Variant report

Variant	nsv946187
Chromosome Location	chr1:120370078-120406007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:414)
CpG islands
(count:610)
Chromatin interactive
region (count:21)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:120402048-120402592	K562	blood:	n/a	n/a
2	ARID3A	chr1:120386952-120387123	K562	blood:	n/a	n/a
3	ARID3A	chr1:120392364-120392392	K562	blood:	n/a	n/a
4	ATF1	chr1:120383498-120383699	K562	blood:	n/a	n/a
5	ATF1	chr1:120402001-120402616	K562	blood:	n/a	n/a
6	ATF1	chr1:120391966-120392057	K562	blood:	n/a	n/a
7	ATF1	chr1:120398236-120398340	K562	blood:	n/a	n/a
8	ATF3	chr1:120402162-120402649	K562	blood:	n/a	n/a
9	BATF	chr1:120386780-120387005	GM12878	blood:	n/a	n/a
10	BATF	chr1:120386771-120387113	GM12878	blood:	n/a	n/a
11	BCL11A	chr1:120387330-120387656	GM12878	blood:	n/a	n/a
12	BHLHE40	chr1:120387086-120387158	K562	blood:	n/a	n/a
13	BHLHE40	chr1:120402075-120402625	K562	blood:	n/a	n/a
14	BHLHE40	chr1:120385809-120385829	K562	blood:	n/a	n/a
15	BHLHE40	chr1:120386765-120387007	HepG2	liver:	n/a	n/a
16	CBX3	chr1:120402018-120402716	K562	blood:	n/a	n/a
17	CEBPB	chr1:120402181-120402652	K562	blood:	n/a	n/a
18	CEBPB	chr1:120380862-120381233	HepG2	liver:	n/a	chr1:120381035-120381046 chr1:120381036-120381047 chr1:120381035-120381048
19	CEBPB	chr1:120380868-120381220	K562	blood:	n/a	chr1:120381035-120381046 chr1:120381036-120381047 chr1:120381035-120381048
20	CEBPB	chr1:120402260-120402530	K562	blood:	n/a	n/a
21	CEBPB	chr1:120380857-120381208	IMR90	lung:	n/a	chr1:120381035-120381046 chr1:120381036-120381047 chr1:120381035-120381048
22	CEBPD	chr1:120383271-120383766	K562	blood:	n/a	n/a
23	CEBPD	chr1:120402145-120402665	K562	blood:	n/a	n/a
24	CEBPD	chr1:120383335-120383800	K562	blood:	n/a	n/a
25	CTCF	chr1:120386920-120387070	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr1:120386919-120387030	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr1:120387100-120387250	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr1:120387080-120387230	HCM	heart:	n/a	n/a
29	CTCF	chr1:120386960-120387110	GM12873	blood:	n/a	n/a
30	CTCF	chr1:120370060-120370210	K562	blood:	n/a	n/a
31	CTCF	chr1:120386960-120387110	HRE	kidney:	n/a	n/a
32	CTCF	chr1:120386926-120387136	GM13977	blood:	n/a	n/a
33	CTCF	chr1:120386980-120387130	GM12874	blood:	n/a	n/a
34	CTCF	chr1:120386660-120386810	K562	blood:	n/a	n/a
35	CTCF	chr1:120386980-120387130	GM06990	blood:	n/a	n/a
36	CTCF	chr1:120386980-120387130	BE2_C	brain:	n/a	n/a
37	CTCF	chr1:120386960-120387110	GM12871	blood:	n/a	n/a
38	CTCF	chr1:120386960-120387110	GM12869	blood:	n/a	n/a
39	CTCF	chr1:120386940-120387090	HVMF	connective:	n/a	n/a
40	CTCF	chr1:120386798-120387209	A549	lung:	n/a	n/a
41	CTCF	chr1:120386680-120386830	HCFaa	heart:	n/a	n/a
42	CTCF	chr1:120386992-120387062	GM12878	blood:	n/a	n/a
43	CTCF	chr1:120387040-120387190	GM12864	blood:	n/a	n/a
44	CTCF	chr1:120386960-120387110	HMEC	breast:	n/a	n/a
45	CTCF	chr1:120386900-120387050	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr1:120386940-120387090	HCM	heart:	n/a	n/a
47	CTCF	chr1:120387020-120387170	GM12872	blood:	n/a	n/a
48	CTCF	chr1:120387060-120387210	NHLF	lung:	n/a	n/a
49	CTCF	chr1:120378720-120378870	K562	blood:	n/a	n/a
50	CTCF	chr1:120386909-120387052	Lung_OC	lung:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120387965-120388015	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:120389211-120389261	AG04449	skin:	fetal
3	chr1:120395943-120395993	AG09309	skin:	n/a
4	chr1:120396167-120396217	GM06990	blood:	n/a
5	chr1:120395943-120395993	HepG2	liver:	n/a
6	chr1:120394120-120394170	SK-N-MC	brain:	n/a
7	chr1:120395857-120395907	HRPEpiC	eye:	n/a
8	chr1:120395857-120395907	NHDF-neo	bronchial:	n/a
9	chr1:120377779-120377829	HepG2	liver:	n/a
10	chr1:120395857-120395907	AG09309	skin:	n/a
11	chr1:120394120-120394170	HNPCEpiC	eye:	n/a
12	chr1:120387083-120387133	NB4	blood:	n/a
13	chr1:120396074-120396124	HMEC	breast:	n/a
14	chr1:120396167-120396217	SK-N-MC	brain:	n/a
15	chr1:120395857-120395907	HEEpiC	esophagus:	n/a
16	chr1:120395943-120395993	U87	brain:	n/a
17	chr1:120387299-120387349	A549	lung:	n/a
18	chr1:120387965-120388015	AG04450	lung:	fetal
19	chr1:120396074-120396124	NH-A	brain:	n/a
20	chr1:120389211-120389261	MCF10A-Er-Src	breast:	n/a
21	chr1:120395857-120395907	Hela-S3	cervix:	n/a
22	chr1:120396167-120396217	HUVEC	blood vessel:	n/a
23	chr1:120396074-120396124	AG10803	skin:	n/a
24	chr1:120395943-120395993	AG04449	skin:	fetal
25	chr1:120377779-120377829	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:120387083-120387133	RPTEC	kidney:	n/a
27	chr1:120387083-120387133	Hepatocyte	liver:	n/a
28	chr1:120377779-120377829	HEK293	kidney:	embryo
29	chr1:120396074-120396124	NB4	blood:	n/a
30	chr1:120387299-120387349	BE2_C	brain:	n/a
31	chr1:120387083-120387133	H1-hESC	embryonic stem cell:	embryo
32	chr1:120396167-120396217	SK-N-SH_RA	brain:	n/a
33	chr1:120396167-120396217	Jurkat	blood:	n/a
34	chr1:120396167-120396217	A549	lung:	n/a
35	chr1:120395943-120395993	HEEpiC	esophagus:	n/a
36	chr1:120377779-120377829	MCF10A-Er-Src	breast:	n/a
37	chr1:120387083-120387133	HepG2	liver:	n/a
38	chr1:120396074-120396124	HRE	kidney:	n/a
39	chr1:120396074-120396124	Hela-S3	cervix:	n/a
40	chr1:120395857-120395907	CMK	blood:	n/a
41	chr1:120396167-120396217	AG04450	lung:	fetal
42	chr1:120387299-120387349	HUVEC	blood vessel:	n/a
43	chr1:120389211-120389261	HUVEC	blood vessel:	n/a
44	chr1:120387965-120388015	GM06990	blood:	n/a
45	chr1:120387299-120387349	HIPEpiC	eye:	n/a
46	chr1:120387965-120388015	BJ	skin:	n/a
47	chr1:120396167-120396217	AG10803	skin:	n/a
48	chr1:120394120-120394170	K562	blood:	n/a
49	chr1:120389211-120389261	HCF	heart:	n/a
50	chr1:120396074-120396124	HAEpiC	amniotic membrane:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120366944..120369602-chr1:120374482..120376649,2	K562	blood:
2	chr1:120401899..120403872-chr1:120404616..120406616,2	K562	blood:
3	chr1:120400878..120403434-chr1:120429544..120432344,2	MCF-7	breast:
4	chr1:120400389..120402381-chr1:120411990..120414876,2	MCF-7	breast:
5	chr1:120401746..120405481-chr1:120411089..120413247,3	K562	blood:
6	chr1:120370478..120372574-chr1:120394062..120395720,2	MCF-7	breast:
7	chr1:120379572..120381597-chr1:120381872..120384134,2	MCF-7	breast:
8	chr1:120396123..120397960-chr1:120398634..120401481,2	MCF-7	breast:
9	chr1:120324664..120326745-chr1:120374346..120376019,2	MCF-7	breast:
10	chr1:120376398..120378437-chr1:120380310..120382183,2	MCF-7	breast:
11	chr1:120270844..120273756-chr1:120377482..120379845,2	MCF-7	breast:
12	chr1:120379572..120381597-chr1:120381872..120384134,2	MCF-7	breast:
13	chr1:120395990..120398388-chr1:120402021..120403587,2	MCF-7	breast:
14	chr1:120396123..120397960-chr1:120398634..120401481,2	MCF-7	breast:
15	chr1:120401899..120403872-chr1:120404616..120406616,2	K562	blood:
16	chr1:120395990..120398388-chr1:120402021..120403587,2	MCF-7	breast:
17	chr1:120370478..120372574-chr1:120394062..120395720,2	MCF-7	breast:
18	chr1:120376398..120378437-chr1:120380310..120382183,2	MCF-7	breast:
19	chr1:120402254..120403816-chr1:120407208..120410128,2	K562	blood:
20	chr1:120395050..120396919-chr1:120400456..120403382,2	K562	blood:
21	chr1:120402638..120409843-chr1:120411143..120414879,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM30-1	chr1:120390862-120391484	ENSG00000247433
2	lnc-PHGDH-2	chr1:120388521-120388629	XLOC_000371
3	lnc-PHGDH-2	chr1:120389145-120389383	XLOC_000371

No data

Variant related genes	Relation type
NBPF7	TF binding region
PFN1P9	TF binding region
NBPF7	CpG island
PFN1P9	CpG island
ENSG00000227205	chromatin interactions
ZDHHC2	miRNA target sites

Extended variants
information (count: 1201 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1201 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182278043	chr1:120370080-120370081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587638186	chr1:120370083-120370084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148427007	chr1:120370084-120370085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186802956	chr1:120370126-120370127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56384412	chr1:120370288-120370289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs587710179	chr1:120370399-120370400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142536314	chr1:120370449-120370450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587655556	chr1:120370493-120370494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587741220	chr1:120370612-120370613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190082922	chr1:120370640-120370641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182725779	chr1:120370645-120370646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587686603	chr1:120370701-120370702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59055697	chr1:120370777-120370778	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs587639684	chr1:120370780-120370781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587723504	chr1:120370833-120370834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188546815	chr1:120370840-120370841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587632328	chr1:120370878-120370879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587685139	chr1:120370921-120370922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192874594	chr1:120370956-120370957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185455607	chr1:120370980-120370981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376673531	chr1:120371005-120371006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587751613	chr1:120371027-120371028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587651174	chr1:120371029-120371030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587710113	chr1:120371038-120371039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587602179	chr1:120371056-120371057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587654623	chr1:120371064-120371065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188762457	chr1:120371073-120371074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587609120	chr1:120371075-120371076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150925655	chr1:120371090-120371091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587769575	chr1:120371094-120371095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56301838	chr1:120371147-120371148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192508858	chr1:120371164-120371165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375277353	chr1:120371165-120371166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369869141	chr1:120371174-120371175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373373335	chr1:120371200-120371201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587618856	chr1:120371209-120371210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2994816	chr1:120371217-120371218	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114407787	chr1:120371350-120371351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587614264	chr1:120371357-120371358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587697959	chr1:120371371-120371372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139990143	chr1:120371376-120371377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587650958	chr1:120371383-120371384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587679224	chr1:120371391-120371392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587755315	chr1:120371452-120371453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587647597	chr1:120371453-120371454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374394625	chr1:120371471-120371472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587708749	chr1:120371496-120371497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587627614	chr1:120371500-120371501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587666183	chr1:120371585-120371586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587746209	chr1:120371616-120371617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	21272361	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Aortic dissecting aneurysms	22263138	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120359000-120372200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:120370600-120372600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:120371400-120371600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:120371400-120372600	Enhancers	HSMM	muscle
5	chr1:120372000-120372400	Enhancers	HSMMtube	muscle
6	chr1:120372000-120372600	Enhancers	Fetal Intestine Large	intestine
7	chr1:120372000-120372800	Enhancers	Fetal Stomach	stomach
8	chr1:120372000-120373400	Enhancers	Fetal Muscle Leg	muscle
9	chr1:120372200-120373000	Enhancers	Brain Substantia Nigra	brain
10	chr1:120372200-120373000	Active TSS	Fetal Kidney	kidney
11	chr1:120372200-120373400	Enhancers	Brain Hippocampus Middle	brain
12	chr1:120372200-120373600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr1:120372400-120372800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:120372600-120373000	Weak transcription	HSMM	muscle
15	chr1:120372600-120373400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:120373000-120373400	Flanking Active TSS	Fetal Kidney	kidney
17	chr1:120373000-120373400	Enhancers	HSMM	muscle
18	chr1:120373000-120377000	Weak transcription	Brain Substantia Nigra	brain
19	chr1:120373400-120374000	Active TSS	Fetal Kidney	kidney
20	chr1:120375000-120375400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:120375000-120375400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr1:120375000-120375600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:120375200-120375600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:120376800-120377600	Enhancers	Brain Angular Gyrus	brain
25	chr1:120377000-120377600	Enhancers	Brain Substantia Nigra	brain
26	chr1:120377000-120377800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:120377600-120378000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr1:120380800-120381400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:120380800-120381400	Enhancers	GM12878-XiMat	blood
30	chr1:120381800-120383400	Enhancers	Fetal Muscle Leg	muscle
31	chr1:120382800-120384400	Enhancers	K562	blood
32	chr1:120383600-120383800	Enhancers	HSMMtube	muscle
33	chr1:120384400-120386800	Weak transcription	K562	blood
34	chr1:120387000-120387200	Enhancers	K562	blood
35	chr1:120389600-120390800	Enhancers	GM12878-XiMat	blood
36	chr1:120390600-120390800	Enhancers	NHEK	skin
37	chr1:120395000-120400400	Weak transcription	Fetal Intestine Small	intestine
38	chr1:120395800-120396000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:120395800-120396200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:120396000-120402400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:120397800-120398000	Enhancers	K562	blood
42	chr1:120398000-120398200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:120398200-120398600	Enhancers	HepG2	liver
44	chr1:120398200-120400600	Weak transcription	K562	blood
45	chr1:120398600-120400600	Weak transcription	HepG2	liver
46	chr1:120398600-120400800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:120400200-120402400	Enhancers	Fetal Intestine Large	intestine
48	chr1:120400400-120402600	Enhancers	Fetal Intestine Small	intestine
49	chr1:120400600-120401000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:120400600-120401000	Enhancers	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links