Variant report

Variant	esv999346
Chromosome Location	chr6:70428857-70442646
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:70442247..70443134-chr6:70545229..70546162,3	MCF-7	breast:
2	chr6:70442277..70442790-chr6:70817841..70818470,2	MCF-7	breast:
3	chr6:69942573..69943393-chr6:70429183..70430102,2	MCF-7	breast:
4	chr6:69685059..69685616-chr6:70439397..70440382,2	MCF-7	breast:
5	chr6:70442443..70443297-chr6:70577923..70578629,3	MCF-7	breast:
6	chr6:70435929..70438657-chr6:70440659..70443018,2	K562	blood:
7	chr6:70442429..70443149-chr6:70876304..70876912,2	K562	blood:
8	chr6:70435929..70438657-chr6:70440659..70443018,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135298	chromatin interactions

Extended variants
information (count: 470 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529198629	chr6:70428860-70428861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144613240	chr6:70428861-70428862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549001067	chr6:70428865-70428866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199959642	chr6:70428889-70428890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200739785	chr6:70428897-70428898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112659556	chr6:70428898-70428899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376076271	chr6:70428906-70428907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200207509	chr6:70428910-70428911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370829456	chr6:70428916-70428917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376081191	chr6:70428922-70428923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368652434	chr6:70428931-70428932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532480668	chr6:70428997-70428998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113607622	chr6:70429003-70429004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571298928	chr6:70429060-70429061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539682388	chr6:70429085-70429086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78410214	chr6:70429088-70429089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530713254	chr6:70429143-70429144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139938700	chr6:70429144-70429145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545831706	chr6:70429162-70429163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555354467	chr6:70429165-70429166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144935291	chr6:70429177-70429178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538214674	chr6:70429195-70429196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147561241	chr6:70429253-70429254	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200893083	chr6:70429269-70429270	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540478758	chr6:70429340-70429341	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560341646	chr6:70429406-70429407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188486984	chr6:70429409-70429410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192924944	chr6:70429580-70429581	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537211818	chr6:70429641-70429642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542910777	chr6:70429697-70429698	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185457893	chr6:70429705-70429706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs114972140	chr6:70429728-70429729	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74509347	chr6:70429775-70429776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs9294849	chr6:70429837-70429838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376548358	chr6:70429838-70429839	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187135666	chr6:70429848-70429849	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546796362	chr6:70429912-70429913	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141987499	chr6:70429958-70429959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535766445	chr6:70429970-70429971	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs2061310	chr6:70429991-70429992	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs144289727	chr6:70430034-70430035	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201490844	chr6:70430066-70430067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537893647	chr6:70430159-70430160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577555773	chr6:70430168-70430169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116450661	chr6:70430230-70430231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577845574	chr6:70430280-70430281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534242901	chr6:70430292-70430293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554026163	chr6:70430311-70430312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6924743	chr6:70430312-70430313	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs542822905	chr6:70430321-70430322	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:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70378800-70430800	Weak transcription	Fetal Stomach	stomach
2	chr6:70378800-70430800	Weak transcription	Spleen	Spleen
3	chr6:70378800-70435200	Weak transcription	Psoas Muscle	Psoas
4	chr6:70379000-70435400	Weak transcription	Fetal Brain Male	brain
5	chr6:70379600-70431000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:70380400-70430600	Weak transcription	Fetal Intestine Small	intestine
7	chr6:70380600-70455600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:70380800-70467800	Weak transcription	K562	blood
9	chr6:70382200-70435400	Weak transcription	Brain Angular Gyrus	brain
10	chr6:70382400-70430200	Weak transcription	Small Intestine	intestine
11	chr6:70383800-70431000	Weak transcription	Lung	lung
12	chr6:70384200-70431000	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:70397800-70439000	Weak transcription	Fetal Heart	heart
14	chr6:70400800-70430800	Weak transcription	Pancreas	Pancrea
15	chr6:70402000-70430800	Weak transcription	Esophagus	oesophagus
16	chr6:70402200-70435200	Weak transcription	Brain Anterior Caudate	brain
17	chr6:70402800-70430800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:70403000-70429800	Weak transcription	NHDF-Ad	bronchial
19	chr6:70403400-70432200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:70404200-70447400	Weak transcription	Hela-S3	cervix
21	chr6:70404600-70433800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:70405000-70432200	Weak transcription	Fetal Brain Female	brain
23	chr6:70405000-70468400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:70405400-70434600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:70405600-70446400	Weak transcription	HepG2	liver
26	chr6:70406000-70430800	Weak transcription	Thymus	Thymus
27	chr6:70406000-70433600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:70406200-70438400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:70406600-70431200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:70406600-70449400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:70406600-70457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:70408000-70430200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:70408400-70431200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:70408400-70434400	Weak transcription	Brain Germinal Matrix	brain
35	chr6:70410000-70430800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:70410000-70435400	Weak transcription	Brain Substantia Nigra	brain
37	chr6:70413000-70435600	Weak transcription	HSMMtube	muscle
38	chr6:70413800-70429200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr6:70414200-70431000	Weak transcription	Gastric	stomach
40	chr6:70414200-70433000	Weak transcription	Right Ventricle	heart
41	chr6:70414800-70430400	Weak transcription	NH-A	brain
42	chr6:70416800-70431400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:70417400-70431400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:70417400-70455600	Weak transcription	Fetal Kidney	kidney
45	chr6:70417600-70430600	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:70417800-70429400	Weak transcription	HSMM	muscle
47	chr6:70418600-70455800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:70420600-70429600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:70421200-70429200	Weak transcription	HUVEC	blood vessel
50	chr6:70421200-70429800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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