Variant report

Variant	nsv1003756
Chromosome Location	chr1:152944201-153044621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:653)
CpG islands
(count:2015)
Chromatin interactive
region (count:35)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:153030693-153030952	K562	blood:	n/a	n/a
2	ARID3A	chr1:153031308-153032283	K562	blood:	n/a	n/a
3	ATF1	chr1:152995674-152995827	K562	blood:	n/a	n/a
4	ATF1	chr1:152998366-152998452	K562	blood:	n/a	n/a
5	ATF1	chr1:153031406-153032192	K562	blood:	n/a	n/a
6	ATF1	chr1:153013641-153013966	K562	blood:	n/a	n/a
7	ATF1	chr1:152973746-152974221	K562	blood:	n/a	n/a
8	ATF2	chr1:153004515-153004838	GM12878	blood:	n/a	n/a
9	ATF3	chr1:153031669-153032213	K562	blood:	n/a	n/a
10	ATF3	chr1:152995645-152995837	K562	blood:	n/a	n/a
11	ATF3	chr1:153031812-153032059	K562	blood:	n/a	n/a
12	BACH1	chr1:153005513-153005752	H1-hESC	embryonic stem cell:	n/a	chr1:153005617-153005631
13	BHLHE40	chr1:153031557-153032209	K562	blood:	n/a	n/a
14	BHLHE40	chr1:152995583-152995771	K562	blood:	n/a	n/a
15	BHLHE40	chr1:153015386-153015558	K562	blood:	n/a	n/a
16	BHLHE40	chr1:152954341-152954424	A549	lung:	n/a	n/a
17	BHLHE40	chr1:152958619-152958625	K562	blood:	n/a	n/a
18	BRCA1	chr1:153005542-153005803	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr1:153031761-153032266	K562	blood:	n/a	n/a
20	CCNT2	chr1:153031399-153032490	K562	blood:	n/a	chr1:153031986-153032006
21	CEBPB	chr1:153013681-153013964	K562	blood:	n/a	n/a
22	CEBPB	chr1:153005435-153005716	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:152968999-152969381	H1-hESC	embryonic stem cell:	n/a	chr1:152969017-152969028
24	CEBPB	chr1:153012095-153012104	HepG2	liver:	n/a	n/a
25	CEBPB	chr1:153005457-153005724	K562	blood:	n/a	n/a
26	CEBPB	chr1:153003377-153003680	MCF-7	breast:	n/a	n/a
27	CEBPB	chr1:153005368-153005745	IMR90	lung:	n/a	n/a
28	CEBPB	chr1:152997666-152997772	K562	blood:	n/a	n/a
29	CEBPB	chr1:152968953-152969158	HepG2	liver:	n/a	chr1:152969017-152969028
30	CEBPB	chr1:153037628-153037762	K562	blood:	n/a	n/a
31	CEBPB	chr1:152995529-152995729	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:153005299-153005847	MCF-7	breast:	n/a	chr1:153005809-153005822
33	CEBPB	chr1:152995501-152995879	K562	blood:	n/a	n/a
34	CEBPB	chr1:153005383-153005700	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr1:153005414-153005724	A549	lung:	n/a	n/a
36	CEBPB	chr1:153031752-153032198	K562	blood:	n/a	n/a
37	CEBPB	chr1:152992746-152992821	A549	lung:	n/a	n/a
38	CEBPB	chr1:153005374-153005751	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:153031640-153032161	K562	blood:	n/a	n/a
40	CEBPD	chr1:153031258-153032304	K562	blood:	n/a	n/a
41	CEBPD	chr1:153031328-153032328	K562	blood:	n/a	n/a
42	CHD2	chr1:153031845-153032048	K562	blood:	n/a	n/a
43	CHD2	chr1:153005502-153005688	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr1:152965656-152965660	K562	blood:	n/a	n/a
45	CTCF	chr1:153005396-153005734	GM12878	blood:	n/a	chr1:153005553-153005571 chr1:153005548-153005569 chr1:153005554-153005570
46	CTCF	chr1:152946917-152947215	K562	blood:	n/a	n/a
47	CTCF	chr1:153005480-153005630	GM12864	blood:	n/a	chr1:153005553-153005571 chr1:153005548-153005569 chr1:153005554-153005570
48	CTCF	chr1:153030700-153030850	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr1:153042820-153042970	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr1:153005460-153005610	HRPEpiC	eye:	n/a	chr1:153005553-153005571 chr1:153005548-153005569 chr1:153005554-153005570

(count:2015 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153030567-153030617	NT2-D1	testis:	n/a
2	chr1:152976275-152976325	CMK	blood:	n/a
3	chr1:153030567-153030617	NT2-D1	testis:	n/a
4	chr1:152976275-152976325	CMK	blood:	n/a
5	chr1:153043360-153043410	Hela-S3	cervix:	n/a
6	chr1:152958102-152958152	A549	lung:	n/a
7	chr1:153013830-153013880	ProgFib	skin:	n/a
8	chr1:153003198-153003248	Caco-2	colon:	n/a
9	chr1:153030594-153030644	HAEpiC	amniotic membrane:	n/a
10	chr1:152957018-152957068	H1-hESC	embryonic stem cell:	embryo
11	chr1:152973720-152973770	A549	lung:	n/a
12	chr1:152957379-152957429	Hela-S3	cervix:	n/a
13	chr1:153014310-153014360	HUVEC	blood vessel:	n/a
14	chr1:152974771-152974821	HEEpiC	esophagus:	n/a
15	chr1:153030567-153030617	HAEpiC	amniotic membrane:	n/a
16	chr1:153030567-153030617	K562	blood:	n/a
17	chr1:153044071-153044121	K562	blood:	n/a
18	chr1:153015281-153015331	NB4	blood:	n/a
19	chr1:153030751-153030801	H1-hESC	embryonic stem cell:	embryo
20	chr1:152973957-152974007	NHDF-neo	bronchial:	n/a
21	chr1:153030514-153030564	K562	blood:	n/a
22	chr1:152973849-152973899	IMR90	lung:	fetal
23	chr1:152976275-152976325	GM06990	blood:	n/a
24	chr1:152973720-152973770	PrEC	prostate:	n/a
25	chr1:153005121-153005171	HUVEC	blood vessel:	n/a
26	chr1:153015281-153015331	K562	blood:	n/a
27	chr1:153044457-153044507	HNPCEpiC	eye:	n/a
28	chr1:153005121-153005171	A549	lung:	n/a
29	chr1:153013573-153013623	GM12891	blood:	n/a
30	chr1:153014310-153014360	NHBE	bronchial:	n/a
31	chr1:152976275-152976325	NHDF-neo	bronchial:	n/a
32	chr1:153030594-153030644	HL-60	blood:	n/a
33	chr1:153013573-153013623	HRPEpiC	eye:	n/a
34	chr1:152973957-152974007	BE2_C	brain:	n/a
35	chr1:153044071-153044121	U87	brain:	n/a
36	chr1:153015281-153015331	PANC-1	pancreas:	n/a
37	chr1:152944810-152944860	ProgFib	skin:	n/a
38	chr1:152955543-152955593	Hela-S3	cervix:	n/a
39	chr1:152944810-152944860	Hepatocyte	liver:	n/a
40	chr1:152973720-152973770	HUVEC	blood vessel:	n/a
41	chr1:153030514-153030564	HRE	kidney:	n/a
42	chr1:153030751-153030801	NT2-D1	testis:	n/a
43	chr1:153015281-153015331	BJ	skin:	n/a
44	chr1:152974279-152974329	HRCEpiC	kidney:	n/a
45	chr1:152955080-152955130	PANC-1	pancreas:	n/a
46	chr1:153013830-153013880	HepG2	liver:	n/a
47	chr1:152944810-152944860	Caco-2	colon:	n/a
48	chr1:153029939-153029989	Hepatocyte	liver:	n/a
49	chr1:152958102-152958152	GM19239	blood:	n/a
50	chr1:152957018-152957068	T-47D	breast:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:152939595..152942578-chr1:153006436..153008080,2	MCF-7	breast:
2	chr1:152946838..152947509-chr1:153030402..153031164,2	MCF-7	breast:
3	chr1:152999178..153000779-chr1:153005146..153007947,2	MCF-7	breast:
4	chr1:152997652..153000617-chr1:153004018..153006664,2	MCF-7	breast:
5	chr1:153005244..153005821-chr1:153164960..153165646,3	MCF-7	breast:
6	chr1:152950038..152951690-chr1:152969317..152971115,2	MCF-7	breast:
7	chr1:152950038..152951690-chr1:152969317..152971115,2	MCF-7	breast:
8	chr1:152926650..152927561-chr1:153005080..153005744,2	MCF-7	breast:
9	chr1:152948835..152951226-chr1:153005121..153006755,2	MCF-7	breast:
10	chr1:152997979..153000273-chr1:153001489..153003586,2	MCF-7	breast:
11	chr1:153040069..153041954-chr1:153044290..153046075,2	K562	blood:
12	chr1:152975139..152976833-chr1:152995006..152997182,2	MCF-7	breast:
13	chr1:152850201..152851155-chr1:153005077..153005710,4	MCF-7	breast:
14	chr1:153040069..153041954-chr1:153044290..153046075,2	K562	blood:
15	chr1:153034986..153036506-chr6:26033157..26034818,2	K562	blood:
16	chr1:152997979..153000273-chr1:153001489..153003586,2	MCF-7	breast:
17	chr1:153030355..153031203-chr1:153153146..153153758,2	MCF-7	breast:
18	chr1:152898333..152898906-chr1:153005465..153006016,2	MCF-7	breast:
19	chr1:152994189..152995885-chr1:153004714..153007104,2	MCF-7	breast:
20	chr1:152843289..152844260-chr1:153005064..153006050,2	MCF-7	breast:
21	chr1:152932933..152933748-chr1:153005112..153006074,3	MCF-7	breast:
22	chr1:152975139..152976833-chr1:152995006..152997182,2	MCF-7	breast:
23	chr1:152999178..153000779-chr1:153005146..153007947,2	MCF-7	breast:
24	chr1:153023664..153025787-chr1:153028264..153031002,2	K562	blood:
25	chr1:152946838..152947509-chr1:153030402..153031164,2	MCF-7	breast:
26	chr1:152962665..152965566-chr1:152972218..152974947,2	K562	blood:
27	chr1:152890031..152890981-chr1:153030436..153031260,2	MCF-7	breast:
28	chr1:153031331..153032975-chr1:153077540..153080303,2	K562	blood:
29	chr1:152890404..152890921-chr1:153005056..153005990,2	MCF-7	breast:
30	chr1:153005373..153007183-chr1:153162991..153164575,2	MCF-7	breast:
31	chr1:153020357..153022432-chr1:153024274..153025794,2	K562	blood:
32	chr1:152843263..152844168-chr1:153005237..153006058,6	MCF-7	breast:
33	chr1:152948835..152951226-chr1:153005121..153006755,2	MCF-7	breast:
34	chr1:152988194..152990782-chr20:4228361..4231088,2	MCF-7	breast:
35	chr1:153020357..153022432-chr1:153024274..153025794,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRR1A-2	chr1:152974422-152974876	NONHSAT006502
2	lnc-SPRR1A-1	chr1:152957973-152958289	NONHSAT006501
3	lnc-SPRR1A-2	chr1:152974225-152974269	NONHSAT006502
4	lnc-SPRR1B-1	chr1:152996438-152996736	NONHSAT006503

No data

Variant related genes	Relation type
ENSG00000234262	TF binding region
SPRR1B	TF binding region
SPRR2D	TF binding region
SPRR2B	TF binding region
SPRR2A	TF binding region
ENSG00000252920	TF binding region
SPRR3	TF binding region
SPRR1A	TF binding region
ENSG00000234262	CpG island
SPRR1B	CpG island
SPRR2D	CpG island
SPRR2B	CpG island
SPRR2A	CpG island
ENSG00000252920	CpG island
SPRR3	CpG island
SPRR1A	CpG island
ENSG00000241794	chromatin interactions
ENSG00000203785	chromatin interactions
ENSG00000163206	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000234262	chromatin interactions
ENSG00000171873	chromatin interactions
ENSG00000169469	chromatin interactions
ENSG00000163209	chromatin interactions

Extended variants
information (count: 4476 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:4476 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529196680	chr1:152944234-152944235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201340916	chr1:152944286-152944287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547430930	chr1:152944291-152944292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150898471	chr1:152944326-152944327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368231192	chr1:152944334-152944335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201467894	chr1:152944335-152944336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12071966	chr1:152944351-152944352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138197626	chr1:152944369-152944370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201207143	chr1:152944388-152944389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73010454	chr1:152944389-152944390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371393508	chr1:152944398-152944399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141498480	chr1:152944410-152944411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375861748	chr1:152944443-152944444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537281969	chr1:152944457-152944458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565875898	chr1:152944468-152944469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12072018	chr1:152944470-152944471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16834786	chr1:152944499-152944500	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570657541	chr1:152944501-152944502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369173908	chr1:152944503-152944504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373846840	chr1:152944508-152944509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201321708	chr1:152944533-152944534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147360157	chr1:152944534-152944535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144926423	chr1:152944539-152944540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200796048	chr1:152944547-152944548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201775282	chr1:152944550-152944551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3170863	chr1:152944594-152944595	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs200805970	chr1:152944616-152944617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373412333	chr1:152944632-152944633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376936177	chr1:152944633-152944634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555386680	chr1:152944656-152944657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73010458	chr1:152944682-152944683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544468783	chr1:152944685-152944686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189841557	chr1:152944719-152944720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533021291	chr1:152944749-152944750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539955881	chr1:152944762-152944763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181364609	chr1:152944763-152944764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569397254	chr1:152944773-152944774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73010459	chr1:152944778-152944779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184399540	chr1:152944781-152944782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147690642	chr1:152944791-152944792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377105505	chr1:152944845-152944846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531006491	chr1:152944863-152944864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149612109	chr1:152944900-152944901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372615972	chr1:152944919-152944920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16834788	chr1:152944937-152944938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536677206	chr1:152945011-152945012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114427050	chr1:152945013-152945014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371423609	chr1:152945073-152945074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188139240	chr1:152945082-152945083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566820762	chr1:152945107-152945108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152941800-152944400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:152941800-152944400	Weak transcription	HMEC	breast
3	chr1:152942000-152944400	Weak transcription	NHEK	skin
4	chr1:152942000-152944600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:152942200-152944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:152944000-152945000	Enhancers	Esophagus	oesophagus
7	chr1:152944400-152945800	Enhancers	NHEK	skin
8	chr1:152944400-152946000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:152944400-152946000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:152944400-152946200	Enhancers	HMEC	breast
11	chr1:152944600-152946000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:152945000-152953600	Weak transcription	Esophagus	oesophagus
13	chr1:152950200-152950400	ZNF genes & repeats	Aorta	Aorta
14	chr1:152951400-152953800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:152951600-152951800	Enhancers	Fetal Intestine Large	intestine
16	chr1:152951800-152952800	Weak transcription	Fetal Intestine Large	intestine
17	chr1:152951800-152954400	Enhancers	Fetal Intestine Small	intestine
18	chr1:152952800-152954400	Enhancers	Fetal Intestine Large	intestine
19	chr1:152953400-152954000	Enhancers	HMEC	breast
20	chr1:152953400-152954000	Enhancers	NHEK	skin
21	chr1:152953600-152954200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:152953600-152954200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:152953600-152954600	Enhancers	Esophagus	oesophagus
24	chr1:152953800-152954400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:152953800-152954400	Enhancers	Pancreas	Pancrea
26	chr1:152953800-152955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:152954000-152955600	Weak transcription	NHEK	skin
28	chr1:152954000-152955800	Weak transcription	HMEC	breast
29	chr1:152954200-152955000	Enhancers	Ovary	ovary
30	chr1:152954200-152955600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:152954200-152956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:152954200-152966200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:152954400-152955600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:152954400-152969200	Weak transcription	Pancreas	Pancrea
35	chr1:152954600-152955600	Weak transcription	Esophagus	oesophagus
36	chr1:152955000-152955800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:152955000-152956400	Weak transcription	Ovary	ovary
38	chr1:152955600-152956000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:152955600-152956400	Enhancers	Esophagus	oesophagus
40	chr1:152955600-152956400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:152955600-152956600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:152955600-152956800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:152955600-152956800	Enhancers	NHEK	skin
44	chr1:152955800-152956800	Enhancers	HMEC	breast
45	chr1:152956000-152956400	Enhancers	Stomach Mucosa	stomach
46	chr1:152956000-152956800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:152956400-152956600	Enhancers	Ovary	ovary
48	chr1:152956400-152957200	Weak transcription	Esophagus	oesophagus
49	chr1:152956800-152965600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:152956800-152972200	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links