Variant report

Variant	nsv872962
Chromosome Location	chr1:196632470-196692659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:383)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:196677817-196677904	K562	blood:	n/a	n/a
2	ATF1	chr1:196688114-196688182	K562	blood:	n/a	n/a
3	BCL3	chr1:196636272-196636547	GM12878	blood:	n/a	n/a
4	CEBPB	chr1:196638229-196638542	A549	lung:	n/a	chr1:196638387-196638398
5	CEBPB	chr1:196668165-196668487	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr1:196638258-196638580	IMR90	lung:	n/a	chr1:196638387-196638398
7	CEBPB	chr1:196638297-196638496	HepG2	liver:	n/a	chr1:196638387-196638398
8	CEBPB	chr1:196668143-196668497	IMR90	lung:	n/a	n/a
9	CEBPB	chr1:196638250-196638436	H1-hESC	embryonic stem cell:	n/a	chr1:196638387-196638398
10	CEBPB	chr1:196668180-196668480	MCF-7	breast:	n/a	n/a
11	CEBPB	chr1:196654628-196654936	Hela-S3	cervix:	n/a	chr1:196654791-196654802
12	CEBPB	chr1:196654655-196654907	HepG2	liver:	n/a	chr1:196654791-196654802
13	CEBPB	chr1:196668147-196668517	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr1:196638262-196638458	K562	blood:	n/a	chr1:196638387-196638398
15	CEBPB	chr1:196668150-196668503	HepG2	liver:	n/a	n/a
16	CEBPB	chr1:196668155-196668522	K562	blood:	n/a	n/a
17	CEBPB	chr1:196668158-196668487	A549	lung:	n/a	n/a
18	CTCF	chr1:196692558-196692772	GM13976	blood:	n/a	n/a
19	CTCF	chr1:196692560-196692710	GM06990	blood:	n/a	n/a
20	CTCF	chr1:196692600-196692750	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr1:196685580-196685730	BE2_C	brain:	n/a	n/a
22	CTCF	chr1:196692560-196692710	GM12868	blood:	n/a	n/a
23	CTCF	chr1:196692540-196692690	HAc	cerebellar:	n/a	n/a
24	CTCF	chr1:196692252-196693222	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr1:196692475-196692812	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr1:196692580-196692730	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr1:196692503-196692823	NHEK	skin:	n/a	n/a
28	CTCF	chr1:196659720-196659870	MCF-7	breast:	n/a	n/a
29	CTCF	chr1:196692600-196692750	GM06990	blood:	n/a	n/a
30	CTCF	chr1:196692498-196692835	IMR90	lung:	n/a	n/a
31	CTCF	chr1:196692445-196692847	K562	blood:	n/a	n/a
32	CTCF	chr1:196692560-196692710	HL-60	blood:	n/a	n/a
33	CTCF	chr1:196692580-196692730	GM12866	blood:	n/a	n/a
34	CTCF	chr1:196692600-196692750	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr1:196692547-196692779	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr1:196692440-196692590	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr1:196642455-196642609	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:196692560-196692710	GM12864	blood:	n/a	n/a
39	CTCF	chr1:196692537-196692783	GM10266	blood:	n/a	n/a
40	CTCF	chr1:196692580-196692730	AG04449	skin:	n/a	n/a
41	CTCF	chr1:196692600-196692750	GM12868	blood:	n/a	n/a
42	CTCF	chr1:196633580-196633730	MCF-7	breast:	n/a	n/a
43	CTCF	chr1:196692419-196692802	HepG2	liver:	n/a	n/a
44	CTCF	chr1:196692600-196692750	GM12865	blood:	n/a	n/a
45	CTCF	chr1:196692580-196692730	HepG2	liver:	n/a	n/a
46	CTCF	chr1:196692580-196692730	HMEC	breast:	n/a	n/a
47	CTCF	chr1:196692533-196692788	Medullo	brain:	n/a	n/a
48	CTCF	chr1:196692490-196692963	K562	blood:	n/a	n/a
49	CTCF	chr1:196692505-196692829	MCF-7	breast:	n/a	n/a
50	CTCF	chr1:196692528-196692761	GM20000	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196645088..196647729-chr1:196655612..196658233,2	K562	blood:
2	chr1:196594698..196597154-chr1:196642219..196645210,2	K562	blood:
3	chr1:196650074..196651729-chr1:196657061..196658986,2	K562	blood:
4	chr1:196620544..196622948-chr1:196643117..196644938,2	K562	blood:
5	chr1:196632296..196634609-chr1:196985462..196987948,2	K562	blood:
6	chr1:196692236..196693111-chr1:196859470..196860182,3	MCF-7	breast:
7	chr1:196650074..196651729-chr1:196657061..196659074,3	K562	blood:
8	chr1:196692213..196693146-chr1:196701336..196702240,4	MCF-7	breast:
9	chr1:196621426..196625290-chr1:196639780..196642382,3	K562	blood:
10	chr1:196687090..196688977-chr1:196689893..196692748,2	MCF-7	breast:
11	chr1:196625626..196628113-chr1:196631546..196633996,2	K562	blood:
12	chr1:196632196..196633107-chr10:26528370..26528947,2	MCF-7	breast:
13	chr1:196687090..196688977-chr1:196689893..196692748,2	MCF-7	breast:
14	chr1:196650074..196651729-chr1:196657061..196659074,3	K562	blood:
15	chr1:196650074..196651729-chr1:196657061..196658986,2	K562	blood:

No data

Variant related genes	Relation type
CFH	TF binding region
ENSG00000000971	chromatin interactions

Extended variants
information (count: 2569 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2569 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6680396	chr1:196632470-196632471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74723345	chr1:196632554-196632555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558721916	chr1:196632561-196632562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188932021	chr1:196632632-196632633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150195743	chr1:196632675-196632676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16840397	chr1:196632705-196632706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550660473	chr1:196632728-196632729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554937130	chr1:196632733-196632734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192503346	chr1:196632745-196632746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533026895	chr1:196632748-196632749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557452051	chr1:196632840-196632841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566503164	chr1:196632841-196632842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534221652	chr1:196632852-196632853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556029734	chr1:196633020-196633021	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139080040	chr1:196633050-196633051	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372410786	chr1:196633112-196633113	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184629699	chr1:196633113-196633114	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188999128	chr1:196633122-196633123	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372081330	chr1:196633134-196633135	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11340441	chr1:196633188-196633189	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192016571	chr1:196633197-196633198	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560278754	chr1:196633198-196633199	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527733315	chr1:196633229-196633230	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540113020	chr1:196633236-196633237	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547349332	chr1:196633276-196633277	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565686421	chr1:196633295-196633296	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561976459	chr1:196633298-196633299	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573392142	chr1:196633310-196633311	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529068351	chr1:196633345-196633346	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116609795	chr1:196633381-196633382	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569106779	chr1:196633398-196633399	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533050079	chr1:196633457-196633458	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551499340	chr1:196633494-196633495	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147069420	chr1:196633513-196633514	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566296333	chr1:196633566-196633567	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184861805	chr1:196633603-196633604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564657	chr1:196633606-196633607	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs567641186	chr1:196633642-196633643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538175648	chr1:196633665-196633666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189663301	chr1:196633719-196633720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543437771	chr1:196633723-196633724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180890413	chr1:196633739-196633740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538755880	chr1:196633761-196633762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563702896	chr1:196633839-196633840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569484965	chr1:196633884-196633885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184469524	chr1:196633969-196633970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189437668	chr1:196633992-196633993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572313756	chr1:196634021-196634022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543028301	chr1:196634073-196634074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181830866	chr1:196634085-196634086	Weak transcription Strong transcription	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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196623600-196642200	Weak transcription	HSMM	muscle
2	chr1:196623800-196632800	Weak transcription	K562	blood
3	chr1:196625000-196634800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:196625400-196634800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:196627800-196638800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
7	chr1:196629200-196672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:196630200-196635200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:196630200-196639000	Weak transcription	Right Atrium	heart
10	chr1:196630200-196646400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:196630400-196635200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:196630800-196633000	Weak transcription	Adipose Nuclei	Adipose
13	chr1:196630800-196633000	Weak transcription	Dnd41	blood
14	chr1:196631200-196632800	Weak transcription	Ovary	ovary
15	chr1:196631200-196634000	Weak transcription	Lung	lung
16	chr1:196631200-196636200	Weak transcription	NHDF-Ad	bronchial
17	chr1:196631400-196632800	Enhancers	Liver	Liver
18	chr1:196631400-196639000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:196631600-196634800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:196632800-196633000	Weak transcription	Liver	Liver
21	chr1:196632800-196633000	Enhancers	Ovary	ovary
22	chr1:196633000-196633200	Enhancers	Adipose Nuclei	Adipose
23	chr1:196633000-196633600	Genic enhancers	Liver	Liver
24	chr1:196633000-196633600	Genic enhancers	Ovary	ovary
25	chr1:196633000-196633600	Strong transcription	Dnd41	blood
26	chr1:196633600-196634800	Strong transcription	Liver	Liver
27	chr1:196633600-196634800	Weak transcription	Dnd41	blood
28	chr1:196633600-196638600	Weak transcription	Ovary	ovary
29	chr1:196634800-196635000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:196634800-196635200	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr1:196634800-196635400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:196634800-196637400	ZNF genes & repeats	Dnd41	blood
33	chr1:196634800-196639200	Genic enhancers	Liver	Liver
34	chr1:196635000-196635200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:196635200-196635400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:196635200-196635400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:196635200-196640000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:196635400-196636000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:196635400-196636000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:196635400-196636200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:196636000-196637800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:196636000-196638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:196636200-196636400	ZNF genes & repeats	NHDF-Ad	bronchial
44	chr1:196636200-196636600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:196636400-196636800	Weak transcription	NHDF-Ad	bronchial
46	chr1:196637200-196646800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:196637400-196637800	Strong transcription	Dnd41	blood
48	chr1:196637800-196641000	Weak transcription	Dnd41	blood
49	chr1:196637800-196642000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:196638200-196639800	ZNF genes & repeats	Fetal Muscle Leg	muscle

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