Variant report

Variant	nsv1013821
Chromosome Location	chr1:120122641-120140011
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	ATF1	chr1:120125462-120125747	K562	blood:	n/a	n/a
2	BRCA1	chr1:120125543-120125709	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr1:120123093-120123321	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr1:120125540-120125690	HEEpiC	esophagus:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
5	CTCF	chr1:120125529-120125735	GM12892	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
6	CTCF	chr1:120125560-120125710	BE2_C	brain:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
7	CTCF	chr1:120125236-120125917	SK-N-SH	brain:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
8	CTCF	chr1:120125580-120125730	HEEpiC	esophagus:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
9	CTCF	chr1:120125540-120125690	HPAF	blood vessel:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
10	CTCF	chr1:120125540-120125690	GM12878	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
11	CTCF	chr1:120125560-120125710	K562	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
12	CTCF	chr1:120125500-120125650	NHDF-neo	bronchial:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
13	CTCF	chr1:120125540-120125690	GM12872	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
14	CTCF	chr1:120125280-120125430	HAc	cerebellar:	n/a	n/a
15	CTCF	chr1:120125547-120125722	MCF-7	breast:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
16	CTCF	chr1:120125560-120125710	HEK293	kidney:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
17	CTCF	chr1:120125516-120125738	GM12878	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
18	CTCF	chr1:120125493-120125751	HepG2	liver:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
19	CTCF	chr1:120125445-120125799	K562	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
20	CTCF	chr1:120125840-120125990	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr1:120125560-120125710	HVMF	connective:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
22	CTCF	chr1:120125540-120125690	AG09309	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
23	CTCF	chr1:120128934-120128965	GM13976	blood:	n/a	n/a
24	CTCF	chr1:120125560-120125710	NHEK	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
25	CTCF	chr1:120125503-120125747	NHEK	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
26	CTCF	chr1:120125500-120125730	K562	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
27	CTCF	chr1:120125480-120125630	GM12864	blood:	n/a	n/a
28	CTCF	chr1:120125540-120125690	K562	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
29	CTCF	chr1:120125600-120125750	GM12866	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
30	CTCF	chr1:120125492-120125745	MCF-7	breast:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
31	CTCF	chr1:120125560-120125710	Hela-S3	cervix:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
32	CTCF	chr1:120125540-120125690	HVMF	connective:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
33	CTCF	chr1:120125600-120125750	GM12873	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
34	CTCF	chr1:120125600-120125750	GM12874	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
35	CTCF	chr1:120125520-120125670	GM12867	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
36	CTCF	chr1:120125520-120125670	AoAF	blood vessel:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
37	CTCF	chr1:120125433-120125744	A549	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
38	CTCF	chr1:120125502-120125797	SK-N-SH_RA	brain:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
39	CTCF	chr1:120125540-120125690	WI-38	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
40	CTCF	chr1:120125540-120125690	GM12869	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
41	CTCF	chr1:120125520-120125670	GM12872	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
42	CTCF	chr1:120125820-120125970	GM12875	blood:	n/a	n/a
43	CTCF	chr1:120130060-120130210	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr1:120123450-120123473	GM12892	blood:	n/a	n/a
45	CTCF	chr1:120125540-120125690	NB4	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
46	CTCF	chr1:120125540-120125690	GM12875	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
47	CTCF	chr1:120125560-120125710	NHLF	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
48	CTCF	chr1:120125560-120125710	HFF	foreskin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
49	CTCF	chr1:120125433-120125948	A549	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
50	CTCF	chr1:120125540-120125690	HMEC	breast:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120125219..120126121-chr1:120153919..120154547,2	MCF-7	breast:
2	chr1:120125200..120126107-chr1:120217588..120218409,3	K562	blood:

Variant related genes	Relation type
GAPDHP33	TF binding region
HSD3BP5	TF binding region

Extended variants
information (count: 769 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587619730	chr1:120122642-120122643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190100343	chr1:120122644-120122645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181865125	chr1:120122667-120122668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186290980	chr1:120122680-120122681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587674995	chr1:120122746-120122747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189531156	chr1:120122765-120122766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182267458	chr1:120122803-120122804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587768482	chr1:120122818-120122819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148148725	chr1:120122858-120122859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587725014	chr1:120122889-120122890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12143019	chr1:120122891-120122892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186210304	chr1:120122969-120122970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80044519	chr1:120122980-120122981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587606669	chr1:120123014-120123015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587661446	chr1:120123069-120123070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138026919	chr1:120123074-120123075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587598727	chr1:120123087-120123088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143478789	chr1:120123120-120123121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76303582	chr1:120123121-120123122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587613113	chr1:120123171-120123172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6428833	chr1:120123179-120123180	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs587708989	chr1:120123201-120123202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147141292	chr1:120123209-120123210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191352590	chr1:120123212-120123213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71672731	chr1:120123243-120123244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183111194	chr1:120123314-120123315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34726777	chr1:120123364-120123365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138540299	chr1:120123394-120123395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6704100	chr1:120123422-120123423	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368483425	chr1:120123426-120123427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587646419	chr1:120123427-120123428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587687172	chr1:120123434-120123435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374744256	chr1:120123446-120123447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188637460	chr1:120123525-120123526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587648931	chr1:120123555-120123556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587706321	chr1:120123560-120123561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587765783	chr1:120123576-120123577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587638958	chr1:120123580-120123581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113868607	chr1:120123585-120123586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587597837	chr1:120123593-120123594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587664933	chr1:120123620-120123621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10754411	chr1:120123642-120123643	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs587602204	chr1:120123685-120123686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192324841	chr1:120123688-120123689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587699056	chr1:120123701-120123702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587756486	chr1:120123712-120123713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587654226	chr1:120123727-120123728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587689033	chr1:120123730-120123731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587737442	chr1:120123731-120123732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587774957	chr1:120123732-120123733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	21364760	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
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	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	20164920	CNVD
Cancer	21272361	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120111800-120129800	Weak transcription	Left Ventricle	heart
2	chr1:120112000-120129600	Weak transcription	Right Atrium	heart
3	chr1:120115200-120160800	Weak transcription	Gastric	stomach
4	chr1:120117000-120128200	Weak transcription	Placenta	Placenta
5	chr1:120117000-120128600	Weak transcription	Spleen	Spleen
6	chr1:120117400-120125400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:120122000-120129000	Weak transcription	Ovary	ovary
8	chr1:120123000-120123400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:120123000-120123400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:120123000-120123600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:120123000-120123600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:120123000-120123600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:120123000-120123800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:120123200-120123600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:120123200-120123800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:120123600-120125400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:120123800-120125200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:120123800-120128200	Weak transcription	Fetal Intestine Small	intestine
19	chr1:120125400-120125600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:120125400-120125600	Bivalent Enhancer	HSMMtube	muscle
21	chr1:120125400-120126000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:120125400-120128200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:120125600-120126200	Enhancers	Fetal Stomach	stomach
24	chr1:120125600-120126400	Enhancers	Fetal Lung	lung
25	chr1:120125600-120126800	Enhancers	Fetal Muscle Leg	muscle
26	chr1:120125800-120126000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:120126000-120128000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:120126400-120130000	Weak transcription	Fetal Lung	lung
29	chr1:120126800-120127200	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:120127200-120127400	Enhancers	Fetal Muscle Leg	muscle
31	chr1:120127400-120128600	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:120128000-120129000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:120128000-120129000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:120128200-120128400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr1:120128200-120128800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr1:120128200-120128800	Enhancers	Placenta	Placenta
37	chr1:120128200-120129000	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:120128200-120129000	Enhancers	Fetal Intestine Small	intestine
39	chr1:120128200-120131000	Enhancers	Fetal Intestine Large	intestine
40	chr1:120128400-120128600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:120128600-120128800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:120128600-120128800	Enhancers	Fetal Muscle Leg	muscle
43	chr1:120128600-120128800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr1:120128600-120129400	Enhancers	Spleen	Spleen
45	chr1:120128800-120129000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:120128800-120129200	Enhancers	Fetal Kidney	kidney
47	chr1:120128800-120129200	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:120128800-120129600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:120128800-120129800	Weak transcription	Placenta	Placenta
50	chr1:120129000-120129400	Bivalent Enhancer	HSMM	muscle

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