Variant report

Variant	esv2763978
Chromosome Location	chr6:66370352-66426643
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	BRCA1	chr6:66378211-66378498	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr6:66378284-66378484	A549	lung:	n/a	n/a
3	CEBPB	chr6:66378133-66378823	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr6:66404594-66404863	HepG2	liver:	n/a	chr6:66404777-66404786 chr6:66404777-66404786 chr6:66404777-66404786
5	CEBPB	chr6:66404687-66404887	H1-hESC	embryonic stem cell:	n/a	chr6:66404777-66404786 chr6:66404777-66404786 chr6:66404777-66404786
6	CEBPB	chr6:66378201-66378540	MCF-7	breast:	n/a	n/a
7	CEBPB	chr6:66404649-66404900	K562	blood:	n/a	chr6:66404777-66404786 chr6:66404777-66404786 chr6:66404777-66404786
8	CEBPB	chr6:66404609-66404903	IMR90	lung:	n/a	chr6:66404777-66404786 chr6:66404777-66404786 chr6:66404777-66404786
9	CEBPB	chr6:66378100-66379021	MCF-7	breast:	n/a	n/a
10	CHD2	chr6:66378232-66378500	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr6:66410644-66410670	Lung_OC	lung:	n/a	n/a
12	CTCF	chr6:66413711-66413749	Spleen_OC	spleen:	n/a	n/a
13	E2F4	chr6:66408749-66408935	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr6:66372812-66373062	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr6:66387670-66387870	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr6:66374651-66374848	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr6:66385463-66385562	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr6:66378131-66378599	Hela-S3	cervix:	n/a	chr6:66378554-66378563
19	EP300	chr6:66381681-66382294	MCF-7	breast:	n/a	n/a
20	EP300	chr6:66377155-66377761	Hela-S3	cervix:	n/a	n/a
21	EP300	chr6:66416771-66417877	SK-N-SH	brain:	n/a	n/a
22	EP300	chr6:66416982-66417333	SK-N-SH_RA	brain:	n/a	n/a
23	FOS	chr6:66377299-66377498	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr6:66395517-66395831	MCF10A-Er-Src	breast:	n/a	chr6:66395682-66395689 chr6:66395679-66395691 chr6:66395680-66395690 chr6:66395681-66395690 chr6:66395681-66395689
25	FOS	chr6:66389290-66389457	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr6:66377279-66377457	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr6:66377261-66377599	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr6:66378237-66378484	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr6:66381906-66382098	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr6:66395537-66395830	MCF10A-Er-Src	breast:	n/a	chr6:66395682-66395689 chr6:66395679-66395691 chr6:66395680-66395690 chr6:66395681-66395690 chr6:66395681-66395689
31	FOS	chr6:66378160-66378544	MCF10A-Er-Src	breast:	n/a	chr6:66378533-66378542
32	FOS	chr6:66378242-66378532	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr6:66378222-66378569	MCF10A-Er-Src	breast:	n/a	chr6:66378533-66378542 chr6:66378556-66378563 chr6:66378555-66378563 chr6:66378555-66378563
34	FOS	chr6:66389200-66389458	MCF10A-Er-Src	breast:	n/a	n/a
35	FOXA1	chr6:66381820-66382237	T-47D	breast:	n/a	chr6:66381971-66381983
36	FOXA1	chr6:66416372-66416623	HepG2	liver:	n/a	chr6:66416405-66416417
37	FOXA1	chr6:66421704-66421924	T-47D	breast:	n/a	n/a
38	FOXA1	chr6:66381819-66382312	T-47D	breast:	n/a	chr6:66381971-66381983
39	FOXA2	chr6:66378163-66378471	A549	lung:	n/a	n/a
40	FOXA2	chr6:66381910-66382288	A549	lung:	n/a	chr6:66381971-66381983
41	FOXA2	chr6:66416409-66416701	A549	lung:	n/a	n/a
42	GATA3	chr6:66381742-66382403	MCF-7	breast:	n/a	n/a
43	GATA3	chr6:66400055-66400362	T-47D	breast:	n/a	n/a
44	GATA3	chr6:66417270-66417611	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr6:66381793-66382146	MCF-7	breast:	n/a	n/a
46	GATA3	chr6:66381726-66382198	T-47D	breast:	n/a	n/a
47	GATA3	chr6:66378036-66379191	MCF-7	breast:	n/a	chr6:66378040-66378051
48	GATA3	chr6:66381613-66382389	MCF-7	breast:	n/a	n/a
49	GATA3	chr6:66381720-66382223	T-47D	breast:	n/a	n/a
50	GATA3	chr6:66399966-66400276	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:66366176..66367861-chr6:66369902..66372494,2	K562	blood:
2	chr6:66389053..66391661-chr6:66392622..66394298,2	MCF-7	breast:
3	chr6:66389053..66391661-chr6:66392622..66394298,2	MCF-7	breast:
4	chr3:189034137..189034728-chr6:66401890..66402666,2	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: 985 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:985 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113175709	chr6:66374001-66374002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564061707	chr6:66374005-66374006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532929297	chr6:66374008-66374009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574105141	chr6:66374035-66374036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546481032	chr6:66374074-66374075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566952948	chr6:66374111-66374112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184981501	chr6:66374169-66374170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6455050	chr6:66374179-66374180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559334326	chr6:66374191-66374192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189639845	chr6:66374192-66374193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143916822	chr6:66374217-66374218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180975293	chr6:66374251-66374252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113441530	chr6:66374263-66374264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146866523	chr6:66374289-66374290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186322071	chr6:66374378-66374379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140667318	chr6:66374404-66374405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373617467	chr6:66374490-66374491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191619878	chr6:66374494-66374495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372289165	chr6:66374513-66374514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16897025	chr6:66374557-66374558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539397031	chr6:66374569-66374570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116416595	chr6:66374614-66374615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16897027	chr6:66374725-66374726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574866480	chr6:66374738-66374739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543820198	chr6:66374758-66374759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564000159	chr6:66374773-66374774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533103215	chr6:66374794-66374795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs923537	chr6:66374804-66374805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560122749	chr6:66374813-66374814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553840205	chr6:66374827-66374828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529366254	chr6:66374840-66374841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183243224	chr6:66374899-66374900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569387456	chr6:66374900-66374901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538199393	chr6:66374913-66374914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114831014	chr6:66374945-66374946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2130497	chr6:66374992-66374993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188700966	chr6:66375064-66375065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190898462	chr6:66375066-66375067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370398628	chr6:66375068-66375069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73742031	chr6:66375080-66375081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567792045	chr6:66375101-66375102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373533110	chr6:66375152-66375153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536873151	chr6:66375182-66375183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9345668	chr6:66375183-66375184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575004897	chr6:66375185-66375186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543801495	chr6:66375190-66375191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577191301	chr6:66377007-66377008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186103569	chr6:66377015-66377016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs969265	chr6:66377043-66377044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571249556	chr6:66377055-66377056	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66374000-66375200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:66377000-66379000	Enhancers	Hela-S3	cervix
3	chr6:66377200-66377600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:66377200-66378000	Enhancers	Fetal Lung	lung
5	chr6:66379000-66381600	Weak transcription	Hela-S3	cervix
6	chr6:66381400-66382000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:66381600-66382200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:66381600-66382200	Enhancers	Hela-S3	cervix
9	chr6:66381600-66383600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:66390800-66391000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:66390800-66391200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:66390800-66391800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:66391400-66392000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:66392800-66393800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:66393800-66396000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:66396000-66396200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:66396200-66396600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:66399600-66400400	Enhancers	Placenta	Placenta
19	chr6:66401800-66402200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr6:66402200-66403400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:66403600-66403800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr6:66408400-66408800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:66408800-66409200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:66409200-66412000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:66410000-66411000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:66410000-66411200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:66410400-66411000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr6:66410600-66411000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr6:66411000-66411400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr6:66411400-66412800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr6:66412800-66413600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:66413600-66413800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr6:66413800-66414000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:66413800-66414800	Enhancers	A549	lung
35	chr6:66414000-66414400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:66414400-66414800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:66414800-66415200	Weak transcription	A549	lung
38	chr6:66414800-66415400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr6:66415000-66415200	Enhancers	Fetal Intestine Small	intestine
40	chr6:66415000-66415600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:66415200-66415400	Enhancers	A549	lung
42	chr6:66415400-66416400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:66415400-66416400	Weak transcription	A549	lung
44	chr6:66415600-66416400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:66415600-66416600	Weak transcription	Fetal Intestine Small	intestine
46	chr6:66416200-66416400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:66416400-66416600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr6:66416400-66416800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:66416400-66416800	Enhancers	A549	lung
50	chr6:66416400-66417400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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