Variant report

Variant	esv2759457
Chromosome Location	chr6:93577417-93671674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:203)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:203 , 50 per page) page: 1 2 3 4 5

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	chr6:93602337-93602696	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr6:93602342-93602708	MCF-7	breast:	n/a	n/a
4	CEBPB	chr6:93632194-93632469	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr6:93632128-93632508	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr6:93627658-93628171	MCF-7	breast:	n/a	n/a
7	CEBPB	chr6:93627776-93628121	MCF-7	breast:	n/a	n/a
8	CEBPB	chr6:93632164-93632504	MCF-7	breast:	n/a	n/a
9	CEBPB	chr6:93617868-93618085	HepG2	liver:	n/a	chr6:93617963-93617974 chr6:93617963-93617976 chr6:93617964-93617975
10	CTCF	chr6:93603220-93603370	HRE	kidney:	n/a	n/a
11	CTCF	chr6:93610212-93610277	GM20000	blood:	n/a	n/a
12	CTCF	chr6:93592943-93592961	GM20000	blood:	n/a	n/a
13	CTCF	chr6:93662723-93662736	GM10266	blood:	n/a	n/a
14	CTCF	chr6:93613560-93613710	GM12878	blood:	n/a	n/a
15	CTCF	chr6:93592072-93592111	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr6:93581902-93581951	Lung_OC	lung:	n/a	n/a
17	CTCF	chr6:93665667-93665728	GM13976	blood:	n/a	n/a
18	CTCF	chr6:93609920-93610070	HPAF	blood vessel:	n/a	n/a
19	E2F4	chr6:93638649-93638796	MCF10A-Er-Src	breast:	n/a	n/a
20	ELF1	chr6:93627756-93628203	MCF-7	breast:	n/a	n/a
21	EP300	chr6:93609799-93610437	MCF-7	breast:	n/a	n/a
22	EP300	chr6:93627827-93628311	MCF-7	breast:	n/a	n/a
23	EP300	chr6:93607363-93607367	GM12878	blood:	n/a	n/a
24	EP300	chr6:93602212-93602615	MCF-7	breast:	n/a	chr6:93602545-93602553
25	EP300	chr6:93652053-93652651	MCF-7	breast:	n/a	n/a
26	EP300	chr6:93627843-93628310	MCF-7	breast:	n/a	n/a
27	ESR1	chr6:93652287-93652620	T-47D	breast:	n/a	n/a
28	ESR1	chr6:93610147-93610321	T-47D	breast:	n/a	chr6:93610245-93610262
29	FOS	chr6:93602387-93602711	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr6:93632246-93632446	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr6:93602381-93602678	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr6:93602386-93602700	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr6:93652435-93652542	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr6:93630975-93631139	MCF10A-Er-Src	breast:	n/a	chr6:93631013-93631023
35	FOS	chr6:93632271-93632366	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:93652368-93652565	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr6:93649351-93649589	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:93652487-93652514	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr6:93655540-93655865	MCF10A-Er-Src	breast:	n/a	chr6:93655668-93655677
40	FOS	chr6:93655629-93655768	MCF10A-Er-Src	breast:	n/a	chr6:93655668-93655677
41	FOS	chr6:93655481-93655827	MCF10A-Er-Src	breast:	n/a	chr6:93655668-93655677
42	FOS	chr6:93602396-93602669	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr6:93655200-93655974	HUVEC	blood vessel:	n/a	chr6:93655668-93655677
44	FOS	chr6:93652475-93652502	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr6:93630942-93631104	MCF10A-Er-Src	breast:	n/a	chr6:93631013-93631023
46	FOSL2	chr6:93652188-93652727	MCF-7	breast:	n/a	n/a
47	FOSL2	chr6:93627764-93628323	MCF-7	breast:	n/a	n/a
48	FOSL2	chr6:93627697-93628321	MCF-7	breast:	n/a	n/a
49	FOSL2	chr6:93652204-93652759	MCF-7	breast:	n/a	n/a
50	FOXA1	chr6:93652283-93652566	T-47D	breast:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:93601515..93604044-chr6:93607166..93609313,2	MCF-7	breast:
2	chr6:93649981..93651643-chr6:93653121..93655036,2	MCF-7	breast:
3	chr6:93631203..93633169-chr6:93639200..93642149,2	MCF-7	breast:
4	chr6:93601515..93604044-chr6:93607166..93609313,2	MCF-7	breast:
5	chr6:93603386..93605244-chr6:93608551..93610908,2	K562	blood:
6	chr6:93652357..93654023-chr6:93654782..93656970,2	K562	blood:
7	chr6:93649981..93651643-chr6:93653121..93655036,2	MCF-7	breast:
8	chr1:149214863..149216422-chr6:93606978..93608496,2	MCF-7	breast:
9	chr6:93626953..93629918-chr6:93651700..93654036,3	MCF-7	breast:
10	chr6:93631203..93633169-chr6:93639200..93642149,2	MCF-7	breast:
11	chr6:93652357..93654023-chr6:93654782..93656970,2	K562	blood:
12	chr6:93626953..93629918-chr6:93651700..93654036,3	MCF-7	breast:
13	chr6:93596729..93599240-chr6:93599473..93601242,2	MCF-7	breast:
14	chr6:93603386..93605244-chr6:93608551..93610908,2	K562	blood:
15	chr1:149214052..149216360-chr6:93619733..93621233,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 1206 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1206 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368092241	chr6:93589209-93589210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs546306545	chr6:93589211-93589212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs566094188	chr6:93589261-93589262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535087166	chr6:93589284-93589285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs145091716	chr6:93589309-93589310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547240058	chr6:93589319-93589320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75628484	chr6:93589341-93589342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs76173091	chr6:93589411-93589412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs578226388	chr6:93589417-93589418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs9452152	chr6:93589458-93589459	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570680330	chr6:93589469-93589470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs9360001	chr6:93589500-93589501	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574079367	chr6:93589504-93589505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563777222	chr6:93589516-93589517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543048847	chr6:93589584-93589585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs34625918	chr6:93589587-93589588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs2506951	chr6:93589596-93589597	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575523952	chr6:93589604-93589605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544202185	chr6:93589629-93589630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185724513	chr6:93589639-93589640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190580087	chr6:93589671-93589672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376632020	chr6:93589693-93589694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546245135	chr6:93589709-93589710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141159070	chr6:93589711-93589712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558652556	chr6:93589720-93589721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12530450	chr6:93589729-93589730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs13206384	chr6:93589751-93589752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146726949	chr6:93589821-93589822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568779821	chr6:93589847-93589848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547702394	chr6:93589856-93589857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141283944	chr6:93589941-93589942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564213902	chr6:93590071-93590072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571822541	chr6:93590076-93590077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534441414	chr6:93590078-93590079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9353958	chr6:93590092-93590093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181634184	chr6:93590117-93590118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148333964	chr6:93590126-93590127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141375428	chr6:93590137-93590138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13217671	chr6:93590180-93590181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556494668	chr6:93590216-93590217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185954421	chr6:93590221-93590222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544456225	chr6:93590228-93590229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575024747	chr6:93590238-93590239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188806539	chr6:93590251-93590252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577415671	chr6:93590257-93590258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540068544	chr6:93590272-93590273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535150734	chr6:93590290-93590291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34947119	chr6:93590301-93590302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559792599	chr6:93590320-93590321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181233330	chr6:93590321-93590322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93589200-93589600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:93589600-93600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:93600000-93601000	ZNF genes & repeats	Lung	lung
4	chr6:93600200-93600600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:93600200-93601000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:93602200-93603600	Enhancers	Fetal Brain Male	brain
7	chr6:93602200-93603800	Enhancers	Fetal Brain Female	brain
8	chr6:93603600-93604600	Weak transcription	Fetal Brain Male	brain
9	chr6:93605200-93605400	Enhancers	Fetal Brain Male	brain
10	chr6:93605200-93605600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:93605200-93605800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:93615800-93617200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:93616200-93616400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:93616200-93617000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:93616200-93617400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:93616600-93617000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:93617000-93617400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr6:93617200-93617400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:93618000-93618200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:93625400-93626400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr6:93625600-93626000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:93625600-93626400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:93625600-93626400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:93625600-93626600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:93625800-93626200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr6:93625800-93626400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:93625800-93626400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:93626600-93631800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:93631800-93632600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:93632000-93632400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:93632000-93632400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:93632000-93632600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:93644000-93644600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:93652200-93652600	Enhancers	Fetal Stomach	stomach
35	chr6:93652400-93655200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:93652600-93653000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:93653800-93654200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:93654200-93655600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:93655200-93656200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:93655600-93656000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:93655600-93656000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:93656200-93656400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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