Variant report

Variant	nsv470842
Chromosome Location	chr6:93530757-93615450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:93536918-93537188	GM12878	blood:	n/a	n/a
2	BHLHE40	chr6:93536460-93536675	HepG2	liver:	n/a	n/a
3	BHLHE40	chr6:93536434-93537236	GM12878	blood:	n/a	n/a
4	BHLHE40	chr6:93536389-93537036	HepG2	liver:	n/a	n/a
5	CEBPB	chr6:93602335-93602744	MCF-7	breast:	n/a	n/a
6	CEBPB	chr6:93602342-93602708	MCF-7	breast:	n/a	n/a
7	CEBPB	chr6:93602337-93602696	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr6:93558715-93559168	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr6:93566945-93567070	MCF-7	breast:	n/a	n/a
10	CTCF	chr6:93566950-93567061	MCF-7	breast:	n/a	n/a
11	CTCF	chr6:93566820-93566970	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr6:93566940-93567090	HEK293	kidney:	n/a	n/a
13	CTCF	chr6:93536763-93537079	GM12878	blood:	n/a	n/a
14	CTCF	chr6:93592072-93592111	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr6:93566947-93567059	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:93609920-93610070	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr6:93566958-93567056	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:93567791-93567849	GM20000	blood:	n/a	n/a
19	CTCF	chr6:93574500-93574650	MCF-7	breast:	n/a	n/a
20	CTCF	chr6:93581902-93581951	Lung_OC	lung:	n/a	n/a
21	CTCF	chr6:93574520-93574670	HEK293	kidney:	n/a	n/a
22	CTCF	chr6:93603220-93603370	HRE	kidney:	n/a	n/a
23	CTCF	chr6:93566967-93567061	HepG2	liver:	n/a	n/a
24	CTCF	chr6:93574508-93574758	GM12878	blood:	n/a	n/a
25	CTCF	chr6:93592943-93592961	GM20000	blood:	n/a	n/a
26	CTCF	chr6:93610212-93610277	GM20000	blood:	n/a	n/a
27	CTCF	chr6:93613560-93613710	GM12878	blood:	n/a	n/a
28	CUX1	chr6:93550405-93550414	GM12878	blood:	n/a	n/a
29	E2F4	chr6:93563573-93563649	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr6:93574627-93574845	GM12878	blood:	n/a	chr6:93574765-93574776
31	EBF1	chr6:93568072-93568235	GM12878	blood:	n/a	n/a
32	EBF1	chr6:93536587-93537196	GM12878	blood:	n/a	n/a
33	ELF1	chr6:93574750-93575368	MCF-7	breast:	n/a	n/a
34	ELF1	chr6:93574845-93575227	MCF-7	breast:	n/a	n/a
35	EP300	chr6:93536510-93537173	GM12878	blood:	n/a	n/a
36	EP300	chr6:93607363-93607367	GM12878	blood:	n/a	n/a
37	EP300	chr6:93602212-93602615	MCF-7	breast:	n/a	chr6:93602545-93602553
38	EP300	chr6:93609799-93610437	MCF-7	breast:	n/a	n/a
39	EP300	chr6:93539928-93539957	GM12878	blood:	n/a	n/a
40	EP300	chr6:93536400-93537195	GM12878	blood:	n/a	n/a
41	EP300	chr6:93536398-93536751	HepG2	liver:	n/a	n/a
42	ESR1	chr6:93610147-93610321	T-47D	breast:	n/a	chr6:93610245-93610262
43	ESR1	chr6:93536390-93536714	ECC-1	luminal epithelium:	n/a	n/a
44	ESRRA	chr6:93536173-93537170	GM12878	blood:	n/a	n/a
45	FOS	chr6:93550094-93550314	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr6:93550148-93550290	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr6:93602387-93602711	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr6:93602381-93602678	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr6:93550147-93550365	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr6:93602386-93602700	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:93560832..93563328-chr6:93567329..93569534,2	MCF-7	breast:
2	chr6:93546886..93549029-chr6:93572049..93573948,2	MCF-7	breast:
3	chr1:149214863..149216422-chr6:93606978..93608496,2	MCF-7	breast:
4	chr6:93551951..93554374-chr6:93559339..93561453,2	MCF-7	breast:
5	chr6:93551951..93554374-chr6:93559339..93561453,2	MCF-7	breast:
6	chr6:93601515..93604044-chr6:93607166..93609313,2	MCF-7	breast:
7	chr6:93420272..93423132-chr6:93542767..93544331,2	K562	blood:
8	chr6:93603386..93605244-chr6:93608551..93610908,2	K562	blood:
9	chr6:93560832..93563328-chr6:93567329..93569534,2	MCF-7	breast:
10	chr6:93601515..93604044-chr6:93607166..93609313,2	MCF-7	breast:
11	chr6:93603386..93605244-chr6:93608551..93610908,2	K562	blood:
12	chr6:93596729..93599240-chr6:93599473..93601242,2	MCF-7	breast:
13	chr6:93546886..93549029-chr6:93572049..93573948,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPHA7-5	chr6:93596969-93597107	NONHSAT114016
2	lnc-EPHA7-5	chr6:93597512-93598299	NONHSAT114016

No data

Variant related genes	Relation type
ATF1P1	TF binding region
ENSG00000219387	chromatin interactions
ENSG00000252826	chromatin interactions

Extended variants
information (count: 1500 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1500 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9445025	chr6:93530757-93530758	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569854318	chr6:93530771-93530772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371633617	chr6:93530773-93530774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191970642	chr6:93530822-93530823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138303926	chr6:93530842-93530843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144047688	chr6:93530872-93530873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567779501	chr6:93530880-93530881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551504285	chr6:93530896-93530897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376248978	chr6:93530956-93530957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143402223	chr6:93530964-93530965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527686961	chr6:93530994-93530995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9452135	chr6:93531024-93531025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549348370	chr6:93531035-93531036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374016277	chr6:93531041-93531042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76059336	chr6:93531052-93531053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12174459	chr6:93531084-93531085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535771281	chr6:93531124-93531125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184340537	chr6:93531186-93531187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530388370	chr6:93531188-93531189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75093058	chr6:93531321-93531322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17736308	chr6:93531325-93531326	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577672646	chr6:93531358-93531359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533569527	chr6:93531367-93531368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553757697	chr6:93531374-93531375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188642304	chr6:93531397-93531398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180996572	chr6:93531417-93531418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562739743	chr6:93531439-93531440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148386043	chr6:93531440-93531441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4426973	chr6:93531443-93531444	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368843151	chr6:93531476-93531477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527648555	chr6:93531485-93531486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577190155	chr6:93531491-93531492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184389506	chr6:93531497-93531498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150890656	chr6:93531529-93531530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546953516	chr6:93531573-93531574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139192872	chr6:93531579-93531580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189072993	chr6:93531580-93531581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182457129	chr6:93531589-93531590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549309122	chr6:93531590-93531591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9452136	chr6:93531613-93531614	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538049021	chr6:93531624-93531625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145924875	chr6:93531650-93531651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80179348	chr6:93531665-93531666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553478010	chr6:93531674-93531675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187004795	chr6:93531700-93531701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374349857	chr6:93531774-93531775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568347967	chr6:93531794-93531795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139825633	chr6:93531823-93531824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576193385	chr6:93531851-93531852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375407704	chr6:93531934-93531935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93530200-93530800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr6:93530200-93531200	Enhancers	Fetal Brain Female	brain
3	chr6:93530400-93530800	Enhancers	Brain Substantia Nigra	brain
4	chr6:93530800-93532800	Enhancers	Fetal Brain Male	brain
5	chr6:93531200-93531600	Enhancers	Fetal Stomach	stomach
6	chr6:93531200-93532000	Weak transcription	Fetal Brain Female	brain
7	chr6:93532000-93532400	Enhancers	Fetal Brain Female	brain
8	chr6:93532400-93534000	Weak transcription	Fetal Brain Female	brain
9	chr6:93532800-93534000	Weak transcription	Fetal Brain Male	brain
10	chr6:93534000-93534400	Enhancers	Fetal Brain Female	brain
11	chr6:93534400-93534600	Enhancers	Fetal Brain Male	brain
12	chr6:93536000-93537400	Enhancers	HepG2	liver
13	chr6:93536200-93536800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:93542200-93542400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:93542400-93542800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:93542800-93543200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:93545600-93545800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:93545800-93549800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:93549800-93550400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:93550000-93550600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:93550400-93550800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:93550800-93553600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:93555600-93557400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr6:93555800-93556000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:93556000-93556800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:93556200-93556600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr6:93556200-93556800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
28	chr6:93556200-93556800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr6:93556200-93557200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr6:93556400-93556800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr6:93556400-93557000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr6:93556800-93557000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:93556800-93559000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:93557000-93557200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:93557200-93557600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr6:93557200-93557800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
37	chr6:93557200-93558000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr6:93557400-93557800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr6:93557400-93557800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr6:93557400-93558000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr6:93557600-93557800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr6:93557600-93558000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:93557800-93558000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr6:93557800-93558000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr6:93557800-93558400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr6:93557800-93559400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
47	chr6:93558000-93558200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:93558000-93558600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr6:93558000-93558600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr6:93558000-93558600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links