Variant report

Variant	esv3350625
Chromosome Location	chr6:70459031-70461029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:70458655..70460903-chr6:70464788..70467163,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552305028	chr6:70459049-70459050	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181414286	chr6:70459062-70459063	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372567746	chr6:70459082-70459083	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547997834	chr6:70459103-70459104	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567894961	chr6:70459164-70459165	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199958945	chr6:70459165-70459166	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544323762	chr6:70459170-70459171	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577433173	chr6:70459171-70459172	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9346345	chr6:70459191-70459192	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79885422	chr6:70459222-70459223	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12214456	chr6:70459276-70459277	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148045361	chr6:70459288-70459289	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373257303	chr6:70459306-70459307	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544753210	chr6:70459315-70459316	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57591393	chr6:70459341-70459342	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73481772	chr6:70459436-70459437	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185946585	chr6:70459443-70459444	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554726230	chr6:70459511-70459512	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574518540	chr6:70459667-70459668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189187977	chr6:70459688-70459689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574823871	chr6:70459698-70459699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111069940	chr6:70459788-70459789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541349935	chr6:70459845-70459846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111154231	chr6:70459897-70459898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200475560	chr6:70459925-70459926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200634918	chr6:70459930-70459931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148638851	chr6:70459965-70459966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563391203	chr6:70459970-70459971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576819749	chr6:70459972-70459973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545807491	chr6:70459973-70459974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559527884	chr6:70459975-70459976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9342771	chr6:70459995-70459996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150091565	chr6:70460013-70460014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528176540	chr6:70460035-70460036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542550404	chr6:70460048-70460049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138428598	chr6:70460066-70460067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142754116	chr6:70460107-70460108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530192425	chr6:70460108-70460109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550108169	chr6:70460133-70460134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146973168	chr6:70460140-70460141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2502554	chr6:70460155-70460156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2881080	chr6:70460172-70460173	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538684645	chr6:70460354-70460355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528228190	chr6:70460357-70460358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552136997	chr6:70460370-70460371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565862924	chr6:70460399-70460400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534811752	chr6:70460425-70460426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76379155	chr6:70460488-70460489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374647473	chr6:70460507-70460508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369751739	chr6:70460513-70460514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	17229543	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70380800-70467800	Weak transcription	K562	blood
2	chr6:70405000-70468400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:70429000-70462400	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:70429000-70467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:70431400-70498600	Weak transcription	Ovary	ovary
6	chr6:70432000-70468200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:70432000-70470400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:70432000-70470400	Weak transcription	Gastric	stomach
9	chr6:70432000-70479800	Weak transcription	Pancreas	Pancrea
10	chr6:70432200-70480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:70432600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:70435800-70498800	Weak transcription	Adipose Nuclei	Adipose
13	chr6:70441200-70463400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:70442400-70498200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:70442400-70498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:70443000-70468000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:70444800-70461000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:70446000-70470400	Weak transcription	Psoas Muscle	Psoas
19	chr6:70447800-70498400	Weak transcription	Placenta	Placenta
20	chr6:70448400-70470600	Weak transcription	Right Ventricle	heart
21	chr6:70448800-70489800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:70450600-70472000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:70450800-70487600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:70453800-70468600	Weak transcription	Small Intestine	intestine
25	chr6:70453800-70505600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:70454800-70459800	Weak transcription	HMEC	breast
27	chr6:70455400-70459400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:70455600-70461200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:70455600-70461800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr6:70455600-70462400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr6:70455800-70459600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:70455800-70461600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:70455800-70464600	Strong transcription	Primary B cells from cord blood	blood
34	chr6:70456400-70463200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:70456400-70483000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:70456600-70460600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:70456600-70461600	Weak transcription	Brain Substantia Nigra	brain
38	chr6:70456600-70462200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:70456600-70462600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:70456600-70464400	Weak transcription	Fetal Kidney	kidney
41	chr6:70456600-70471600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:70456600-70491000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:70456800-70463600	Weak transcription	Fetal Intestine Large	intestine
44	chr6:70456800-70468000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr6:70456800-70470600	Weak transcription	Left Ventricle	heart
46	chr6:70456800-70473400	Weak transcription	Aorta	Aorta
47	chr6:70457000-70461400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:70457000-70466000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:70457000-70466600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:70457200-70459200	Weak transcription	Fetal Muscle Leg	muscle

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