Variant report

Variant	esv2761015
Chromosome Location	chr6:66399482-66472665
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	chr6:66404649-66404900	K562	blood:	n/a	chr6:66404777-66404786 chr6:66404777-66404786 chr6:66404777-66404786
2	CEBPB	chr6:66439123-66439443	HepG2	liver:	n/a	chr6:66439271-66439280 chr6:66439269-66439282 chr6:66439269-66439280
3	CEBPB	chr6:66404594-66404863	HepG2	liver:	n/a	chr6:66404777-66404786 chr6:66404777-66404786 chr6:66404777-66404786
4	CEBPB	chr6:66404687-66404887	H1-hESC	embryonic stem cell:	n/a	chr6:66404777-66404786 chr6:66404777-66404786 chr6:66404777-66404786
5	CEBPB	chr6:66404609-66404903	IMR90	lung:	n/a	chr6:66404777-66404786 chr6:66404777-66404786 chr6:66404777-66404786
6	CTCF	chr6:66458285-66458323	GM10248	blood:	n/a	n/a
7	CTCF	chr6:66456360-66456448	MCF-7	breast:	n/a	n/a
8	CTCF	chr6:66454700-66454850	GM12869	blood:	n/a	n/a
9	CTCF	chr6:66456367-66456400	MCF-7	breast:	n/a	n/a
10	CTCF	chr6:66456316-66456385	Fibrobl	skin:	n/a	n/a
11	CTCF	chr6:66456383-66456463	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:66410644-66410670	Lung_OC	lung:	n/a	n/a
13	CTCF	chr6:66457784-66457814	GM13976	blood:	n/a	n/a
14	CTCF	chr6:66413711-66413749	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr6:66456418-66456456	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F4	chr6:66408749-66408935	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr6:66440655-66440816	MCF10A-Er-Src	breast:	n/a	n/a
18	EGR1	chr6:66470174-66470509	H1-hESC	embryonic stem cell:	n/a	chr6:66470408-66470418 chr6:66470406-66470419 chr6:66470408-66470418 chr6:66470406-66470420 chr6:66470407-66470418
19	EGR1	chr6:66470285-66470587	ECC-1	luminal epithelium:	n/a	chr6:66470408-66470418 chr6:66470406-66470419 chr6:66470408-66470418 chr6:66470406-66470420 chr6:66470407-66470418
20	EGR1	chr6:66470213-66470633	MCF-7	breast:	n/a	chr6:66470408-66470418 chr6:66470406-66470419 chr6:66470408-66470418 chr6:66470406-66470420 chr6:66470407-66470418
21	EP300	chr6:66416982-66417333	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr6:66416771-66417877	SK-N-SH	brain:	n/a	n/a
23	ESR1	chr6:66470428-66470648	ECC-1	luminal epithelium:	n/a	n/a
24	FOS	chr6:66470157-66470555	MCF10A-Er-Src	breast:	n/a	chr6:66470363-66470372 chr6:66470364-66470371 chr6:66470362-66470371 chr6:66470361-66470373 chr6:66470362-66470372
25	FOS	chr6:66470182-66470541	MCF10A-Er-Src	breast:	n/a	chr6:66470363-66470372 chr6:66470364-66470371 chr6:66470362-66470371 chr6:66470361-66470373 chr6:66470362-66470372
26	FOS	chr6:66445352-66445653	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr6:66445346-66445655	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr6:66470192-66470557	MCF10A-Er-Src	breast:	n/a	chr6:66470363-66470372 chr6:66470364-66470371 chr6:66470362-66470371 chr6:66470361-66470373 chr6:66470362-66470372
29	FOS	chr6:66470158-66470558	MCF10A-Er-Src	breast:	n/a	chr6:66470363-66470372 chr6:66470364-66470371 chr6:66470362-66470371 chr6:66470361-66470373 chr6:66470362-66470372
30	FOSL2	chr6:66470156-66470587	MCF-7	breast:	n/a	chr6:66470363-66470372 chr6:66470364-66470371 chr6:66470362-66470371 chr6:66470361-66470373 chr6:66470362-66470372
31	FOSL2	chr6:66470216-66470478	HepG2	liver:	n/a	chr6:66470363-66470372 chr6:66470364-66470371 chr6:66470362-66470371 chr6:66470361-66470373 chr6:66470362-66470372
32	FOXA1	chr6:66421704-66421924	T-47D	breast:	n/a	n/a
33	FOXA1	chr6:66416372-66416623	HepG2	liver:	n/a	chr6:66416405-66416417
34	FOXA2	chr6:66416409-66416701	A549	lung:	n/a	n/a
35	GATA3	chr6:66417270-66417611	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr6:66400055-66400362	T-47D	breast:	n/a	n/a
37	GATA3	chr6:66448974-66449174	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr6:66399966-66400276	T-47D	breast:	n/a	n/a
39	IRF1	chr6:66410728-66410812	K562	blood:	n/a	n/a
40	JUN	chr6:66470248-66470513	H1-hESC	embryonic stem cell:	n/a	chr6:66470363-66470372 chr6:66470364-66470371 chr6:66470362-66470371 chr6:66470361-66470373 chr6:66470362-66470372
41	JUN	chr6:66470233-66470469	HepG2	liver:	n/a	chr6:66470363-66470372 chr6:66470364-66470371 chr6:66470362-66470371 chr6:66470361-66470373 chr6:66470362-66470372
42	JUND	chr6:66448997-66449265	HepG2	liver:	n/a	n/a
43	JUND	chr6:66470180-66470585	Hela-S3	cervix:	n/a	chr6:66470363-66470372 chr6:66470364-66470371 chr6:66470362-66470371 chr6:66470361-66470372 chr6:66470361-66470373 chr6:66470362-66470372
44	JUND	chr6:66470185-66470547	HepG2	liver:	n/a	chr6:66470363-66470372 chr6:66470364-66470371 chr6:66470362-66470371 chr6:66470361-66470372 chr6:66470361-66470373 chr6:66470362-66470372
45	JUND	chr6:66470205-66470534	H1-hESC	embryonic stem cell:	n/a	chr6:66470363-66470372 chr6:66470364-66470371 chr6:66470362-66470371 chr6:66470361-66470372 chr6:66470361-66470373 chr6:66470362-66470372
46	JUND	chr6:66471212-66471249	HepG2	liver:	n/a	n/a
47	MAFF	chr6:66412135-66412204	HepG2	liver:	n/a	n/a
48	MAFF	chr6:66421433-66421809	HepG2	liver:	n/a	chr6:66421607-66421625
49	MAFF	chr6:66421445-66421784	K562	blood:	n/a	chr6:66421607-66421625
50	MAFF	chr6:66434467-66434558	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:189034137..189034728-chr6:66401890..66402666,2	MCF-7	breast:
2	chr6:66470336..66472055-chr6:66477425..66479118,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGSN-7	chr6:66417028-66417107	NONHSAT113373

Variant related genes	Relation type
EYS	TF binding region

Extended variants
information (count: 653 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:653 , 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	rs576874798	chr6:66399623-66399624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141914960	chr6:66399647-66399648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113936143	chr6:66399661-66399662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181333726	chr6:66399669-66399670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553786790	chr6:66399685-66399686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546690166	chr6:66399693-66399694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9453366	chr6:66399710-66399711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559862931	chr6:66399735-66399736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138109199	chr6:66399791-66399792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549256496	chr6:66399825-66399826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565994534	chr6:66399827-66399828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185992456	chr6:66399834-66399835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6902244	chr6:66399845-66399846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571437602	chr6:66399862-66399863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534009741	chr6:66399863-66399864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188990921	chr6:66399867-66399868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149532722	chr6:66399884-66399885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536289110	chr6:66399896-66399897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6923019	chr6:66399897-66399898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140478156	chr6:66399898-66399899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182124596	chr6:66399901-66399902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558849178	chr6:66399924-66399925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572620765	chr6:66399944-66399945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369783064	chr6:66399978-66399979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539898993	chr6:66399982-66399983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560200730	chr6:66399995-66399996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528871124	chr6:66400009-66400010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144324066	chr6:66400068-66400069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562758455	chr6:66400118-66400119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555625597	chr6:66400125-66400126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545793978	chr6:66400214-66400215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187154692	chr6:66400241-66400242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551724506	chr6:66400278-66400279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571308178	chr6:66400284-66400285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527490968	chr6:66400296-66400297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139461452	chr6:66400312-66400313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113600627	chr6:66400348-66400349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534416576	chr6:66401811-66401812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538239307	chr6:66401813-66401814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558492829	chr6:66401842-66401843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139598224	chr6:66401889-66401890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375969312	chr6:66401903-66401904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573820438	chr6:66401982-66401983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534751220	chr6:66402110-66402111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149900232	chr6:66402117-66402118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143886106	chr6:66402123-66402124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73437919	chr6:66402128-66402129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116897828	chr6:66402129-66402130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114372552	chr6:66402171-66402172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552959469	chr6:66402189-66402190	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66399600-66400400	Enhancers	Placenta	Placenta
2	chr6:66401800-66402200	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr6:66402200-66403400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:66403600-66403800	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr6:66408400-66408800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:66408800-66409200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:66409200-66412000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:66410000-66411000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:66410000-66411200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:66410400-66411000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr6:66410600-66411000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:66411000-66411400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:66411400-66412800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr6:66412800-66413600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:66413600-66413800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:66413800-66414000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:66413800-66414800	Enhancers	A549	lung
18	chr6:66414000-66414400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr6:66414400-66414800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:66414800-66415200	Weak transcription	A549	lung
21	chr6:66414800-66415400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr6:66415000-66415200	Enhancers	Fetal Intestine Small	intestine
23	chr6:66415000-66415600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:66415200-66415400	Enhancers	A549	lung
25	chr6:66415400-66416400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:66415400-66416400	Weak transcription	A549	lung
27	chr6:66415600-66416400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:66415600-66416600	Weak transcription	Fetal Intestine Small	intestine
29	chr6:66416200-66416400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:66416400-66416600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr6:66416400-66416800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:66416400-66416800	Enhancers	A549	lung
33	chr6:66416400-66417400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:66416400-66418400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:66416600-66417000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr6:66416600-66417200	Enhancers	Fetal Intestine Small	intestine
37	chr6:66416800-66418400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:66417000-66417200	Enhancers	Fetal Brain Male	brain
39	chr6:66417000-66417400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:66417000-66417400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:66417000-66417400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:66417000-66417400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr6:66417000-66417600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr6:66417000-66417800	Enhancers	Fetal Brain Female	brain
45	chr6:66417200-66418200	Weak transcription	Fetal Brain Male	brain
46	chr6:66417600-66418200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:66418200-66418600	Enhancers	Fetal Brain Male	brain
48	chr6:66418800-66419000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr6:66438600-66439000	Enhancers	Fetal Intestine Large	intestine
50	chr6:66438600-66439400	Enhancers	Rectal Mucosa Donor 31	rectum

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