Variant report

Variant	nsv879002
Chromosome Location	chr4:46911379-46940376
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	ARID3A	chr4:46934060-46934203	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:46933916-46934355	IMR90	lung:	n/a	chr4:46934017-46934030 chr4:46934017-46934030 chr4:46934017-46934030
3	CEBPB	chr4:46933902-46934148	A549	lung:	n/a	chr4:46934017-46934030 chr4:46934017-46934030 chr4:46934017-46934030
4	CTCF	chr4:46933520-46933670	WI-38	lung:	n/a	n/a
5	CTCF	chr4:46939660-46939810	HL-60	blood:	n/a	chr4:46939700-46939707 chr4:46939696-46939714 chr4:46939697-46939713
6	CTCF	chr4:46934100-46934250	MCF-7	breast:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
7	CTCF	chr4:46939680-46939830	NB4	blood:	n/a	chr4:46939700-46939707 chr4:46939696-46939714 chr4:46939697-46939713
8	CTCF	chr4:46939660-46939810	GM12873	blood:	n/a	chr4:46939700-46939707 chr4:46939696-46939714 chr4:46939697-46939713
9	CTCF	chr4:46934100-46934250	HA-sp	spinal cord:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
10	CTCF	chr4:46934093-46934269	GM13976	blood:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
11	CTCF	chr4:46939599-46939793	Medullo	brain:	n/a	chr4:46939700-46939707 chr4:46939696-46939714 chr4:46939697-46939713
12	CTCF	chr4:46934120-46934270	HPF	lung:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
13	CTCF	chr4:46933980-46934130	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr4:46934060-46934210	Hela-S3	cervix:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
15	CTCF	chr4:46934060-46934210	RPTEC	kidney:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
16	CTCF	chr4:46934073-46934261	GM20000	blood:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
17	CTCF	chr4:46939560-46939710	BE2_C	brain:	n/a	chr4:46939700-46939707
18	CTCF	chr4:46934060-46934210	GM12871	blood:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
19	CTCF	chr4:46939640-46939790	AG10803	skin:	n/a	chr4:46939700-46939707 chr4:46939696-46939714 chr4:46939697-46939713
20	CTCF	chr4:46933920-46934070	HAc	cerebellar:	n/a	n/a
21	CTCF	chr4:46933800-46933950	WI-38	lung:	n/a	n/a
22	CTCF	chr4:46939680-46939830	MCF-7	breast:	n/a	chr4:46939700-46939707 chr4:46939696-46939714 chr4:46939697-46939713
23	CTCF	chr4:46934120-46934270	HMF	breast:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
24	CTCF	chr4:46934100-46934250	GM12868	blood:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
25	CTCF	chr4:46939760-46939910	NHLF	lung:	n/a	n/a
26	CTCF	chr4:46934029-46934294	Gliobla	brain:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
27	CTCF	chr4:46934400-46934550	GM12872	blood:	n/a	n/a
28	CTCF	chr4:46939560-46939710	AG04450	lung:	n/a	chr4:46939700-46939707
29	CTCF	chr4:46934100-46934250	WI-38	lung:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
30	CTCF	chr4:46939640-46939790	HPF	lung:	n/a	chr4:46939700-46939707 chr4:46939696-46939714 chr4:46939697-46939713
31	CTCF	chr4:46939646-46939753	LNCaP	prostate:	n/a	chr4:46939700-46939707 chr4:46939696-46939714 chr4:46939697-46939713
32	CTCF	chr4:46934100-46934250	GM12869	blood:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
33	CTCF	chr4:46934081-46934276	Pancreas_OC	pancreas:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
34	CTCF	chr4:46939660-46939810	HEEpiC	esophagus:	n/a	chr4:46939700-46939707 chr4:46939696-46939714 chr4:46939697-46939713
35	CTCF	chr4:46934097-46934246	K562	blood:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
36	CTCF	chr4:46934100-46934250	GM12873	blood:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
37	CTCF	chr4:46933940-46934090	A549	lung:	n/a	n/a
38	CTCF	chr4:46915599-46915631	GM10266	blood:	n/a	n/a
39	CTCF	chr4:46933836-46933910	GM13976	blood:	n/a	n/a
40	CTCF	chr4:46934140-46934290	AG10803	skin:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
41	CTCF	chr4:46934120-46934270	HPAF	blood vessel:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
42	CTCF	chr4:46934080-46934230	BE2_C	brain:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
43	CTCF	chr4:46934080-46934230	SK-N-SH_RA	brain:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
44	CTCF	chr4:46934080-46934230	GM12870	blood:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
45	CTCF	chr4:46934080-46934230	HFF-Myc	foreskin:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
46	CTCF	chr4:46934080-46934230	WERI-Rb-1	eye:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
47	CTCF	chr4:46934044-46934282	GM10266	blood:	n/a	chr4:46934169-46934190 chr4:46934167-46934185
48	CTCF	chr4:46939804-46939806	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr4:46939541-46939957	IMR90	lung:	n/a	chr4:46939700-46939707 chr4:46939696-46939714 chr4:46939697-46939713
50	CTCF	chr4:46939640-46939790	HMEC	breast:	n/a	chr4:46939700-46939707 chr4:46939696-46939714 chr4:46939697-46939713

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:46923365-46923415	NHBE	bronchial:	n/a
2	chr4:46911374-46911424	AG10803	skin:	n/a
3	chr4:46923365-46923415	HEEpiC	esophagus:	n/a
4	chr4:46923365-46923415	MCF-7	breast:	n/a
5	chr4:46923365-46923415	HCF	heart:	n/a
6	chr4:46923365-46923415	ECC-1	luminal epithelium:	n/a
7	chr4:46911333-46911383	NB4	blood:	n/a
8	chr4:46911374-46911424	NH-A	brain:	n/a
9	chr4:46911519-46911569	Hela-S3	cervix:	n/a
10	chr4:46923365-46923415	HCM	heart:	n/a
11	chr4:46923365-46923415	T-47D	breast:	n/a
12	chr4:46923365-46923415	HRPEpiC	eye:	n/a
13	chr4:46911550-46911600	HIPEpiC	eye:	n/a
14	chr4:46911519-46911569	GM12891	blood:	n/a
15	chr4:46911519-46911569	ECC-1	luminal epithelium:	n/a
16	chr4:46911374-46911424	NT2-D1	testis:	n/a
17	chr4:46911550-46911600	IMR90	lung:	fetal
18	chr4:46911333-46911383	AoSMC	blood vessel:	n/a
19	chr4:46923365-46923415	LNCaP	prostate:	n/a
20	chr4:46911374-46911424	NB4	blood:	n/a
21	chr4:46911550-46911600	AG10803	skin:	n/a
22	chr4:46911374-46911424	GM12891	blood:	n/a
23	chr4:46911333-46911383	SK-N-SH	brain:	n/a
24	chr4:46911550-46911600	Jurkat	blood:	n/a
25	chr4:46911519-46911569	NH-A	brain:	n/a
26	chr4:46911374-46911424	HCF	heart:	n/a
27	chr4:46911550-46911600	GM12878	blood:	n/a
28	chr4:46911333-46911383	MCF-7	breast:	n/a
29	chr4:46911374-46911424	GM12892	blood:	n/a
30	chr4:46911374-46911424	AG04449	skin:	fetal
31	chr4:46911550-46911600	SK-N-SH_RA	brain:	n/a
32	chr4:46911333-46911383	Caco-2	colon:	n/a
33	chr4:46911333-46911383	HUVEC	blood vessel:	n/a
34	chr4:46923365-46923415	SKMC	muscle:	n/a
35	chr4:46911333-46911383	HCPEpiC	choroid plexus:	n/a
36	chr4:46911333-46911383	HL-60	blood:	n/a
37	chr4:46923365-46923415	HCPEpiC	choroid plexus:	n/a
38	chr4:46923365-46923415	HRE	kidney:	n/a
39	chr4:46923365-46923415	Hepatocyte	liver:	n/a
40	chr4:46911333-46911383	ProgFib	skin:	n/a
41	chr4:46923365-46923415	HAEpiC	amniotic membrane:	n/a
42	chr4:46911374-46911424	AG04450	lung:	fetal
43	chr4:46911374-46911424	MCF-7	breast:	n/a
44	chr4:46911519-46911569	PrEC	prostate:	n/a
45	chr4:46911519-46911569	SAEC	small airway:	n/a
46	chr4:46923365-46923415	NHDF-neo	bronchial:	n/a
47	chr4:46923365-46923415	AG04450	lung:	fetal
48	chr4:46911374-46911424	SK-N-SH_RA	brain:	n/a
49	chr4:46911374-46911424	HMEC	breast:	n/a
50	chr4:46911519-46911569	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:46939236..46940006-chr4:47124315..47124979,2	MCF-7	breast:
2	chr4:46939431..46940150-chr4:47385690..47386236,2	MCF-7	breast:
3	chr4:46934053..46934623-chr4:47034246..47035079,2	MCF-7	breast:
4	chr4:46933769..46934331-chr4:47034607..47035177,2	MCF-7	breast:
5	chr4:46939173..46939796-chr4:47034401..47035276,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COX7B2-1	chr4:46921732-46924411	NONHSAT096245

Variant related genes	Relation type
COX7B2	TF binding region
COX7B2	CpG island

Extended variants
information (count: 699 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:699 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9992220	chr4:46911379-46911380	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376324957	chr4:46911417-46911418	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs139945777	chr4:46911519-46911520	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs191949334	chr4:46911520-46911521	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs572248491	chr4:46911539-46911540	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs546034479	chr4:46911541-46911542	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs145452041	chr4:46911550-46911551	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs532506308	chr4:46911570-46911571	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs184146276	chr4:46911580-46911581	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs114153598	chr4:46911583-46911584	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs560535543	chr4:46912673-46912674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs377227760	chr4:46912689-46912690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs527858271	chr4:46912709-46912710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs180939930	chr4:46912710-46912711	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs537882008	chr4:46912711-46912712	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs545679486	chr4:46912728-46912729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs189999671	chr4:46914103-46914104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs533053407	chr4:46914151-46914152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs28674021	chr4:46914987-46914988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565271947	chr4:46915626-46915627	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs192856883	chr4:46920400-46920401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150812637	chr4:46920414-46920415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576840558	chr4:46920435-46920436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543971651	chr4:46920440-46920441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555700716	chr4:46920489-46920490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567131853	chr4:46920527-46920528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573643409	chr4:46920540-46920541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575804220	chr4:46921733-46921734	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs562961783	chr4:46921826-46921827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs184689725	chr4:46921882-46921883	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs540151558	chr4:46921914-46921915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs542560820	chr4:46921934-46921935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs544543481	chr4:46921939-46921940	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs7691100	chr4:46921954-46921955	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374235440	chr4:46921955-46921956	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs528262463	chr4:46922033-46922034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs73813735	chr4:46922040-46922041	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs576942280	chr4:46922042-46922043	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs566154516	chr4:46922090-46922091	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs533484836	chr4:46922096-46922097	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs7678338	chr4:46922107-46922108	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569955813	chr4:46922220-46922221	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs537502213	chr4:46922256-46922257	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs190340812	chr4:46922279-46922280	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs192867385	chr4:46922318-46922319	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs562534986	chr4:46922327-46922328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs371474466	chr4:46922371-46922372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs34077066	chr4:46922396-46922397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs149815272	chr4:46922409-46922410	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs374410489	chr4:46922421-46922422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:46920400-46920600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:46926600-46932800	Weak transcription	Brain Anterior Caudate	brain
3	chr4:46928600-46929800	Enhancers	Fetal Heart	heart
4	chr4:46929800-46932200	Weak transcription	Fetal Heart	heart
5	chr4:46930600-46930800	Enhancers	Small Intestine	intestine
6	chr4:46931000-46932200	Weak transcription	Small Intestine	intestine
7	chr4:46931600-46932200	Active TSS	Fetal Intestine Large	intestine
8	chr4:46932000-46932200	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:46932200-46932400	Enhancers	Small Intestine	intestine
10	chr4:46932200-46933200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:46932200-46933400	Enhancers	Fetal Heart	heart
12	chr4:46932200-46933400	Weak transcription	Fetal Intestine Large	intestine
13	chr4:46932400-46933600	Weak transcription	Small Intestine	intestine
14	chr4:46933200-46934000	Enhancers	Duodenum Mucosa	Duodenum
15	chr4:46933400-46934800	Enhancers	Fetal Intestine Large	intestine
16	chr4:46933400-46935800	Weak transcription	Fetal Heart	heart
17	chr4:46933600-46933800	Enhancers	Small Intestine	intestine
18	chr4:46934800-46935600	Weak transcription	Fetal Intestine Large	intestine
19	chr4:46935000-46935800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:46935000-46937000	Enhancers	NHEK	skin
21	chr4:46935200-46937000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:46935400-46935800	Enhancers	Hela-S3	cervix
23	chr4:46935600-46936400	Enhancers	Fetal Intestine Large	intestine
24	chr4:46935600-46936400	Enhancers	Osteobl	bone
25	chr4:46935800-46936000	Enhancers	Fetal Heart	heart
26	chr4:46935800-46936200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:46936000-46936400	Weak transcription	Fetal Heart	heart
28	chr4:46936200-46936800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:46936400-46937200	Enhancers	Fetal Heart	heart
30	chr4:46936800-46937000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr4:46936800-46937200	Enhancers	HepG2	liver
32	chr4:46936800-46937400	Enhancers	Left Ventricle	heart
33	chr4:46937000-46939600	Weak transcription	NHEK	skin
34	chr4:46937200-46938000	Weak transcription	Fetal Heart	heart
35	chr4:46937400-46937800	Weak transcription	Left Ventricle	heart
36	chr4:46937800-46938600	Enhancers	Left Ventricle	heart
37	chr4:46938000-46938400	Enhancers	Fetal Heart	heart
38	chr4:46938400-46942800	Weak transcription	Fetal Heart	heart
39	chr4:46939600-46939800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:46939600-46940000	Enhancers	NHEK	skin

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