Variant report

Variant	nsv878996
Chromosome Location	chr4:46555042-46734901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:480)
CpG islands
(count:123)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:46604467-46604700	GM12878	blood:	n/a	n/a
2	CCNT2	chr4:46711119-46711313	K562	blood:	n/a	n/a
3	CEBPB	chr4:46670599-46670937	HepG2	liver:	n/a	chr4:46670759-46670772 chr4:46670759-46670772 chr4:46670760-46670771
4	CEBPB	chr4:46608580-46608751	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr4:46630064-46630372	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr4:46611326-46611653	HepG2	liver:	n/a	chr4:46611479-46611488
7	CEBPB	chr4:46563515-46563858	IMR90	lung:	n/a	n/a
8	CEBPB	chr4:46670619-46670896	H1-hESC	embryonic stem cell:	n/a	chr4:46670759-46670772 chr4:46670759-46670772 chr4:46670760-46670771
9	CEBPB	chr4:46611345-46611641	IMR90	lung:	n/a	chr4:46611479-46611488
10	CEBPB	chr4:46670606-46670927	A549	lung:	n/a	chr4:46670759-46670772 chr4:46670759-46670772 chr4:46670760-46670771
11	CEBPB	chr4:46650166-46650506	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr4:46563532-46563834	HepG2	liver:	n/a	n/a
13	CEBPB	chr4:46670638-46670838	Hela-S3	cervix:	n/a	chr4:46670759-46670772 chr4:46670759-46670772 chr4:46670760-46670771
14	CHD2	chr4:46678461-46678551	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr4:46650280-46650430	NHEK	skin:	n/a	n/a
16	CTCF	chr4:46650300-46650450	HAc	cerebellar:	n/a	n/a
17	CTCF	chr4:46650280-46650430	HMEC	breast:	n/a	n/a
18	CTCF	chr4:46650300-46650450	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr4:46650280-46650430	GM12878	blood:	n/a	n/a
20	CTCF	chr4:46650580-46650730	HCM	heart:	n/a	n/a
21	CTCF	chr4:46650300-46650450	A549	lung:	n/a	n/a
22	CTCF	chr4:46650236-46650488	GM19240	blood:	n/a	n/a
23	CTCF	chr4:46650260-46650410	GM12874	blood:	n/a	n/a
24	CTCF	chr4:46650300-46650450	GM12865	blood:	n/a	n/a
25	CTCF	chr4:46650246-46650472	GM12891	blood:	n/a	n/a
26	CTCF	chr4:46650260-46650410	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr4:46650344-46650393	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr4:46650197-46650497	GM12892	blood:	n/a	n/a
29	CTCF	chr4:46650180-46650330	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr4:46650245-46650494	GM10266	blood:	n/a	n/a
31	CTCF	chr4:46717520-46717670	BE2_C	brain:	n/a	n/a
32	CTCF	chr4:46650300-46650450	HPF	lung:	n/a	n/a
33	CTCF	chr4:46684599-46684632	GM13976	blood:	n/a	n/a
34	CTCF	chr4:46650340-46650490	AG04450	lung:	n/a	n/a
35	CTCF	chr4:46650260-46650410	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr4:46650280-46650430	GM12871	blood:	n/a	n/a
37	CTCF	chr4:46650260-46650410	HepG2	liver:	n/a	n/a
38	CTCF	chr4:46613650-46613675	GM10248	blood:	n/a	n/a
39	CTCF	chr4:46650285-46650411	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr4:46650320-46650470	HCT-116	colon:	n/a	n/a
41	CTCF	chr4:46650268-46650462	GM20000	blood:	n/a	n/a
42	CTCF	chr4:46698861-46698902	GM20000	blood:	n/a	n/a
43	CTCF	chr4:46650280-46650430	AG04450	lung:	n/a	n/a
44	CTCF	chr4:46650269-46650449	MCF-7	breast:	n/a	n/a
45	CTCF	chr4:46650340-46650490	BE2_C	brain:	n/a	n/a
46	CTCF	chr4:46717660-46717810	Caco-2	colon:	n/a	n/a
47	CTCF	chr4:46562940-46563090	HCM	heart:	n/a	chr4:46562989-46562997
48	CTCF	chr4:46608700-46608850	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr4:46650274-46650441	Fibrobl	skin:	n/a	n/a
50	CTCF	chr4:46650220-46650370	GM12868	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:46726121-46726171	T-47D	breast:	n/a
2	chr4:46726121-46726171	T-47D	breast:	n/a
3	chr4:46726121-46726171	HCM	heart:	n/a
4	chr4:46726121-46726171	RPTEC	kidney:	n/a
5	chr4:46726121-46726171	NB4	blood:	n/a
6	chr4:46725938-46725988	AG10803	skin:	n/a
7	chr4:46725938-46725988	AG04449	skin:	fetal
8	chr4:46726121-46726171	AG04450	lung:	fetal
9	chr4:46725938-46725988	BE2_C	brain:	n/a
10	chr4:46726121-46726171	NHBE	bronchial:	n/a
11	chr4:46726121-46726171	K562	blood:	n/a
12	chr4:46725938-46725988	NT2-D1	testis:	n/a
13	chr4:46725938-46725988	CMK	blood:	n/a
14	chr4:46726121-46726171	CMK	blood:	n/a
15	chr4:46725938-46725988	Hepatocyte	liver:	n/a
16	chr4:46725938-46725988	HNPCEpiC	eye:	n/a
17	chr4:46725938-46725988	NH-A	brain:	n/a
18	chr4:46725938-46725988	SKMC	muscle:	n/a
19	chr4:46725938-46725988	PANC-1	pancreas:	n/a
20	chr4:46726121-46726171	HL-60	blood:	n/a
21	chr4:46726121-46726171	ovcar-3	ovarian:	n/a
22	chr4:46725938-46725988	T-47D	breast:	n/a
23	chr4:46726121-46726171	Hepatocyte	liver:	n/a
24	chr4:46725938-46725988	HL-60	blood:	n/a
25	chr4:46725938-46725988	HRE	kidney:	n/a
26	chr4:46726121-46726171	HPAEpiC	pulmonary alveolar:	n/a
27	chr4:46725938-46725988	AG09309	skin:	n/a
28	chr4:46726121-46726171	U87	brain:	n/a
29	chr4:46726121-46726171	HCF	heart:	n/a
30	chr4:46726121-46726171	HIPEpiC	eye:	n/a
31	chr4:46725938-46725988	A549	lung:	n/a
32	chr4:46726121-46726171	BE2_C	brain:	n/a
33	chr4:46726121-46726171	GM12878	blood:	n/a
34	chr4:46725938-46725988	HPAEpiC	pulmonary alveolar:	n/a
35	chr4:46725938-46725988	GM12891	blood:	n/a
36	chr4:46725938-46725988	Caco-2	colon:	n/a
37	chr4:46725938-46725988	HepG2	liver:	n/a
38	chr4:46725938-46725988	ProgFib	skin:	n/a
39	chr4:46726121-46726171	ECC-1	luminal epithelium:	n/a
40	chr4:46725938-46725988	H1-hESC	embryonic stem cell:	embryo
41	chr4:46726121-46726171	MCF10A-Er-Src	breast:	n/a
42	chr4:46725938-46725988	HCF	heart:	n/a
43	chr4:46725938-46725988	AoSMC	blood vessel:	n/a
44	chr4:46726121-46726171	HEK293	kidney:	embryo
45	chr4:46726121-46726171	GM12891	blood:	n/a
46	chr4:46725938-46725988	LNCaP	prostate:	n/a
47	chr4:46725938-46725988	HRPEpiC	eye:	n/a
48	chr4:46725938-46725988	HUVEC	blood vessel:	n/a
49	chr4:46725938-46725988	MCF10A-Er-Src	breast:	n/a
50	chr4:46726121-46726171	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:46444130..46446100-chr4:46557651..46559731,2	K562	blood:
2	chr4:46733082..46735429-chr4:46735919..46738940,3	K562	blood:

No data

Variant related genes	Relation type
RAC1P2	TF binding region
RAC1P2	CpG island

Extended variants
information (count: 1106 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551800352	chr4:46556224-46556225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147769776	chr4:46556233-46556234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570036256	chr4:46556255-46556256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561578442	chr4:46556264-46556265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10517164	chr4:46556265-46556266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139494725	chr4:46556350-46556351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184539053	chr4:46556371-46556372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114266314	chr4:46556372-46556373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149951945	chr4:46556375-46556376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551359876	chr4:46556395-46556396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575714233	chr4:46556457-46556458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376288899	chr4:46556466-46556467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374584115	chr4:46556534-46556535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535290889	chr4:46556550-46556551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189293771	chr4:46556592-46556593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193114259	chr4:46556648-46556649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568262098	chr4:46556747-46556748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184594286	chr4:46556780-46556781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201159958	chr4:46556782-46556783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189236717	chr4:46556808-46556809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539758970	chr4:46556855-46556856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78168232	chr4:46556864-46556865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575990678	chr4:46556937-46556938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543153942	chr4:46556969-46556970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4576046	chr4:46557025-46557026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573812613	chr4:46557067-46557068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181643215	chr4:46557097-46557098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565846704	chr4:46557124-46557125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559612197	chr4:46557132-46557133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12508971	chr4:46557146-46557147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545299451	chr4:46557179-46557180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367948336	chr4:46557213-46557214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574755439	chr4:46557214-46557215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75982034	chr4:46557229-46557230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59415827	chr4:46557232-46557233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557354683	chr4:46557260-46557261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530831289	chr4:46557261-46557262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549948561	chr4:46557266-46557267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561732903	chr4:46557291-46557292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114375870	chr4:46557441-46557442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16859477	chr4:46557475-46557476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565942602	chr4:46557499-46557500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34016189	chr4:46557531-46557532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112613785	chr4:46557543-46557544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35084043	chr4:46557568-46557569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184295836	chr4:46557602-46557603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370782798	chr4:46557638-46557639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555428704	chr4:46557641-46557642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573653979	chr4:46557655-46557656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534725249	chr4:46557706-46557707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:46556200-46557400	Enhancers	Fetal Brain Male	brain
2	chr4:46556600-46557200	Enhancers	Fetal Brain Female	brain
3	chr4:46557200-46557600	Weak transcription	Fetal Brain Female	brain
4	chr4:46557400-46557800	Weak transcription	Fetal Brain Male	brain
5	chr4:46557600-46558000	Enhancers	Fetal Brain Female	brain
6	chr4:46557800-46558000	Enhancers	Fetal Brain Male	brain
7	chr4:46558000-46561000	Weak transcription	Fetal Brain Male	brain
8	chr4:46559000-46559800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:46559000-46560000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:46561000-46561200	Enhancers	Fetal Brain Male	brain
11	chr4:46561200-46561600	Weak transcription	Fetal Brain Male	brain
12	chr4:46561600-46562000	Enhancers	Fetal Brain Male	brain
13	chr4:46587600-46588800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:46588400-46589000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:46588400-46589600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:46588600-46589000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:46588600-46589000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:46594000-46594400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:46603600-46604000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:46604000-46605000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:46605000-46605400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:46634400-46634800	Active TSS	Fetal Heart	heart
23	chr4:46649600-46649800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:46649600-46650200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr4:46649800-46650200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:46649800-46650200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:46649800-46650200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:46650000-46650200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:46650000-46650200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:46655600-46656000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:46657400-46659800	Enhancers	Fetal Intestine Large	intestine
32	chr4:46657800-46659600	Enhancers	Fetal Intestine Small	intestine
33	chr4:46658000-46658800	Enhancers	Fetal Kidney	kidney
34	chr4:46658200-46658800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr4:46659600-46660600	Weak transcription	Fetal Intestine Small	intestine
36	chr4:46660600-46661400	Enhancers	Fetal Intestine Small	intestine
37	chr4:46670600-46671200	Enhancers	Dnd41	blood
38	chr4:46676000-46677200	Enhancers	Fetal Brain Male	brain
39	chr4:46678200-46678800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:46678800-46679000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:46679000-46679400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:46691200-46691600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:46691600-46692000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:46700600-46701000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:46700600-46701200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:46700800-46701400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:46701400-46701600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:46707400-46708600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:46708600-46711200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:46711200-46712000	Enhancers	Cortex derived primary cultured neurospheres	brain

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