Variant report

Variant	nsv947449
Chromosome Location	chr1:172419586-172424910
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	chr1:172420022-172420602	K562	blood:	n/a	n/a
2	ARID3A	chr1:172418036-172419866	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:172421807-172422111	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:172420112-172420640	HepG2	liver:	n/a	n/a
5	BHLHE40	chr1:172421828-172422331	K562	blood:	n/a	n/a
6	BHLHE40	chr1:172418912-172420320	K562	blood:	n/a	n/a
7	BHLHE40	chr1:172419727-172419998	HepG2	liver:	n/a	n/a
8	BHLHE40	chr1:172418211-172420075	HepG2	liver:	n/a	n/a
9	CBX3	chr1:172418843-172419702	K562	blood:	n/a	n/a
10	CBX3	chr1:172419982-172420608	K562	blood:	n/a	n/a
11	CEBPB	chr1:172421908-172422127	HepG2	liver:	n/a	n/a
12	CEBPB	chr1:172422643-172423086	IMR90	lung:	n/a	chr1:172422906-172422917
13	CEBPB	chr1:172422738-172423109	K562	blood:	n/a	chr1:172422906-172422917
14	CEBPB	chr1:172422821-172422944	H1-hESC	embryonic stem cell:	n/a	chr1:172422906-172422917
15	CEBPB	chr1:172421901-172422036	K562	blood:	n/a	n/a
16	CEBPB	chr1:172422728-172423095	HepG2	liver:	n/a	chr1:172422906-172422917
17	CEBPB	chr1:172422766-172423057	Hela-S3	cervix:	n/a	chr1:172422906-172422917
18	CEBPB	chr1:172422718-172423100	A549	lung:	n/a	chr1:172422906-172422917
19	CHD2	chr1:172419807-172420027	HepG2	liver:	n/a	n/a
20	CHD2	chr1:172418807-172419616	K562	blood:	n/a	n/a
21	CHD2	chr1:172420164-172420579	Hela-S3	cervix:	n/a	n/a
22	CREB1	chr1:172418049-172420111	HepG2	liver:	n/a	n/a
23	CTCF	chr1:172419800-172419950	K562	blood:	n/a	n/a
24	CTCF	chr1:172418951-172419599	HCT-116	colon:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
25	CTCF	chr1:172419680-172419830	GM06990	blood:	n/a	chr1:172419777-172419790
26	CTCF	chr1:172419740-172419890	GM12864	blood:	n/a	chr1:172419777-172419790
27	CTCF	chr1:172420493-172420693	K562	blood:	n/a	n/a
28	CTCF	chr1:172417456-172420817	A549	lung:	n/a	chr1:172419229-172419247 chr1:172420251-172420259 chr1:172419777-172419790 chr1:172419234-172419242 chr1:172419231-172419252
29	CTCF	chr1:172419600-172419750	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr1:172418755-172419684	HCT-116	colon:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
31	CTCF	chr1:172419700-172419850	GM12868	blood:	n/a	chr1:172419777-172419790
32	CTCF	chr1:172419540-172419690	GM12872	blood:	n/a	n/a
33	CTCF	chr1:172419560-172419710	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr1:172420040-172420190	GM12872	blood:	n/a	n/a
35	CTCF	chr1:172419440-172419590	AG04449	skin:	n/a	n/a
36	CTCF	chr1:172420420-172420570	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr1:172418684-172419707	SK-N-SH	brain:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
38	CTCF	chr1:172420180-172420330	HMEC	breast:	n/a	chr1:172420251-172420259
39	CTCF	chr1:172419680-172419830	SAEC	small airway:	n/a	chr1:172419777-172419790
40	CTCF	chr1:172419560-172419710	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr1:172418998-172419587	K562	blood:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
42	CTCF	chr1:172419640-172419790	GM12865	blood:	n/a	chr1:172419777-172419790
43	CUX1	chr1:172422270-172422412	K562	blood:	n/a	n/a
44	CUX1	chr1:172420142-172420535	K562	blood:	n/a	n/a
45	CUX1	chr1:172421553-172421746	K562	blood:	n/a	n/a
46	CUX1	chr1:172423285-172423371	K562	blood:	n/a	n/a
47	E2F4	chr1:172422569-172422845	MCF10A-Er-Src	breast:	n/a	n/a
48	ELK1	chr1:172422403-172422404	K562	blood:	n/a	n/a
49	ELK1	chr1:172418966-172419631	K562	blood:	n/a	n/a
50	EP300	chr1:172420150-172420710	HepG2	liver:	n/a	chr1:172420565-172420575

No.	Distal block	Cell Line	Cell type
1	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
2	chr1:172420977..172423750-chr1:172424535..172427045,4	MCF-7	breast:
3	chr1:172424143..172425875-chr1:172509096..172511619,2	K562	blood:
4	chr1:172418589..172419710-chr1:172688502..172689393,4	MCF-7	breast:
5	chr1:172398325..172399061-chr1:172419028..172419711,2	MCF-7	breast:
6	chr1:172423159..172425302-chr1:172434967..172437854,2	K562	blood:
7	chr1:172419156..172419700-chr1:172503275..172503932,2	MCF-7	breast:
8	chr1:172419133..172419664-chr1:172696878..172697829,2	K562	blood:
9	chr1:172416845..172420491-chr1:172421660..172424212,3	MCF-7	breast:
10	chr1:172423456..172425141-chr1:172439304..172441807,2	MCF-7	breast:
11	chr1:172416845..172420491-chr1:172421660..172424212,3	MCF-7	breast:
12	chr1:172327243..172328745-chr1:172418219..172419831,2	MCF-7	breast:
13	chr1:172418803..172419732-chr1:172578542..172579221,4	MCF-7	breast:
14	chr1:172418680..172423994-chr1:172424179..172427425,9	K562	blood:
15	chr1:172422603..172424142-chr1:172686598..172688545,2	K562	blood:
16	chr1:172418197..172419975-chr1:172480214..172481768,2	MCF-7	breast:
17	chr1:172419256..172421468-chr1:172500783..172504604,4	K562	blood:
18	chr1:172418092..172419733-chr1:172445872..172448682,2	MCF-7	breast:
19	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:
20	chr1:172424018..172425586-chr1:172428604..172431117,2	MCF-7	breast:
21	chr1:172424634..172427242-chr1:172501773..172503661,2	K562	blood:
22	chr1:172418550..172419714-chr1:172502016..172503069,7	MCF-7	breast:
23	chr1:172418751..172419678-chr1:172500342..172501547,4	MCF-7	breast:
24	chr1:172418801..172419669-chr1:172502176..172502929,3	MCF-7	breast:
25	chr1:172424806..172427327-chr1:172442354..172444546,2	K562	blood:
26	chr1:172418751..172419643-chr1:172696748..172697418,2	MCF-7	breast:
27	chr1:172424577..172428179-chr1:172432936..172436008,3	K562	blood:
28	chr1:172424634..172428782-chr1:172501344..172503706,6	K562	blood:
29	chr1:172422534..172424842-chr1:172429005..172432418,3	K562	blood:
30	chr1:172407688..172409454-chr1:172424821..172426933,2	K562	blood:

Variant related genes	Relation type
C1orf105	TF binding region
ENSG00000094975	chromatin interactions
ENSG00000180999	chromatin interactions

Extended variants
information (count: 184 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146707777	chr1:172419607-172419608	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs140267164	chr1:172419612-172419613	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs4916187	chr1:172419615-172419616	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs112348774	chr1:172419645-172419646	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs190449979	chr1:172419648-172419649	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs2269613	chr1:172419651-172419652	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs372283258	chr1:172419693-172419694	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs181643722	chr1:172419734-172419735	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs568892658	chr1:172419758-172419759	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs116699143	chr1:172419796-172419797	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs551575504	chr1:172419850-172419851	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs539346522	chr1:172419864-172419865	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs367876683	chr1:172419872-172419873	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs146414762	chr1:172419877-172419878	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs575583359	chr1:172419891-172419892	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs370398354	chr1:172419892-172419893	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs567413294	chr1:172419894-172419895	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs61806104	chr1:172419901-172419902	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs149010909	chr1:172419911-172419912	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs739249	chr1:172419960-172419961	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs545163148	chr1:172420041-172420042	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs540004793	chr1:172420085-172420086	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs553580086	chr1:172420094-172420095	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs573387225	chr1:172420106-172420107	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs559923308	chr1:172420117-172420118	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs540429065	chr1:172420157-172420158	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs143836718	chr1:172420191-172420192	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs529573234	chr1:172420255-172420256	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs148161023	chr1:172420275-172420276	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs186778736	chr1:172420290-172420291	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs141069321	chr1:172420446-172420447	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs192083241	chr1:172420449-172420450	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs377017525	chr1:172420455-172420456	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs6673869	chr1:172420472-172420473	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566812859	chr1:172420619-172420620	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs6674073	chr1:172420658-172420659	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548875777	chr1:172420679-172420680	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs146743290	chr1:172420711-172420712	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs376089753	chr1:172420762-172420763	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs556581208	chr1:172420782-172420783	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs6689377	chr1:172420831-172420832	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556485572	chr1:172420839-172420840	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571307711	chr1:172420905-172420906	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs142055331	chr1:172420915-172420916	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs551338441	chr1:172420923-172420924	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs111954558	chr1:172420984-172420985	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs115589465	chr1:172420999-172421000	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs183929790	chr1:172421007-172421008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs386368749	chr1:172421008-172421009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11462736	chr1:172421029-172421030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Intellectual disability	22102821	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
Retinoblastoma	19183342	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
Burkitt''s lymphoma	19759907	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:172415400-172420000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:172415400-172420400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:172416400-172419800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:172416400-172419800	Enhancers	Fetal Intestine Small	intestine
7	chr1:172416400-172420000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:172416400-172420600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:172416400-172420600	Enhancers	HMEC	breast
10	chr1:172417200-172420600	Enhancers	NHEK	skin
11	chr1:172417200-172421800	Weak transcription	Psoas Muscle	Psoas
12	chr1:172417200-172423200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr1:172417600-172420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:172417800-172420600	Enhancers	Placenta	Placenta
15	chr1:172417800-172420600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:172417800-172420800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:172417800-172420800	Enhancers	Fetal Kidney	kidney
18	chr1:172418000-172420200	Flanking Active TSS	A549	lung
19	chr1:172418000-172420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:172418000-172420400	Enhancers	Stomach Mucosa	stomach
21	chr1:172418000-172420800	Enhancers	HUVEC	blood vessel
22	chr1:172418000-172422200	Enhancers	NH-A	brain
23	chr1:172418400-172420400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:172418400-172420600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:172418600-172419600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:172418600-172419800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:172418600-172420200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:172418600-172420400	Enhancers	Esophagus	oesophagus
29	chr1:172418800-172420000	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:172418800-172420000	Enhancers	Lung	lung
31	chr1:172418800-172420200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:172418800-172420400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:172418800-172420400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:172418800-172420400	Enhancers	Left Ventricle	heart
35	chr1:172418800-172420600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:172419000-172419600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr1:172419000-172419600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:172419000-172419600	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:172419000-172419600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:172419000-172419600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:172419000-172419600	Enhancers	Brain Hippocampus Middle	brain
42	chr1:172419000-172419600	Enhancers	Right Ventricle	heart
43	chr1:172419000-172419600	Active TSS	Stomach Smooth Muscle	stomach
44	chr1:172419000-172419600	Weak transcription	HSMMtube	muscle
45	chr1:172419000-172419800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr1:172419000-172419800	Enhancers	Fetal Thymus	thymus
47	chr1:172419000-172419800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:172419000-172420000	Enhancers	Brain Anterior Caudate	brain
49	chr1:172419000-172420000	Enhancers	Ovary	ovary
50	chr1:172419000-172420000	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links