Variant report

Variant	esv2569279
Chromosome Location	chr6:88284922-88286659
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:88276178..88278517-chr6:88285720..88288387,2	K562	blood:
2	chr6:88275961..88278697-chr6:88284157..88285925,2	K562	blood:
3	chr6:88285212..88293434-chr6:88297589..88302538,14	K562	blood:
4	chr6:88268600..88271496-chr6:88285308..88287574,2	MCF-7	breast:
5	chr6:88283650..88286214-chr6:88294247..88295894,2	K562	blood:
6	chr6:88282649..88284478-chr6:88285308..88287961,2	MCF-7	breast:
7	chr6:88285921..88288874-chr6:88289679..88293937,3	MCF-7	breast:
8	chr6:88284821..88286391-chr6:88289308..88290910,2	K562	blood:
9	chr6:88282635..88286754-chr6:88286787..88288868,3	MCF-7	breast:
10	chr6:87866903..87868749-chr6:88285297..88287961,2	MCF-7	breast:
11	chr6:88182571..88184838-chr6:88283979..88286941,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146282	chromatin interactions
ENSG00000164414	chromatin interactions
ENSG00000135336	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577808740	chr6:88284937-88284938	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs137938502	chr6:88284943-88284944	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200726488	chr6:88284944-88284945	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557871074	chr6:88284947-88284948	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201110631	chr6:88284987-88284988	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375949359	chr6:88284989-88284990	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181840830	chr6:88284995-88284996	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs58168335	chr6:88284996-88284997	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557143445	chr6:88285068-88285069	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554019777	chr6:88285070-88285071	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140315063	chr6:88285137-88285138	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574089014	chr6:88285172-88285173	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114612130	chr6:88285173-88285174	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573986403	chr6:88285244-88285245	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs544587068	chr6:88285313-88285314	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs530630111	chr6:88285365-88285366	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs562692122	chr6:88285436-88285437	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs187289330	chr6:88285437-88285438	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs150369013	chr6:88285454-88285455	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs527862459	chr6:88285535-88285536	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs549444849	chr6:88285538-88285539	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs79375827	chr6:88285550-88285551	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs542666083	chr6:88285586-88285587	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs190934098	chr6:88285612-88285613	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs537489700	chr6:88285638-88285639	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs35588024	chr6:88285653-88285654	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs180868618	chr6:88285656-88285657	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs559320044	chr6:88285710-88285711	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs34259422	chr6:88285761-88285762	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs138089936	chr6:88285798-88285799	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs12524173	chr6:88285806-88285807	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs12529392	chr6:88285807-88285808	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs189938391	chr6:88285811-88285812	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs182933556	chr6:88285845-88285846	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs187271124	chr6:88285931-88285932	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs113861370	chr6:88285968-88285969	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs55999428	chr6:88286012-88286013	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs13198717	chr6:88286017-88286018	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs62417695	chr6:88286018-88286019	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs13198720	chr6:88286023-88286024	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs576285909	chr6:88286063-88286064	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs13199047	chr6:88286076-88286077	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs13198842	chr6:88286080-88286081	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs13198846	chr6:88286087-88286088	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs13198853	chr6:88286109-88286110	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs543308956	chr6:88286119-88286120	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs35762450	chr6:88286127-88286128	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs13215092	chr6:88286178-88286179	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs13199186	chr6:88286185-88286186	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs13199192	chr6:88286196-88286197	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Systemic lupus erythematosus	17503323	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
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
Follicular lymphoma	17699855	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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88217800-88295800	Weak transcription	Fetal Brain Male	brain
2	chr6:88227800-88298800	Weak transcription	Esophagus	oesophagus
3	chr6:88228400-88298400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:88228600-88285200	Weak transcription	Spleen	Spleen
5	chr6:88229600-88289000	Weak transcription	Lung	lung
6	chr6:88251000-88291400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:88256200-88297600	Weak transcription	Right Ventricle	heart
8	chr6:88256400-88295800	Weak transcription	Gastric	stomach
9	chr6:88263400-88291400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:88264600-88291000	Weak transcription	Brain Angular Gyrus	brain
11	chr6:88269600-88291400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:88271400-88288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:88271600-88288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:88271600-88288800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:88272200-88297000	Weak transcription	Brain Germinal Matrix	brain
16	chr6:88272400-88289200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:88272400-88291000	Weak transcription	Fetal Brain Female	brain
18	chr6:88272400-88296000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:88272400-88297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:88272400-88297400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:88272600-88291200	Weak transcription	HSMMtube	muscle
22	chr6:88272600-88292000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:88272800-88289800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:88272800-88291000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:88273000-88292000	Weak transcription	Colonic Mucosa	Colon
26	chr6:88273000-88296000	Weak transcription	Brain Substantia Nigra	brain
27	chr6:88273400-88290200	Weak transcription	HMEC	breast
28	chr6:88273600-88292400	Weak transcription	Hela-S3	cervix
29	chr6:88273600-88298200	Weak transcription	Fetal Kidney	kidney
30	chr6:88274000-88288800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:88274000-88288800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:88274000-88290800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:88274200-88288800	Weak transcription	NHDF-Ad	bronchial
34	chr6:88274200-88295000	Weak transcription	NHLF	lung
35	chr6:88274400-88289000	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:88274400-88292200	Weak transcription	Fetal Lung	lung
37	chr6:88274800-88298800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:88276400-88288800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:88278200-88286800	Weak transcription	Fetal Stomach	stomach
40	chr6:88278400-88285000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:88278600-88289600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:88278800-88290200	Weak transcription	Primary B cells from cord blood	blood
43	chr6:88278800-88290600	Weak transcription	HSMM	muscle
44	chr6:88278800-88297400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:88279200-88288800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:88279400-88285200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:88279400-88288800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:88279400-88289800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:88279600-88285000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:88279600-88291000	Weak transcription	Placenta	Placenta

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