Variant report

Variant	nsv946309
Chromosome Location	chr1:147310171-147314925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:160)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:160 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr1:147311445-147311805	GM12878	blood:	n/a	n/a
2	BHLHE40	chr1:147314816-147315023	HepG2	liver:	n/a	chr1:147314922-147314931 chr1:147314921-147314930 chr1:147314922-147314931 chr1:147314916-147314937
3	BHLHE40	chr1:147314786-147315093	K562	blood:	n/a	chr1:147314922-147314931 chr1:147314921-147314930 chr1:147314922-147314931 chr1:147314916-147314937
4	CTCF	chr1:147312900-147313050	RPTEC	kidney:	n/a	n/a
5	CTCF	chr1:147313133-147313323	GM12891	blood:	n/a	n/a
6	CTCF	chr1:147313160-147313310	AG10803	skin:	n/a	n/a
7	CTCF	chr1:147313128-147313325	MCF-7	breast:	n/a	n/a
8	CTCF	chr1:147313140-147313290	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr1:147313154-147313302	GM12892	blood:	n/a	n/a
10	CTCF	chr1:147313160-147313310	GM12875	blood:	n/a	n/a
11	CTCF	chr1:147313120-147313270	GM12871	blood:	n/a	n/a
12	CTCF	chr1:147312988-147313473	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:147313140-147313290	GM12874	blood:	n/a	n/a
14	CTCF	chr1:147313100-147313250	GM12874	blood:	n/a	n/a
15	CTCF	chr1:147313180-147313330	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:147313180-147313330	HMF	breast:	n/a	n/a
17	CTCF	chr1:147312980-147313130	HCM	heart:	n/a	n/a
18	CTCF	chr1:147313120-147313270	GM12867	blood:	n/a	n/a
19	CTCF	chr1:147313140-147313290	AG04449	skin:	n/a	n/a
20	CTCF	chr1:147313120-147313270	GM12870	blood:	n/a	n/a
21	CTCF	chr1:147313100-147313250	Caco-2	colon:	n/a	n/a
22	CTCF	chr1:147313140-147313290	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr1:147313160-147313310	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr1:147313120-147313270	HEK293	kidney:	n/a	n/a
25	CTCF	chr1:147313148-147313364	GM12878	blood:	n/a	n/a
26	CTCF	chr1:147313140-147313290	NB4	blood:	n/a	n/a
27	CTCF	chr1:147313260-147313410	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr1:147313080-147313230	GM12801	blood:	n/a	n/a
29	CTCF	chr1:147313123-147313344	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr1:147313149-147313288	HepG2	liver:	n/a	n/a
31	CTCF	chr1:147313100-147313250	GM12869	blood:	n/a	n/a
32	CTCF	chr1:147313160-147313310	GM06990	blood:	n/a	n/a
33	CTCF	chr1:147313240-147313390	HFF	foreskin:	n/a	n/a
34	CTCF	chr1:147313160-147313310	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr1:147313035-147313383	K562	blood:	n/a	n/a
36	CTCF	chr1:147313140-147313290	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:147313160-147313310	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr1:147313200-147313350	GM12865	blood:	n/a	n/a
39	CTCF	chr1:147313145-147313295	A549	lung:	n/a	n/a
40	CTCF	chr1:147313180-147313330	GM12868	blood:	n/a	n/a
41	CTCF	chr1:147313120-147313270	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr1:147313140-147313290	RPTEC	kidney:	n/a	n/a
43	CTCF	chr1:147313280-147313430	RPTEC	kidney:	n/a	n/a
44	CTCF	chr1:147313160-147313310	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr1:147313158-147313287	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr1:147313140-147313290	GM12864	blood:	n/a	n/a
47	CTCF	chr1:147313142-147313273	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr1:147313140-147313290	AG09319	gingival:	n/a	n/a
49	CTCF	chr1:147313123-147313328	HepG2	liver:	n/a	n/a
50	CTCF	chr1:147313180-147313330	GM12864	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:147306497..147308637-chr1:147308840..147310925,2	MCF-7	breast:
2	chr1:147313489..147315540-chr1:147360218..147362457,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223728	TF binding region

Extended variants
information (count: 228 )
Associated
traits (count: 148 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189097186	chr1:147310201-147310202	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs192087920	chr1:147310239-147310240	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs587649634	chr1:147310315-147310316	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs587712710	chr1:147310323-147310324	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs76467474	chr1:147310327-147310328	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs587644173	chr1:147310403-147310404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587743823	chr1:147310422-147310423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75931967	chr1:147310476-147310477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141745662	chr1:147310510-147310511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143704753	chr1:147310528-147310529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587729746	chr1:147310541-147310542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184805109	chr1:147310574-147310575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587655562	chr1:147310576-147310577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587741205	chr1:147310593-147310594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372295209	chr1:147310621-147310622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376272879	chr1:147310650-147310651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7536576	chr1:147310661-147310662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372271980	chr1:147310685-147310686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587728446	chr1:147310738-147310739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4950490	chr1:147310764-147310765	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs587703926	chr1:147310892-147310893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs587752874	chr1:147310909-147310910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146588047	chr1:147310928-147310929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587683265	chr1:147310994-147310995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587767096	chr1:147311034-147311035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368051755	chr1:147311046-147311047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145584140	chr1:147311047-147311048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190582173	chr1:147311048-147311049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587741918	chr1:147311099-147311100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587606719	chr1:147311144-147311145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587771922	chr1:147311161-147311162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368758166	chr1:147311190-147311191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587727780	chr1:147311191-147311192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372765428	chr1:147311233-147311234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199897662	chr1:147311238-147311239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180933399	chr1:147311262-147311263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201012050	chr1:147311271-147311272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202015580	chr1:147311273-147311274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587711780	chr1:147311275-147311276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200332212	chr1:147311277-147311278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200965388	chr1:147311279-147311280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36107054	chr1:147311280-147311281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147620945	chr1:147311281-147311282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201948087	chr1:147311282-147311283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200544687	chr1:147311285-147311286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587594328	chr1:147311293-147311294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587671275	chr1:147311294-147311295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587749347	chr1:147311295-147311296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184356619	chr1:147311309-147311310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587667968	chr1:147311315-147311316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:148)

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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	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	19286668	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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20369283	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Obesity	21131291	CNVD
Melanoma	21430779	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Neuroblastoma	19536264	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	21811587	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147297200-147320800	Weak transcription	Right Atrium	heart
2	chr1:147308200-147311000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:147308800-147310200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:147309000-147310200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:147309000-147310400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:147309000-147310400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:147309000-147310400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:147309000-147310600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:147309000-147310600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:147309000-147310600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:147309200-147310200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:147309200-147310200	Bivalent Enhancer	Fetal Lung	lung
13	chr1:147309200-147310600	Enhancers	Placenta	Placenta
14	chr1:147309600-147310200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:147309600-147310200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:147309600-147310200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:147309800-147310200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:147309800-147310400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:147309800-147318200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:147310000-147310200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:147310000-147310200	Flanking Active TSS	Hela-S3	cervix
22	chr1:147310000-147310600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:147310000-147311000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:147310000-147311000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:147310200-147310400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:147310200-147310600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:147310200-147310800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:147310200-147310800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:147310200-147321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:147310400-147310800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:147310400-147311800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:147310600-147311800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:147310600-147314200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:147310800-147311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:147310800-147311800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:147311800-147312000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:147311800-147312000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:147311800-147312000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:147311800-147312200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:147314200-147314600	Enhancers	Lung	lung
41	chr1:147314200-147315000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:147314400-147314600	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links