Variant report

Variant	esv2759447
Chromosome Location	chr6:78795880-79193468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:79079721..79080316-chr6:79223325..79224142,2	MCF-7	breast:
2	chr6:79037479..79040377-chr6:79044089..79045864,2	K562	blood:
3	chr6:79145754..79146269-chr6:79223569..79224247,2	MCF-7	breast:
4	chr6:78922819..78924778-chr6:78931253..78933629,2	K562	blood:
5	chr6:78966571..78967392-chr6:79036188..79036778,2	MCF-7	breast:
6	chr6:79150451..79152347-chr6:79160365..79162316,2	MCF-7	breast:
7	chr6:78871979..78874445-chr6:78875354..78878214,2	K562	blood:
8	chr6:78884216..78887143-chr6:79140755..79143140,2	K562	blood:
9	chr6:79159177..79161505-chr6:79223349..79225397,2	MCF-7	breast:
10	chr6:78966571..78967392-chr6:79036188..79036778,2	MCF-7	breast:
11	chr6:79150451..79152347-chr6:79160365..79162316,2	MCF-7	breast:
12	chr6:79037479..79040377-chr6:79044089..79045864,2	K562	blood:
13	chr6:78922819..78924778-chr6:78931253..78933629,2	K562	blood:
14	chr6:78871979..78874445-chr6:78875354..78878214,2	K562	blood:
15	chr6:78884216..78887143-chr6:79140755..79143140,2	K562	blood:

No data

Extended variants
information (count: 4377 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:4377 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552318241	chr6:78799407-78799408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141785317	chr6:78799426-78799427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537996562	chr6:78799490-78799491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558284514	chr6:78799528-78799529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576081723	chr6:78799628-78799629	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs537112001	chr6:78799636-78799637	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs548279352	chr6:78799640-78799641	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564133524	chr6:78799649-78799650	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs568175148	chr6:78799691-78799692	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs534139363	chr6:78799692-78799693	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs189995776	chr6:78799740-78799741	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571083570	chr6:78799771-78799772	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540108350	chr6:78799803-78799804	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558306384	chr6:78799816-78799817	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575196767	chr6:78799847-78799848	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182448600	chr6:78799879-78799880	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74996948	chr6:78799890-78799891	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573660179	chr6:78799968-78799969	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541381547	chr6:78799969-78799970	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574552487	chr6:78799987-78799988	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13207434	chr6:78800006-78800007	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13207435	chr6:78800008-78800009	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540456120	chr6:78800014-78800015	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560273719	chr6:78800021-78800022	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532338755	chr6:78800023-78800024	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150599437	chr6:78800037-78800038	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191545661	chr6:78800038-78800039	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184237601	chr6:78800058-78800059	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568235421	chr6:78800074-78800075	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372382988	chr6:78800076-78800077	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114243672	chr6:78800086-78800087	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375158132	chr6:78800122-78800123	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188592040	chr6:78800139-78800140	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571013665	chr6:78800164-78800165	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539794264	chr6:78800178-78800179	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111617790	chr6:78800179-78800180	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138373068	chr6:78800186-78800187	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559375953	chr6:78800215-78800216	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537857792	chr6:78800225-78800226	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577824562	chr6:78800240-78800241	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12197282	chr6:78800241-78800242	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540315513	chr6:78800242-78800243	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553725988	chr6:78800302-78800303	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576970881	chr6:78800303-78800304	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142712863	chr6:78800318-78800319	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562815813	chr6:78800360-78800361	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531473179	chr6:78800386-78800387	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147371603	chr6:78800407-78800408	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114467978	chr6:78800419-78800420	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139575879	chr6:78800423-78800424	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	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
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Cancer	21272361	CNVD
Medulloblastoma	21163964	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78799400-78799800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:78799400-78800200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:78799600-78800000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:78799600-78800600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:78799600-78800800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:78799600-78801400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:78799800-78803200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:78800200-78801000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:78800600-78802200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:78800800-78801200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:78800800-78801400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:78801000-78801200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr6:78801000-78801200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:78801000-78803600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:78801200-78801400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:78801400-78801600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:78801400-78803000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:78801400-78803400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:78802000-78802200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:78802200-78804200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:78803000-78804800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:78803200-78803400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:78803200-78803400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr6:78803200-78804000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:78803400-78803800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:78803400-78804200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:78803400-78804200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:78803400-78804600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:78803400-78804600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:78803600-78803800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr6:78803600-78804200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:78803600-78804800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:78803800-78804000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:78803800-78804200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr6:78803800-78804400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:78803800-78804400	Enhancers	Stomach Mucosa	stomach
37	chr6:78804000-78804200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr6:78804000-78804200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr6:78804000-78804600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:78804200-78804600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:78804200-78805600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:78804400-78805600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:78804600-78805000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:78804600-78805000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:78804600-78805200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr6:78805000-78805400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:78805000-78805400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:78805200-78806000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:78805600-78805800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr6:78805600-78805800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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