Variant report

Variant	esv2752763
Chromosome Location	chr6:87981595-88001064
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:87986550..87987553-chr6:88100764..88101655,3	MCF-7	breast:
2	chr6:87984045..87985714-chr6:87988958..87991422,2	K562	blood:
3	chr6:87985739..87987305-chr6:87991090..87992694,2	K562	blood:
4	chr6:87985739..87987305-chr6:87991090..87992694,2	K562	blood:
5	chr6:87993480..87996037-chr6:87999003..88001401,2	MCF-7	breast:
6	chr6:87984045..87985714-chr6:87988958..87991422,2	K562	blood:
7	chr6:87993480..87996037-chr6:87999003..88001401,2	MCF-7	breast:
8	chr6:87994549..87997520-chr6:88181031..88183861,2	K562	blood:
9	chr6:87776028..87776917-chr6:87986601..87987931,4	MCF-7	breast:
10	chr6:87986694..87987229-chr6:88100802..88101326,2	K562	blood:
11	chr6:87987743..87990741-chr6:87991579..87994871,3	K562	blood:
12	chr6:87987743..87990741-chr6:87991579..87994871,3	K562	blood:
13	chr6:87982117..87985714-chr6:87986469..87990458,4	K562	blood:
14	chr6:87998545..88000520-chr6:88004269..88006989,2	K562	blood:
15	chr6:87986417..87988230-chr6:88100349..88101834,13	MCF-7	breast:
16	chr6:87982117..87985714-chr6:87986469..87990458,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164414	chromatin interactions

Extended variants
information (count: 709 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:709 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9450647	chr6:87981595-87981596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150693430	chr6:87981605-87981606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548496484	chr6:87981616-87981617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190517027	chr6:87981617-87981618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139397310	chr6:87981650-87981651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537306987	chr6:87981671-87981672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375653899	chr6:87981701-87981702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6932490	chr6:87981724-87981725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576404546	chr6:87981811-87981812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534436584	chr6:87981816-87981817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181847794	chr6:87981830-87981831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185495369	chr6:87981890-87981891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189809646	chr6:87981893-87981894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147360744	chr6:87981920-87981921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552295492	chr6:87981970-87981971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575618543	chr6:87982017-87982018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546072538	chr6:87982019-87982020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139532915	chr6:87982028-87982029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532513659	chr6:87982108-87982109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181307376	chr6:87982168-87982169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552665783	chr6:87982191-87982192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559846821	chr6:87982199-87982200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6937874	chr6:87982290-87982291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs186166685	chr6:87982297-87982298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544685951	chr6:87982305-87982306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569871171	chr6:87982317-87982318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16878856	chr6:87982337-87982338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs71572748	chr6:87982366-87982367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149909763	chr6:87982492-87982493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570796989	chr6:87982497-87982498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556100592	chr6:87982506-87982507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534639474	chr6:87982541-87982542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530614525	chr6:87982649-87982650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191969670	chr6:87982654-87982655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116432575	chr6:87982684-87982685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115791811	chr6:87982734-87982735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368489898	chr6:87982737-87982738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557195854	chr6:87982862-87982863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183305411	chr6:87982886-87982887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188605372	chr6:87982909-87982910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148667513	chr6:87982912-87982913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28576237	chr6:87982941-87982942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377242125	chr6:87982989-87982990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73754164	chr6:87982992-87982993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs4707357	chr6:87982996-87982997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs117684300	chr6:87983024-87983025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142195301	chr6:87983038-87983039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191007990	chr6:87983055-87983056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78188843	chr6:87983058-87983059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs16878863	chr6:87983065-87983066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:108)

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
Esophageal squamous carcinoma	18350619	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
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87966400-87989200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:87967600-87983000	Weak transcription	Esophagus	oesophagus
3	chr6:87967800-87989000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:87968200-87991200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:87968400-87984400	Weak transcription	NHDF-Ad	bronchial
6	chr6:87968600-87984200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:87969800-87981800	Weak transcription	Primary T cells from cord blood	blood
8	chr6:87970000-87984600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:87970200-87984600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:87970400-87984400	Weak transcription	NH-A	brain
11	chr6:87970600-87983400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:87970600-87984200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:87970600-87988800	Weak transcription	Fetal Thymus	thymus
14	chr6:87970600-87994800	Weak transcription	Fetal Brain Female	brain
15	chr6:87971200-87985800	Weak transcription	Brain Germinal Matrix	brain
16	chr6:87975000-87984200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:87975200-87982200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:87983400-87984800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:87983800-87984400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:87984200-87984800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:87984200-87984800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:87984200-87984800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:87984200-87984800	Enhancers	Right Atrium	heart
24	chr6:87984200-87984800	Enhancers	Osteobl	bone
25	chr6:87984200-87985000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:87984400-87984800	Enhancers	NH-A	brain
27	chr6:87984400-87984800	Enhancers	NHDF-Ad	bronchial
28	chr6:87984400-87984800	Enhancers	NHLF	lung
29	chr6:87984400-87985000	Enhancers	Colon Smooth Muscle	Colon
30	chr6:87984400-87985600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:87984600-87984800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:87984600-87985000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:87984600-87985200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:87985000-87986000	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:87985600-87986400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr6:87986000-87986400	Enhancers	Colon Smooth Muscle	Colon
37	chr6:87986000-87987000	Enhancers	Stomach Mucosa	stomach
38	chr6:87988400-87990200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:87988400-87990400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:87988600-87990200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:87988800-87989200	Enhancers	Fetal Thymus	thymus
42	chr6:87988800-87989400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr6:87988800-87990200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:87989000-87989400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr6:87989000-87989800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr6:87989200-87990400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr6:87991000-87991400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:87991200-87991600	Enhancers	Right Atrium	heart
49	chr6:87991200-87991800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:87991400-87993400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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