Variant report

Variant	nsv463961
Chromosome Location	chr6:93543278-93607693
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	CEBPB	chr6:93602335-93602744	MCF-7	breast:	n/a	n/a
2	CEBPB	chr6:93602342-93602708	MCF-7	breast:	n/a	n/a
3	CEBPB	chr6:93602337-93602696	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr6:93558715-93559168	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr6:93566820-93566970	HA-sp	spinal cord:	n/a	n/a
6	CTCF	chr6:93574500-93574650	MCF-7	breast:	n/a	n/a
7	CTCF	chr6:93574508-93574758	GM12878	blood:	n/a	n/a
8	CTCF	chr6:93592072-93592111	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr6:93567791-93567849	GM20000	blood:	n/a	n/a
10	CTCF	chr6:93566940-93567090	HEK293	kidney:	n/a	n/a
11	CTCF	chr6:93581902-93581951	Lung_OC	lung:	n/a	n/a
12	CTCF	chr6:93566967-93567061	HepG2	liver:	n/a	n/a
13	CTCF	chr6:93566945-93567070	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:93566950-93567061	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:93574520-93574670	HEK293	kidney:	n/a	n/a
16	CTCF	chr6:93603220-93603370	HRE	kidney:	n/a	n/a
17	CTCF	chr6:93566958-93567056	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:93592943-93592961	GM20000	blood:	n/a	n/a
19	CTCF	chr6:93566947-93567059	MCF-7	breast:	n/a	n/a
20	CUX1	chr6:93550405-93550414	GM12878	blood:	n/a	n/a
21	E2F4	chr6:93563573-93563649	MCF10A-Er-Src	breast:	n/a	n/a
22	EBF1	chr6:93574627-93574845	GM12878	blood:	n/a	chr6:93574765-93574776
23	EBF1	chr6:93568072-93568235	GM12878	blood:	n/a	n/a
24	ELF1	chr6:93574845-93575227	MCF-7	breast:	n/a	n/a
25	ELF1	chr6:93574750-93575368	MCF-7	breast:	n/a	n/a
26	EP300	chr6:93607363-93607367	GM12878	blood:	n/a	n/a
27	EP300	chr6:93602212-93602615	MCF-7	breast:	n/a	chr6:93602545-93602553
28	FOS	chr6:93602396-93602669	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr6:93550148-93550290	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr6:93550094-93550314	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr6:93602386-93602700	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr6:93550147-93550365	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr6:93602387-93602711	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr6:93602381-93602678	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr6:93550146-93550346	MCF10A-Er-Src	breast:	n/a	n/a
36	FOXA1	chr6:93574908-93575175	T-47D	breast:	n/a	n/a
37	FOXA2	chr6:93579205-93579592	A549	lung:	n/a	n/a
38	GATA3	chr6:93602208-93602650	MCF-7	breast:	n/a	n/a
39	GATA3	chr6:93602091-93602734	MCF-7	breast:	n/a	n/a
40	GATA3	chr6:93574701-93575362	MCF-7	breast:	n/a	chr6:93575251-93575260
41	JUN	chr6:93587185-93587366	K562	blood:	n/a	n/a
42	JUND	chr6:93550046-93550351	HepG2	liver:	n/a	chr6:93550206-93550217
43	KAP1	chr6:93599512-93599851	HEK293	kidney:	n/a	n/a
44	KAP1	chr6:93574379-93574474	U2OS	brain:	n/a	n/a
45	MAFF	chr6:93564324-93564546	HepG2	liver:	n/a	n/a
46	MAFK	chr6:93564311-93564606	HepG2	liver:	n/a	chr6:93564448-93564462 chr6:93564449-93564465 chr6:93564450-93564461 chr6:93564449-93564460 chr6:93564449-93564464 chr6:93564449-93564460 chr6:93564450-93564461
47	MAFK	chr6:93558809-93559054	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAFK	chr6:93564292-93564612	IMR90	lung:	n/a	chr6:93564448-93564462 chr6:93564449-93564465 chr6:93564450-93564461 chr6:93564449-93564460 chr6:93564449-93564464 chr6:93564449-93564460 chr6:93564450-93564461
49	MAFK	chr6:93564363-93564609	HepG2	liver:	n/a	chr6:93564448-93564462 chr6:93564449-93564465 chr6:93564450-93564461 chr6:93564449-93564460 chr6:93564449-93564464 chr6:93564449-93564460 chr6:93564450-93564461
50	MAFK	chr6:93557772-93558268	H1-hESC	embryonic stem cell:	n/a	n/a

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

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

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

Extended variants
information (count: 1199 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1199 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73754386	chr6:93545617-93545618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186556412	chr6:93545625-93545626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554271997	chr6:93545653-93545654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574496002	chr6:93545677-93545678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191907840	chr6:93545686-93545687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563304146	chr6:93545687-93545688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536484972	chr6:93545691-93545692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6919358	chr6:93545700-93545701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377338048	chr6:93545717-93545718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573578946	chr6:93545745-93545746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182081092	chr6:93545748-93545749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559975094	chr6:93545761-93545762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528728406	chr6:93545777-93545778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186852044	chr6:93545778-93545779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545685119	chr6:93545786-93545787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79490762	chr6:93545824-93545825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374344336	chr6:93545852-93545853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376689612	chr6:93545853-93545854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111393228	chr6:93545856-93545857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369685193	chr6:93545857-93545858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531045890	chr6:93545950-93545951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550655548	chr6:93545972-93545973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562475676	chr6:93545990-93545991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575738581	chr6:93545991-93545992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191688683	chr6:93546025-93546026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538536780	chr6:93546070-93546071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552087846	chr6:93546092-93546093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182558689	chr6:93546115-93546116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534482224	chr6:93546130-93546131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35938226	chr6:93546138-93546139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7760258	chr6:93546150-93546151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531400392	chr6:93546199-93546200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537150605	chr6:93546215-93546216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558517052	chr6:93546223-93546224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371950699	chr6:93546233-93546234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150900455	chr6:93546246-93546247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73754387	chr6:93546251-93546252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561267384	chr6:93546256-93546257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573596605	chr6:93546396-93546397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530209438	chr6:93546400-93546401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562313369	chr6:93546405-93546406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113090284	chr6:93546470-93546471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186836448	chr6:93546471-93546472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202100679	chr6:93546506-93546507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533144599	chr6:93546520-93546521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374098827	chr6:93546522-93546523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372348370	chr6:93546557-93546558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150033451	chr6:93546564-93546565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541968457	chr6:93546576-93546577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542460288	chr6:93546581-93546582	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93545600-93545800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:93545800-93549800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:93549800-93550400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:93550000-93550600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:93550400-93550800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:93550800-93553600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:93555600-93557400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr6:93555800-93556000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:93556000-93556800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:93556200-93556600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr6:93556200-93556800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr6:93556200-93556800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr6:93556200-93557200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr6:93556400-93556800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr6:93556400-93557000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr6:93556800-93557000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:93556800-93559000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:93557000-93557200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:93557200-93557600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:93557200-93557800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr6:93557200-93558000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:93557400-93557800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:93557400-93557800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr6:93557400-93558000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr6:93557600-93557800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr6:93557600-93558000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:93557800-93558000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr6:93557800-93558000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr6:93557800-93558400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr6:93557800-93559400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr6:93558000-93558200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:93558000-93558600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr6:93558000-93558600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
34	chr6:93558000-93558600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr6:93558000-93558600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:93558000-93558800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr6:93558000-93559200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr6:93558000-93559400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:93558200-93558600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr6:93558200-93558600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:93558200-93559000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
42	chr6:93558400-93558600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
43	chr6:93558600-93559800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr6:93558600-93560000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
45	chr6:93558600-93560000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr6:93558600-93560800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr6:93558800-93559000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr6:93558800-93559400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:93559000-93559200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr6:93559000-93560200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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