A549	lung:	n/a	chr1:150573354-150573365
11	CEBPB	chr1:150573140-150573539	MCF-7	breast:	n/a	chr1:150573354-150573365
12	CEBPB	chr1:150565005-150565168	HepG2	liver:	n/a	chr1:150565096-150565107
13	CEBPB	chr1:150550798-150552753	MCF-7	breast:	n/a	n/a
14	CEBPB	chr1:150573231-150573465	HepG2	liver:	n/a	chr1:150573354-150573365
15	CEBPB	chr1:150565010-150565210	K562	blood:	n/a	chr1:150565096-150565107
16	CEBPB	chr1:150573218-150573541	HepG2	liver:	n/a	chr1:150573354-150573365
17	CEBPB	chr1:150564978-150565180	H1-hESC	embryonic stem cell:	n/a	chr1:150565096-150565107
18	CEBPB	chr1:150573166-150573522	A549	lung:	n/a	chr1:150573354-150573365
19	CEBPB	chr1:150573254-150573458	Hela-S3	cervix:	n/a	chr1:150573354-150573365
20	CEBPB	chr1:150573278-150573477	K562	blood:	n/a	chr1:150573354-150573365
21	CEBPB	chr1:150573234-150573490	K562	blood:	n/a	chr1:150573354-150573365
22	CEBPB	chr1:150573207-150573539	HepG2	liver:	n/a	chr1:150573354-150573365
23	CEBPB	chr1:150573286-150573504	IMR90	lung:	n/a	chr1:150573354-150573365
24	CEBPB	chr1:150565008-150565263	HepG2	liver:	n/a	chr1:150565096-150565107
25	CEBPB	chr1:150573099-150573635	A549	lung:	n/a	chr1:150573354-150573365
26	CEBPB	chr1:150573240-150573513	K562	blood:	n/a	chr1:150573354-150573365
27	CEBPB	chr1:150551879-150552726	A549	lung:	n/a	n/a
28	CEBPD	chr1:150573151-150573433	HepG2	liver:	n/a	n/a
29	CEBPD	chr1:150573242-150573501	HepG2	liver:	n/a	n/a
30	CHD1	chr1:150547753-150552802	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr1:150546653-150553181	IMR90	lung:	n/a	n/a
32	CTCF	chr1:150566425-150566477	GM13976	blood:	n/a	n/a
33	CTCF	chr1:150557385-150557495	GM20000	blood:	n/a	n/a
34	CTCF	chr1:150567190-150567271	GM13976	blood:	n/a	n/a
35	ELF1	chr1:150551591-150552716	HCT-116	colon:	n/a	chr1:150552014-150552023 chr1:150552070-150552079 chr1:150552067-150552080 chr1:150552017-150552026
36	ELF1	chr1:150550622-150552888	MCF-7	breast:	n/a	chr1:150552014-150552023 chr1:150552070-150552079 chr1:150552067-150552080 chr1:150552017-150552026
37	ELF1	chr1:150551580-150552726	HCT-116	colon:	n/a	chr1:150552014-150552023 chr1:150552070-150552079 chr1:150552067-150552080 chr1:150552017-150552026
38	EP300	chr1:150551822-150552698	K562	blood:	n/a	chr1:150552342-150552358 chr1:150552015-150552024 chr1:150552069-150552083
39	EP300	chr1:150573233-150573566	HepG2	liver:	n/a	n/a
40	EP300	chr1:150573161-150573599	HepG2	liver:	n/a	n/a
41	ESRRA	chr1:150551549-150552856	GM12878	blood:	n/a	n/a
42	FOS	chr1:150568676-150568855	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr1:150568626-150568891	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr1:150573408-150573515	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr1:150553542-150553753	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr1:150573242-150573628	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr1:150575921-150575922	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr1:150553525-150553780	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr1:150573240-150573538	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr1:150565006-150565207	MCF10A-Er-Src	breast:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150554875-150554925	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:150554875-150554925	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:150552817-150552867	HMEC	breast:	n/a
4	chr1:150552817-150552867	HUVEC	blood vessel:	n/a
5	chr1:150552671-150552721	HIPEpiC	eye:	n/a
6	chr1:150552817-150552867	AG09319	gingival:	n/a
7	chr1:150552671-150552721	MCF10A-Er-Src	breast:	n/a
8	chr1:150554875-150554925	AoSMC	blood vessel:	n/a
9	chr1:150554875-150554925	K562	blood:	n/a
10	chr1:150552817-150552867	HepG2	liver:	n/a
11	chr1:150554875-150554925	HRCEpiC	kidney:	n/a
12	chr1:150554875-150554925	NB4	blood:	n/a
13	chr1:150552671-150552721	AG09309	skin:	n/a
14	chr1:150552817-150552867	ProgFib	skin:	n/a
15	chr1:150554875-150554925	HRPEpiC	eye:	n/a
16	chr1:150554875-150554925	HMEC	breast:	n/a
17	chr1:150552671-150552721	NHBE	bronchial:	n/a
18	chr1:150554875-150554925	H1-hESC	embryonic stem cell:	embryo
19	chr1:150552817-150552867	ECC-1	luminal epithelium:	n/a
20	chr1:150554875-150554925	HEEpiC	esophagus:	n/a
21	chr1:150552671-150552721	HRPEpiC	eye:	n/a
22	chr1:150552671-150552721	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:150552671-150552721	NT2-D1	testis:	n/a
24	chr1:150554875-150554925	U87	brain:	n/a
25	chr1:150552671-150552721	HCF	heart:	n/a
26	chr1:150552671-150552721	K562	blood:	n/a
27	chr1:150552817-150552867	HIPEpiC	eye:	n/a
28	chr1:150554875-150554925	HCM	heart:	n/a
29	chr1:150554875-150554925	NH-A	brain:	n/a
30	chr1:150552817-150552867	PFSK-1	brain:	n/a
31	chr1:150554875-150554925	ECC-1	luminal epithelium:	n/a
32	chr1:150552817-150552867	SK-N-MC	brain:	n/a
33	chr1:150552817-150552867	AG04449	skin:	fetal
34	chr1:150552671-150552721	GM12878	blood:	n/a
35	chr1:150552671-150552721	HCM	heart:	n/a
36	chr1:150552817-150552867	BE2_C	brain:	n/a
37	chr1:150554875-150554925	AG04449	skin:	fetal
38	chr1:150552671-150552721	GM12892	blood:	n/a
39	chr1:150554875-150554925	AG04450	lung:	fetal
40	chr1:150554875-150554925	AG09319	gingival:	n/a
41	chr1:150554875-150554925	RPTEC	kidney:	n/a
42	chr1:150552817-150552867	BJ	skin:	n/a
43	chr1:150554875-150554925	PrEC	prostate:	n/a
44	chr1:150554875-150554925	BE2_C	brain:	n/a
45	chr1:150552671-150552721	MCF-7	breast:	n/a
46	chr1:150552671-150552721	CMK	blood:	n/a
47	chr1:150552671-150552721	Caco-2	colon:	n/a
48	chr1:150554875-150554925	SK-N-SH	brain:	n/a
49	chr1:150552817-150552867	NB4	blood:	n/a
50	chr1:150552817-150552867	CMK	blood:	n/a

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:150564483..150566353-chr1:150566982..150568614,2	MCF-7	breast:
2	chr1:150562735..150566350-chr1:150574658..150578740,6	K562	blood:
3	chr1:150569191..150572175-chr1:150574957..150578897,3	K562	blood:
4	chr1:150564762..150567564-chr1:150569337..150571490,2	K562	blood:
5	chr1:150226452..150228331-chr1:150575620..150577164,2	MCF-7	breast:
6	chr1:150569191..150572175-chr1:150574957..150578897,3	K562	blood:
7	chr1:150551507..150553628-chr1:150668472..150670953,2	K562	blood:
8	chr1:150549850..150554291-chr1:150574089..150582135,21	MCF-7	breast:
9	chr1:150549378..150552816-chr1:151028901..151032004,3	K562	blood:
10	chr1:150567570..150570459-chr1:150574436..150576369,2	MCF-7	breast:
11	chr1:150549047..150553046-chr1:150599453..150603954,9	MCF-7	breast:
12	chr1:150551177..150554624-chr1:150569491..150572047,3	K562	blood:
13	chr1:150554954..150558805-chr1:150562851..150567781,4	K562	blood:
14	chr1:150564762..150567564-chr1:150569337..150571490,2	K562	blood:
15	chr1:150575574..150579805-chr1:150584520..150587966,8	K562	blood:
16	chr1:150554954..150558805-chr1:150562851..150567781,4	K562	blood:
17	chr1:150575837..150579446-chr1:150579554..150584365,8	K562	blood:
18	chr1:150562735..150566350-chr1:150574658..150578740,6	K562	blood:
19	chr1:150575575..150579360-chr1:150586267..150590184,5	MCF-7	breast:
20	chr1:150547577..150553391-chr1:150562900..150573800,12	MCF-7	breast:
21	chr1:150549744..150554023-chr1:150847608..150851573,5	K562	blood:
22	chr1:150550706..150553008-chr1:150788888..150791389,2	K562	blood:
23	chr1:150540972..150543732-chr1:150565800..150568772,3	MCF-7	breast:
24	chr1:150458615..150462130-chr1:150550221..150553114,4	K562	blood:
25	chr1:150548752..150555486-chr1:150599368..150605834,15	MCF-7	breast:
26	chr1:150550605..150553329-chr1:151136705..151138908,2	K562	blood:
27	chr1:150564933..150567776-chr1:150569439..150573789,3	MCF-7	breast:
28	chr1:150567570..150570459-chr1:150574436..150576369,2	MCF-7	breast:
29	chr1:150547577..150553391-chr1:150562900..150573800,12	MCF-7	breast:
30	chr1:150551078..150552936-chr1:150667990..150671349,4	K562	blood:
31	chr1:150541344..150544160-chr1:150572544..150574410,2	K562	blood:
32	chr1:150552057..150552895-chr7:139025854..139026496,2	Hela-S3	cervix:
33	chr1:150549380..150556585-chr1:150561290..150565762,10	K562	blood:
34	chr1:150547964..150550614-chr1:150563444..150566002,2	K562	blood:
35	chr1:150545388..150547945-chr1:150570621..150572716,2	K562	blood:
36	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
37	chr1:150572296..150575509-chr1:150575606..150577331,3	K562	blood:
38	chr1:150575836..150578042-chr1:150601630..150604392,2	K562	blood:
39	chr1:150336951..150339274-chr1:150551327..150552882,2	K562	blood:
40	chr1:150575672..150578383-chr1:150583826..150586849,3	MCF-7	breast:
41	chr1:150550714..150554417-chr1:150561290..150565440,4	K562	blood:
42	chr1:150548124..150553459-chr1:150571951..150579395,15	MCF-7	breast:
43	chr1:150548124..150553459-chr1:150571951..150579395,15	MCF-7	breast:
44	chr1:150532872..150535216-chr1:150575745..150578674,3	MCF-7	breast:
45	chr1:150550625..150555409-chr1:150574818..150579409,12	K562	blood:
46	chr1:150550164..150555275-chr1:150782862..150788394,7	MCF-7	breast:
47	chr1:150550567..150552845-chr1:151042071..151045056,2	MCF-7	breast:
48	chr1:150547986..150553838-chr1:150598744..150606232,19	K562	blood:
49	chr1:150545934..150547649-chr1:150567302..150569853,2	K562	blood:
50	chr1:150562742..150565276-chr1:150576021..150578249,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTSL4-6	chr1:150574454-150574539	l_134_chr1:150571617-150577187_ovary
2	lnc-ADAMTSL4-6	chr1:150571618-150571837	l_134_chr1:150571617-150577187_ovary
3	lnc-ADAMTSL4-5	chr1:150552352-150552695	NONHSAT006316
4	lnc-ADAMTSL4-2	chr1:150565059-150566262	ENSG00000248003

No data

Variant related genes	Relation type
ENSG00000253047	TF binding region
MCL1	TF binding region
ENSG00000253047	CpG island
MCL1	CpG island
ENSG00000163155	chromatin interactions
ENSG00000143409	chromatin interactions
ENSG00000264553	chromatin interactions
ENSG00000200175	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000231073	chromatin interactions
ENSG00000143363	chromatin interactions
ENSG00000164898	chromatin interactions
ENSG00000197622	chromatin interactions
ENSG00000143437	chromatin interactions
ENSG00000143458	chromatin interactions
ENSG00000143382	chromatin interactions
ENSG00000225996	chromatin interactions
ENSG00000143374	chromatin interactions
ENSG00000143457	chromatin interactions
ENSG00000163125	chromatin interactions
ENSG00000163156	chromatin interactions
ENSG00000269955	chromatin interactions
ENSG00000203804	chromatin interactions
ENSG00000213190	chromatin interactions
ENSG00000143420	chromatin interactions
ENSG00000264584	chromatin interactions
ENSG00000253047	chromatin interactions
HSPA1B	miRNA target sites

Extended variants
information (count: 749 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148910052	chr1:150552715-150552716	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
2	rs141805488	chr1:150552732-150552733	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
3	rs180969321	chr1:150552742-150552743	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
4	rs150481431	chr1:150552745-150552746	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
5	rs375250678	chr1:150552803-150552804	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
6	rs185000594	chr1:150552814-150552815	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
7	rs587727149	chr1:150552818-150552819	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
8	rs587618570	chr1:150552820-150552821	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs115878499	chr1:150552833-150552834	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
10	rs1913116	chr1:150552962-150552963	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188734855	chr1:150552981-150552982	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs587702076	chr1:150552989-150552990	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs202070800	chr1:150553017-150553018	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs181305545	chr1:150553056-150553057	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs186196526	chr1:150553084-150553085	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs35822171	chr1:150553195-150553196	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143302158	chr1:150553213-150553214	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs587637189	chr1:150553263-150553264	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs587722834	chr1:150553273-150553274	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs191894868	chr1:150553306-150553307	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs587660361	chr1:150553312-150553313	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs138848736	chr1:150553337-150553338	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs4970918	chr1:150553348-150553349	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs587670211	chr1:150553364-150553365	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs183325156	chr1:150553430-150553431	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs6661538	chr1:150553445-150553446	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs587661562	chr1:150553540-150553541	Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs186476946	chr1:150553560-150553561	Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs587747121	chr1:150553604-150553605	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs371999795	chr1:150553654-150553655	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs34994736	chr1:150553659-150553660	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs587734596	chr1:150553665-150553666	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs587630542	chr1:150553682-150553683	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs587688345	chr1:150553746-150553747	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs115795180	chr1:150553757-150553758	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs587628095	chr1:150553895-150553896	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs587678978	chr1:150554025-150554026	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs587774838	chr1:150554029-150554030	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs587660408	chr1:150554036-150554037	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs587713343	chr1:150554037-150554038	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs56394427	chr1:150554041-150554042	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs587641416	chr1:150554049-150554050	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs587704820	chr1:150554069-150554070	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs587605734	chr1:150554106-150554107	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs587644550	chr1:150554119-150554120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs587726490	chr1:150554163-150554164	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372581836	chr1:150554245-150554246	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs587604862	chr1:150554259-150554260	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs587675689	chr1:150554281-150554282	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs190957105	chr1:150554286-150554287	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150547600-150552800	Active TSS	Ovary	ovary
2	chr1:150548200-150552800	Active TSS	Aorta	Aorta
3	chr1:150548600-150553000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:150549000-150553000	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr1:150549200-150553000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:150549600-150552800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:150549800-150552800	Active TSS	Psoas Muscle	Psoas
8	chr1:150550000-150552800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:150550000-150552800	Active TSS	Lung	lung
10	chr1:150550000-150552800	Active TSS	Pancreas	Pancrea
11	chr1:150550000-150553000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:150550200-150552800	Active TSS	Liver	Liver
13	chr1:150550400-150552800	Active TSS	Right Ventricle	heart
14	chr1:150550800-150553000	Active TSS	GM12878-XiMat	blood
15	chr1:150551000-150553000	Active TSS	Colonic Mucosa	Colon
16	chr1:150551000-150553000	Active TSS	HSMM	muscle
17	chr1:150551200-150553000	Active TSS	Thymus	Thymus
18	chr1:150551400-150552800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr1:150551400-150552800	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr1:150551400-150553000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr1:150551400-150553200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:150551400-150553200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:150551600-150552800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:150551600-150552800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:150551600-150552800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:150551600-150552800	Active TSS	Left Ventricle	heart
27	chr1:150551800-150553000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr1:150552000-150552800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:150552000-150553800	Weak transcription	Gastric	stomach
30	chr1:150552200-150552800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:150552200-150552800	Active TSS	Brain Germinal Matrix	brain
32	chr1:150552200-150552800	Flanking Active TSS	Fetal Thymus	thymus
33	chr1:150552200-150552800	Active TSS	Right Atrium	heart
34	chr1:150552400-150552800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:150552400-150552800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:150552400-150552800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:150552400-150552800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr1:150552400-150552800	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr1:150552400-150552800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:150552400-150552800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr1:150552400-150552800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr1:150552400-150552800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:150552400-150552800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr1:150552400-150552800	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr1:150552400-150552800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr1:150552400-150552800	Flanking Active TSS	Placenta	Placenta
47	chr1:150552400-150552800	Flanking Active TSS	A549	lung
48	chr1:150552400-150553000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr1:150552400-150553000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:150552400-150553000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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