Variant report

Variant	nsv872721
Chromosome Location	chr1:189623964-189731048
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:189655218-189655237	K562	blood:	n/a	n/a
2	ATF1	chr1:189692607-189692756	K562	blood:	n/a	n/a
3	ATF1	chr1:189645110-189645131	K562	blood:	n/a	n/a
4	ATF3	chr1:189624065-189624449	HCT-116	colon:	n/a	n/a
5	BACH1	chr1:189660033-189660067	K562	blood:	n/a	n/a
6	BCL3	chr1:189650561-189651101	A549	lung:	n/a	n/a
7	BRCA1	chr1:189640354-189640407	H1-hESC	embryonic stem cell:	n/a	n/a
8	CBX3	chr1:189631264-189631803	HCT-116	colon:	n/a	n/a
9	CBX3	chr1:189631288-189631734	HCT-116	colon:	n/a	n/a
10	CBX3	chr1:189626762-189627309	HCT-116	colon:	n/a	n/a
11	CBX3	chr1:189627431-189627982	HCT-116	colon:	n/a	n/a
12	CEBPB	chr1:189718405-189718652	A549	lung:	n/a	chr1:189718486-189718497
13	CEBPB	chr1:189631180-189631818	HCT-116	colon:	n/a	n/a
14	CEBPB	chr1:189635284-189635346	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:189675215-189675438	HepG2	liver:	n/a	chr1:189675255-189675266
16	CEBPB	chr1:189688196-189688361	H1-hESC	embryonic stem cell:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
17	CEBPB	chr1:189624053-189624347	H1-hESC	embryonic stem cell:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
18	CEBPB	chr1:189626830-189627327	MCF-7	breast:	n/a	chr1:189627200-189627217
19	CEBPB	chr1:189626976-189627210	IMR90	lung:	n/a	n/a
20	CEBPB	chr1:189688107-189688436	HepG2	liver:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
21	CEBPB	chr1:189718442-189718647	HepG2	liver:	n/a	chr1:189718486-189718497
22	CEBPB	chr1:189623938-189624460	HCT-116	colon:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
23	CEBPB	chr1:189624041-189624385	HepG2	liver:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
24	CEBPB	chr1:189646472-189646806	HepG2	liver:	n/a	n/a
25	CEBPB	chr1:189688106-189688428	IMR90	lung:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
26	CEBPB	chr1:189623953-189624457	MCF-7	breast:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
27	CEBPB	chr1:189626911-189627214	MCF-7	breast:	n/a	n/a
28	CEBPB	chr1:189624017-189624416	A549	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
29	CEBPB	chr1:189650548-189650953	A549	lung:	n/a	n/a
30	CEBPB	chr1:189689001-189689131	IMR90	lung:	n/a	n/a
31	CEBPB	chr1:189624089-189624306	MCF-7	breast:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
32	CEBPB	chr1:189626898-189627277	HepG2	liver:	n/a	chr1:189627200-189627217
33	CEBPB	chr1:189624014-189624396	IMR90	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
34	CEBPB	chr1:189688098-189688417	A549	lung:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
35	CEBPB	chr1:189626892-189627296	A549	lung:	n/a	chr1:189627200-189627217
36	CEBPB	chr1:189626761-189627411	A549	lung:	n/a	chr1:189627200-189627217
37	CEBPB	chr1:189624021-189624372	A549	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
38	CEBPB	chr1:189624086-189624348	ECC-1	luminal epithelium:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
39	CEBPB	chr1:189623883-189624474	A549	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
40	CEBPB	chr1:189624011-189624388	Hela-S3	cervix:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
41	CEBPB	chr1:189626896-189627281	A549	lung:	n/a	chr1:189627200-189627217
42	CEBPB	chr1:189623967-189624524	HCT-116	colon:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
43	CEBPB	chr1:189626895-189627312	Hela-S3	cervix:	n/a	chr1:189627200-189627217
44	CEBPB	chr1:189631210-189631769	HCT-116	colon:	n/a	n/a
45	CEBPB	chr1:189651781-189651981	A549	lung:	n/a	n/a
46	CEBPB	chr1:189672613-189673256	IMR90	lung:	n/a	n/a
47	CEBPB	chr1:189627413-189628000	HCT-116	colon:	n/a	n/a
48	CEBPB	chr1:189626703-189627383	HCT-116	colon:	n/a	chr1:189627200-189627217
49	CEBPB	chr1:189688868-189689176	MCF-7	breast:	n/a	n/a
50	CEBPB	chr1:189675218-189675345	A549	lung:	n/a	chr1:189675255-189675266

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:189722103-189722153	BE2_C	brain:	n/a
2	chr1:189722103-189722153	AG04450	lung:	fetal
3	chr1:189722103-189722153	GM19239	blood:	n/a
4	chr1:189722103-189722153	Hepatocyte	liver:	n/a
5	chr1:189722103-189722153	HCPEpiC	choroid plexus:	n/a
6	chr1:189722103-189722153	Hela-S3	cervix:	n/a
7	chr1:189722103-189722153	A549	lung:	n/a
8	chr1:189722103-189722153	K562	blood:	n/a
9	chr1:189722103-189722153	PrEC	prostate:	n/a
10	chr1:189722103-189722153	MCF10A-Er-Src	breast:	n/a
11	chr1:189722103-189722153	NB4	blood:	n/a
12	chr1:189722103-189722153	Jurkat	blood:	n/a
13	chr1:189722103-189722153	HCF	heart:	n/a
14	chr1:189722103-189722153	NT2-D1	testis:	n/a
15	chr1:189722103-189722153	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:189722103-189722153	ovcar-3	ovarian:	n/a
17	chr1:189722103-189722153	Caco-2	colon:	n/a
18	chr1:189722103-189722153	AG10803	skin:	n/a
19	chr1:189722103-189722153	GM06990	blood:	n/a
20	chr1:189722103-189722153	SAEC	small airway:	n/a
21	chr1:189722103-189722153	AoSMC	blood vessel:	n/a
22	chr1:189722103-189722153	HRPEpiC	eye:	n/a
23	chr1:189722103-189722153	RPTEC	kidney:	n/a
24	chr1:189722103-189722153	HCT-116	colon:	n/a
25	chr1:189722103-189722153	HNPCEpiC	eye:	n/a
26	chr1:189722103-189722153	LNCaP	prostate:	n/a
27	chr1:189722103-189722153	SKMC	muscle:	n/a
28	chr1:189722103-189722153	HAEpiC	amniotic membrane:	n/a
29	chr1:189722103-189722153	CMK	blood:	n/a
30	chr1:189722103-189722153	HepG2	liver:	n/a
31	chr1:189722103-189722153	HMEC	breast:	n/a
32	chr1:189722103-189722153	BJ	skin:	n/a
33	chr1:189722103-189722153	NHDF-neo	bronchial:	n/a
34	chr1:189722103-189722153	ProgFib	skin:	n/a
35	chr1:189722103-189722153	SK-N-MC	brain:	n/a
36	chr1:189722103-189722153	SK-N-SH	brain:	n/a
37	chr1:189722103-189722153	SK-N-SH_RA	brain:	n/a
38	chr1:189722103-189722153	HL-60	blood:	n/a
39	chr1:189722103-189722153	NHBE	bronchial:	n/a
40	chr1:189722103-189722153	PANC-1	pancreas:	n/a
41	chr1:189722103-189722153	IMR90	lung:	fetal
42	chr1:189722103-189722153	NH-A	brain:	n/a
43	chr1:189722103-189722153	HEEpiC	esophagus:	n/a
44	chr1:189722103-189722153	PFSK-1	brain:	n/a
45	chr1:189722103-189722153	T-47D	breast:	n/a
46	chr1:189722103-189722153	HIPEpiC	eye:	n/a
47	chr1:189722103-189722153	ECC-1	luminal epithelium:	n/a
48	chr1:189722103-189722153	AG04449	skin:	fetal
49	chr1:189722103-189722153	HCM	heart:	n/a
50	chr1:189722103-189722153	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
2	chr1:189672702..189674835-chr1:189679900..189682761,2	MCF-7	breast:
3	chr1:189627826..189630498-chr1:189636599..189639267,2	MCF-7	breast:
4	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
5	chr1:189627801..189630516-chr1:189640573..189642596,2	MCF-7	breast:
6	chr1:189709848..189710556-chr1:189743646..189744501,3	MCF-7	breast:
7	chr1:189677420..189678491-chr1:190289916..190290952,3	MCF-7	breast:
8	chr1:189624367..189627091-chr1:189650312..189652304,2	MCF-7	breast:
9	chr1:189398408..189399387-chr1:189661985..189662829,2	MCF-7	breast:
10	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
11	chr1:189672702..189674835-chr1:189679900..189682761,2	MCF-7	breast:
12	chr1:189646033..189647879-chr5:175874488..175876371,2	MCF-7	breast:
13	chr1:189398509..189399144-chr1:189660311..189661261,2	MCF-7	breast:
14	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:
15	chr1:189627801..189630516-chr1:189640573..189642596,2	MCF-7	breast:
16	chr1:189625524..189628069-chr1:189701890..189703665,2	MCF-7	breast:
17	chr1:189627826..189630498-chr1:189636599..189639267,2	MCF-7	breast:
18	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:
19	chr1:189624367..189627091-chr1:189650312..189652304,2	MCF-7	breast:
20	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:
21	chr1:189630297..189631878-chr1:189633078..189635794,2	K562	blood:
22	chr1:189677502..189678569-chr1:190053452..190054228,3	MCF-7	breast:
23	chr1:189625524..189628069-chr1:189701890..189703665,2	MCF-7	breast:

Variant related genes	Relation type
RNA5SP73	TF binding region
RNA5SP73	CpG island
ENSG00000113194	chromatin interactions
ENSG00000252553	chromatin interactions

Extended variants
information (count: 1043 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1043 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562498403	chr1:189624049-189624050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185829627	chr1:189624092-189624093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559300867	chr1:189624200-189624201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368623189	chr1:189624211-189624212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78160351	chr1:189624232-189624233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544978874	chr1:189624254-189624255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144234551	chr1:189624283-189624284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114914965	chr1:189624297-189624298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550139281	chr1:189624299-189624300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560519331	chr1:189624301-189624302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73051582	chr1:189624328-189624329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191031396	chr1:189624348-189624349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139427557	chr1:189624380-189624381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539216830	chr1:189624403-189624404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577515	chr1:189624407-189624408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569558801	chr1:189624414-189624415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142572489	chr1:189624418-189624419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74552313	chr1:189624525-189624526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2772317	chr1:189624538-189624539	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113316861	chr1:189624545-189624546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182390934	chr1:189624581-189624582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560950713	chr1:189624592-189624593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573000278	chr1:189624605-189624606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187164291	chr1:189624661-189624662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573004762	chr1:189624663-189624664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558451979	chr1:189624721-189624722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531299790	chr1:189624863-189624864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374029310	chr1:189624925-189624926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576034	chr1:189624944-189624945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544065763	chr1:189624952-189624953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560559574	chr1:189624961-189624962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529643238	chr1:189624975-189624976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190481159	chr1:189624977-189624978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560180320	chr1:189624989-189624990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540026885	chr1:189624997-189624998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73051587	chr1:189625025-189625026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562391320	chr1:189625026-189625027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529643546	chr1:189625042-189625043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149824581	chr1:189625082-189625083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551318390	chr1:189625153-189625154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532061435	chr1:189625172-189625173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548860498	chr1:189625254-189625255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569443396	chr1:189625275-189625276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568468801	chr1:189625281-189625282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548796	chr1:189625298-189625299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554015275	chr1:189625365-189625366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571518	chr1:189625415-189625416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188995843	chr1:189625454-189625455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558344588	chr1:189625512-189625513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566901147	chr1:189625528-189625529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189624000-189624200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:189624000-189624200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:189624000-189624400	Enhancers	HMEC	breast
4	chr1:189624200-189624600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:189624200-189625000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:189624200-189626000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:189624400-189626000	Weak transcription	HMEC	breast
8	chr1:189624600-189626200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:189625000-189626000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:189626000-189626200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:189626000-189626200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:189626000-189626400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:189626000-189629200	Enhancers	HMEC	breast
14	chr1:189626200-189626800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:189626200-189627000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:189626200-189629400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:189626400-189628200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:189626600-189626800	Enhancers	A549	lung
19	chr1:189626800-189627200	Flanking Active TSS	A549	lung
20	chr1:189626800-189628800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:189627000-189628000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:189627000-189628000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:189627000-189628000	Enhancers	NHEK	skin
24	chr1:189627200-189628200	Enhancers	A549	lung
25	chr1:189627600-189628000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:189628200-189628600	Weak transcription	A549	lung
27	chr1:189628200-189628800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:189628600-189629200	Enhancers	A549	lung
29	chr1:189628800-189629000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:189629400-189641400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:189636400-189636600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:189639200-189639400	Enhancers	A549	lung
33	chr1:189640400-189640600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:189640800-189641000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:189645000-189645400	Enhancers	Fetal Heart	heart
36	chr1:189649600-189650400	Enhancers	A549	lung
37	chr1:189650200-189651200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:189650400-189650600	Flanking Active TSS	A549	lung
39	chr1:189650400-189651000	Enhancers	HepG2	liver
40	chr1:189650600-189651000	Active TSS	A549	lung
41	chr1:189651200-189651600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:189651600-189652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:189665400-189666400	Active TSS	Placenta	Placenta
44	chr1:189666400-189666600	Flanking Active TSS	Placenta	Placenta
45	chr1:189675200-189676200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:189678000-189678200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:189678000-189678400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:189688000-189688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:189720600-189720800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:189720800-189721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links