Variant report

Variant	nsv1001909
Chromosome Location	chr1:180132688-180187922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1469)
CpG islands
(count:1159)
Chromatin interactive
region (count:162)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1469 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:180139916-180140078	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:180148047-180148334	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:180150216-180150516	K562	blood:	n/a	n/a
4	ATF1	chr1:180179499-180179662	K562	blood:	n/a	n/a
5	ATF2	chr1:180137751-180138198	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr1:180182517-180182880	GM12878	blood:	n/a	chr1:180182707-180182716 chr1:180182696-180182716
7	ATF3	chr1:180147943-180148199	K562	blood:	n/a	n/a
8	ATF3	chr1:180182608-180182852	K562	blood:	n/a	chr1:180182707-180182716 chr1:180182696-180182716
9	BACH1	chr1:180182546-180182853	K562	blood:	n/a	n/a
10	BACH1	chr1:180137235-180137411	H1-hESC	embryonic stem cell:	n/a	chr1:180137361-180137375
11	BACH1	chr1:180138055-180138076	H1-hESC	embryonic stem cell:	n/a	n/a
12	BHLHE40	chr1:180137959-180138120	K562	blood:	n/a	n/a
13	BHLHE40	chr1:180157355-180158219	K562	blood:	n/a	n/a
14	BHLHE40	chr1:180182510-180183003	K562	blood:	n/a	chr1:180182706-180182715 chr1:180182707-180182716 chr1:180182701-180182722 chr1:180182708-180182717 chr1:180182705-180182718 chr1:180182707-180182716
15	BHLHE40	chr1:180147983-180148260	K562	blood:	n/a	n/a
16	BHLHE40	chr1:180186290-180186357	K562	blood:	n/a	chr1:180186329-180186338 chr1:180186330-180186339 chr1:180186329-180186338
17	BHLHE40	chr1:180147875-180148291	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:180163938-180164285	K562	blood:	n/a	n/a
19	BHLHE40	chr1:180157245-180157730	HepG2	liver:	n/a	n/a
20	BHLHE40	chr1:180150356-180150566	K562	blood:	n/a	n/a
21	BHLHE40	chr1:180137285-180137490	HepG2	liver:	n/a	chr1:180137460-180137476
22	BHLHE40	chr1:180148786-180148874	K562	blood:	n/a	n/a
23	BRCA1	chr1:180137028-180137061	HepG2	liver:	n/a	n/a
24	BRCA1	chr1:180137854-180138043	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr1:180137160-180137498	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr1:180157382-180157663	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr1:180138052-180138053	HepG2	liver:	n/a	n/a
28	CBX3	chr1:180182520-180183175	K562	blood:	n/a	n/a
29	CBX3	chr1:180163932-180164282	K562	blood:	n/a	n/a
30	CBX3	chr1:180182521-180182901	K562	blood:	n/a	n/a
31	CCNT2	chr1:180152002-180152161	K562	blood:	n/a	n/a
32	CCNT2	chr1:180165896-180166063	K562	blood:	n/a	n/a
33	CEBPB	chr1:180162028-180162181	K562	blood:	n/a	n/a
34	CEBPB	chr1:180137047-180137547	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr1:180148008-180148283	K562	blood:	n/a	n/a
36	CEBPB	chr1:180157372-180157602	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr1:180184049-180184224	A549	lung:	n/a	n/a
38	CEBPB	chr1:180140614-180140896	K562	blood:	n/a	chr1:180140693-180140701
39	CEBPB	chr1:180183375-180183648	HepG2	liver:	n/a	chr1:180183524-180183535
40	CEBPB	chr1:180183506-180183601	A549	lung:	n/a	chr1:180183524-180183535
41	CEBPB	chr1:180140640-180140920	HepG2	liver:	n/a	chr1:180140693-180140701
42	CEBPB	chr1:180140689-180140922	IMR90	lung:	n/a	chr1:180140693-180140701
43	CEBPB	chr1:180140703-180140816	A549	lung:	n/a	n/a
44	CHD1	chr1:180147864-180148497	IMR90	lung:	n/a	n/a
45	CHD2	chr1:180157402-180157711	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr1:180148033-180148317	K562	blood:	n/a	n/a
47	CHD2	chr1:180137980-180138132	HepG2	liver:	n/a	n/a
48	CHD2	chr1:180137957-180138110	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr1:180157347-180157621	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr1:180136988-180137563	Hela-S3	cervix:	n/a	n/a

(count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180167084-180167134	SAEC	small airway:	n/a
2	chr1:180138771-180138821	K562	blood:	n/a
3	chr1:180161452-180161502	HCF	heart:	n/a
4	chr1:180137918-180137968	ProgFib	skin:	n/a
5	chr1:180170249-180170299	GM12878	blood:	n/a
6	chr1:180165648-180165698	HRE	kidney:	n/a
7	chr1:180136887-180136937	AoSMC	blood vessel:	n/a
8	chr1:180157401-180157451	NB4	blood:	n/a
9	chr1:180167117-180167167	PFSK-1	brain:	n/a
10	chr1:180161452-180161502	GM12878	blood:	n/a
11	chr1:180165648-180165698	AG04450	lung:	fetal
12	chr1:180134498-180134548	PANC-1	pancreas:	n/a
13	chr1:180166190-180166240	IMR90	lung:	fetal
14	chr1:180148192-180148242	AG09309	skin:	n/a
15	chr1:180168167-180168217	SK-N-MC	brain:	n/a
16	chr1:180148192-180148242	HEK293	kidney:	embryo
17	chr1:180166674-180166724	K562	blood:	n/a
18	chr1:180138771-180138821	Jurkat	blood:	n/a
19	chr1:180166674-180166724	HEEpiC	esophagus:	n/a
20	chr1:180168109-180168159	HEEpiC	esophagus:	n/a
21	chr1:180157401-180157451	HCF	heart:	n/a
22	chr1:180167117-180167167	NHBE	bronchial:	n/a
23	chr1:180166674-180166724	PrEC	prostate:	n/a
24	chr1:180167117-180167167	Hela-S3	cervix:	n/a
25	chr1:180137918-180137968	HCPEpiC	choroid plexus:	n/a
26	chr1:180157401-180157451	HCT-116	colon:	n/a
27	chr1:180170249-180170299	PANC-1	pancreas:	n/a
28	chr1:180150424-180150474	GM19239	blood:	n/a
29	chr1:180166190-180166240	Hela-S3	cervix:	n/a
30	chr1:180166674-180166724	HCM	heart:	n/a
31	chr1:180134498-180134548	T-47D	breast:	n/a
32	chr1:180168109-180168159	AG04450	lung:	fetal
33	chr1:180167117-180167167	AG10803	skin:	n/a
34	chr1:180161452-180161502	A549	lung:	n/a
35	chr1:180168167-180168217	H1-hESC	embryonic stem cell:	embryo
36	chr1:180144025-180144075	Jurkat	blood:	n/a
37	chr1:180168167-180168217	AoSMC	blood vessel:	n/a
38	chr1:180166190-180166240	NB4	blood:	n/a
39	chr1:180167117-180167167	H1-hESC	embryonic stem cell:	embryo
40	chr1:180165648-180165698	HEEpiC	esophagus:	n/a
41	chr1:180166674-180166724	AG09309	skin:	n/a
42	chr1:180153485-180153535	SK-N-MC	brain:	n/a
43	chr1:180136887-180136937	NH-A	brain:	n/a
44	chr1:180161452-180161502	PrEC	prostate:	n/a
45	chr1:180167117-180167167	GM12892	blood:	n/a
46	chr1:180134498-180134548	H1-hESC	embryonic stem cell:	embryo
47	chr1:180138771-180138821	NT2-D1	testis:	n/a
48	chr1:180168167-180168217	K562	blood:	n/a
49	chr1:180167117-180167167	PANC-1	pancreas:	n/a
50	chr1:180138771-180138821	MCF-7	breast:	n/a

(count:162 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:180091209..180093706-chr1:180135301..180137840,3	MCF-7	breast:
2	chr1:179923320..179927846-chr1:180136574..180138926,4	MCF-7	breast:
3	chr1:180124065..180124574-chr1:180137270..180137775,2	MCF-7	breast:
4	chr1:180157764..180160729-chr1:180196773..180199044,2	MCF-7	breast:
5	chr1:180160033..180161907-chr1:180449286..180451690,2	MCF-7	breast:
6	chr1:180133297..180136167-chr1:180140744..180142405,2	K562	blood:
7	chr1:180123454..180124007-chr1:180136876..180137442,2	MCF-7	breast:
8	chr1:179836451..179837487-chr1:180147977..180148608,3	MCF-7	breast:
9	chr1:180138871..180140397-chr6:26155275..26158092,2	MCF-7	breast:
10	chr1:180076879..180077669-chr1:180137517..180138220,2	MCF-7	breast:
11	chr1:179836645..179837614-chr1:180147760..180148458,2	MCF-7	breast:
12	chr1:180049264..180050084-chr1:180136979..180137682,3	MCF-7	breast:
13	chr1:180148498..180150410-chr1:180153485..180156039,2	MCF-7	breast:
14	chr1:180157064..180157810-chr1:180212292..180213377,3	MCF-7	breast:
15	chr1:180147709..180148394-chr1:180157374..180157997,3	K562	blood:
16	chr1:180133297..180136167-chr1:180140744..180142405,2	K562	blood:
17	chr1:180155164..180157473-chr1:180197827..180200176,2	MCF-7	breast:
18	chr1:180123119..180125237-chr1:180150357..180153270,2	K562	blood:
19	chr1:180170458..180172735-chr1:180177820..180180724,2	MCF-7	breast:
20	chr1:180137006..180140195-chr1:180141575..180145480,5	K562	blood:
21	chr1:180118443..180120257-chr1:180131063..180133971,3	MCF-7	breast:
22	chr1:180135428..180138250-chr1:180150894..180153157,2	MCF-7	breast:
23	chr1:180157909..180159726-chr1:180159740..180161747,2	K562	blood:
24	chr1:180162538..180164961-chr1:180165083..180167591,3	K562	blood:
25	chr1:180168163..180169800-chr1:180187556..180189433,2	MCF-7	breast:
26	chr1:180152753..180155932-chr1:180156941..180161376,5	K562	blood:
27	chr1:180138695..180141980-chr1:180143980..180145885,3	K562	blood:
28	chr1:180167194..180169146-chr1:180469710..180471466,2	MCF-7	breast:
29	chr1:180136278..180138726-chr1:180139135..180141968,2	K562	blood:
30	chr1:179783615..179784508-chr1:180137753..180138564,2	K562	blood:
31	chr1:180171758..180175004-chr1:180197871..180201254,4	MCF-7	breast:
32	chr1:180132376..180134766-chr1:180135945..180137966,2	K562	blood:
33	chr1:179899957..179900671-chr1:180137065..180137612,2	MCF-7	breast:
34	chr1:180169625..180171387-chr1:180199131..180202801,3	MCF-7	breast:
35	chr1:180136376..180137616-chr1:180197323..180198301,4	MCF-7	breast:
36	chr1:180156865..180157706-chr1:180384959..180385623,2	K562	blood:
37	chr1:180165121..180168883-chr1:180170132..180173645,4	MCF-7	breast:
38	chr1:180140473..180142026-chr1:180171007..180172965,2	K562	blood:
39	chr1:180143081..180144984-chr1:180146665..180148775,2	K562	blood:
40	chr1:180180210..180181890-chr1:180191700..180194115,2	MCF-7	breast:
41	chr1:180132376..180134766-chr1:180135945..180137966,2	K562	blood:
42	chr1:180143261..180143849-chr1:180197310..180198264,2	MCF-7	breast:
43	chr1:180169524..180172441-chr1:180177261..180179017,2	K562	blood:
44	chr1:180167145..180169996-chr1:180470230..180472762,2	MCF-7	breast:
45	chr1:180150202..180151825-chr1:180157652..180159202,2	MCF-7	breast:
46	chr1:180136942..180138768-chr1:180470029..180472355,3	MCF-7	breast:
47	chr1:180147709..180148394-chr1:180157374..180157997,3	K562	blood:
48	chr1:180139648..180141218-chr1:180469440..180471988,2	MCF-7	breast:
49	chr1:180138695..180141980-chr1:180143980..180145885,3	K562	blood:
50	chr1:180123298..180125650-chr1:180161810..180164469,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LHX4-1	chr1:180167144-180169859	NONHSAT008249
2	lnc-ACBD6-2	chr1:180166485-180167167	ENSG00000247866
3	lnc-ACBD6-2	chr1:180150090-180151749	ENSG00000247866

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	QSOX1	hsa-miR-124-3p	chr1:180167079-180167099
2	QSOX1	hsa-miR-124-3p	chr1:180166871-180166877

Variant related genes	Relation type
QSOX1	TF binding region
QSOX1	CpG island
ENSG00000168298	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000229407	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000261817	chromatin interactions
ENSG00000135847	chromatin interactions
ENSG00000135837	chromatin interactions
ENSG00000116260	chromatin interactions
ENSG00000260360	chromatin interactions
ENSG00000121454	chromatin interactions
ENSG00000169905	chromatin interactions
PHLPP2	miRNA target sites

Extended variants
information (count: 2439 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2439 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6689602	chr1:180132688-180132689	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12033579	chr1:180132703-180132704	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77962924	chr1:180132802-180132803	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529300443	chr1:180132805-180132806	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549069257	chr1:180132828-180132829	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs12059557	chr1:180132851-180132852	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374811363	chr1:180132897-180132898	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs12064324	chr1:180132910-180132911	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572258346	chr1:180132917-180132918	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182129749	chr1:180132943-180132944	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs17371594	chr1:180132960-180132961	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs3911337	chr1:180132986-180132987	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547089615	chr1:180133031-180133032	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs566974432	chr1:180133037-180133038	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536353684	chr1:180133040-180133041	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs528632892	chr1:180133053-180133054	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555849415	chr1:180133063-180133064	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs554801750	chr1:180133136-180133137	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143991522	chr1:180133165-180133166	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs186021568	chr1:180133175-180133176	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs578210005	chr1:180133213-180133214	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs35202768	chr1:180133224-180133225	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs34459810	chr1:180133238-180133239	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs540873747	chr1:180133255-180133256	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560678432	chr1:180133272-180133273	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576268762	chr1:180133329-180133330	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568813571	chr1:180133337-180133338	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543766140	chr1:180133355-180133356	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs562717853	chr1:180133372-180133373	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564962367	chr1:180133433-180133434	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531768962	chr1:180133436-180133437	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs12403079	chr1:180133439-180133440	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564884645	chr1:180133442-180133443	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191320240	chr1:180133510-180133511	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs183124173	chr1:180133567-180133568	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs117528647	chr1:180133573-180133574	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs75338960	chr1:180133588-180133589	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78001202	chr1:180133603-180133604	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569534201	chr1:180133618-180133619	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs188610598	chr1:180133658-180133659	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs558486073	chr1:180133660-180133661	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs78461874	chr1:180133668-180133669	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs534514204	chr1:180133688-180133689	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs114511271	chr1:180133722-180133723	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs113719638	chr1:180133736-180133737	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs141106518	chr1:180133752-180133753	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs530315234	chr1:180133761-180133762	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs371355606	chr1:180133771-180133772	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs548502947	chr1:180133772-180133773	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs3820309	chr1:180133784-180133785	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:1446 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180124800-180151000	Weak transcription	Aorta	Aorta
2	chr1:180125000-180133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:180125000-180136000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:180125200-180134600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:180125200-180137400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:180125200-180150400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:180125400-180134800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:180125600-180133200	Weak transcription	Thymus	Thymus
9	chr1:180125600-180136400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:180125600-180159200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:180125800-180135800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:180126000-180135600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:180126000-180136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:180126000-180151000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:180126000-180151400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:180126200-180133600	Weak transcription	Brain Germinal Matrix	brain
17	chr1:180126200-180136600	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:180126200-180152400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:180126400-180153800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:180126600-180134400	Weak transcription	Brain Angular Gyrus	brain
21	chr1:180126600-180135600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:180126600-180135600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:180126800-180134800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:180126800-180135000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:180126800-180135800	Weak transcription	Hela-S3	cervix
26	chr1:180127200-180133400	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:180127200-180134000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:180127200-180134600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:180127200-180136000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:180127200-180137400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:180127200-180140400	Weak transcription	GM12878-XiMat	blood
32	chr1:180127400-180142800	Weak transcription	HSMM	muscle
33	chr1:180127600-180134400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:180127600-180134400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:180127600-180134600	Weak transcription	Brain Anterior Caudate	brain
36	chr1:180127600-180137400	Weak transcription	K562	blood
37	chr1:180127600-180142600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:180127800-180133200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:180127800-180133200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:180127800-180133400	Weak transcription	Psoas Muscle	Psoas
41	chr1:180127800-180134400	Weak transcription	Fetal Brain Female	brain
42	chr1:180127800-180135400	Weak transcription	NHDF-Ad	bronchial
43	chr1:180127800-180136200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:180127800-180136600	Weak transcription	HUVEC	blood vessel
45	chr1:180127800-180136800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:180127800-180137200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:180128000-180133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:180128000-180133000	Weak transcription	Right Ventricle	heart
49	chr1:180128200-180133200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:180128200-180133200	Weak transcription	Esophagus	oesophagus

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