Variant report

Variant	esv14940
Chromosome Location	chr6:106697399-106701478
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	chr6:106695363..106697607-chr6:106707956..106710160,2	K562	blood:

Extended variants
information (count: 159 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539732265	chr6:106697401-106697402	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146510684	chr6:106697445-106697446	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576026058	chr6:106697450-106697451	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535412561	chr6:106697492-106697493	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555488564	chr6:106697516-106697517	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572467620	chr6:106697518-106697519	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541187284	chr6:106697538-106697539	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs646438	chr6:106697610-106697611	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182303744	chr6:106697626-106697627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555879065	chr6:106697637-106697638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs646351	chr6:106697672-106697673	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562815412	chr6:106697688-106697689	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531637957	chr6:106697689-106697690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374883371	chr6:106697737-106697738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548166855	chr6:106697744-106697745	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34637138	chr6:106697747-106697748	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561553737	chr6:106697886-106697887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527360720	chr6:106697902-106697903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141027602	chr6:106697905-106697906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147750476	chr6:106697931-106697932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559776069	chr6:106698021-106698022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34843857	chr6:106698053-106698054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539691704	chr6:106698083-106698084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549966269	chr6:106698135-106698136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151136970	chr6:106698139-106698140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373006259	chr6:106698142-106698143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369280550	chr6:106698143-106698144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373066310	chr6:106698144-106698145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569976291	chr6:106698147-106698148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535760292	chr6:106698186-106698187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552826783	chr6:106698210-106698211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555702395	chr6:106698216-106698217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572374218	chr6:106698229-106698230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185450805	chr6:106698274-106698275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142146106	chr6:106698317-106698318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540931164	chr6:106698357-106698358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375997620	chr6:106698452-106698453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151170923	chr6:106698525-106698526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190665229	chr6:106698551-106698552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562681289	chr6:106698582-106698583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554124273	chr6:106698587-106698588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576379119	chr6:106698588-106698589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180674564	chr6:106698645-106698646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561709935	chr6:106698685-106698686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527337604	chr6:106698724-106698725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185246755	chr6:106698794-106698795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528524534	chr6:106698815-106698816	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577359512	chr6:106698864-106698865	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532875280	chr6:106698867-106698868	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140243308	chr6:106698929-106698930	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106671600-106724400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:106675400-106698800	Weak transcription	Pancreas	Pancrea
3	chr6:106675400-106705000	Weak transcription	K562	blood
4	chr6:106676400-106739200	Weak transcription	Small Intestine	intestine
5	chr6:106676800-106698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:106677000-106699600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:106677600-106713000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:106683400-106710000	Weak transcription	Fetal Stomach	stomach
9	chr6:106683400-106716600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:106684000-106710600	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:106684000-106710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:106684000-106720200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:106684200-106700000	Weak transcription	NH-A	brain
14	chr6:106686000-106704000	Weak transcription	HepG2	liver
15	chr6:106686600-106710400	Weak transcription	Left Ventricle	heart
16	chr6:106688200-106698600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:106688200-106700600	Weak transcription	Psoas Muscle	Psoas
18	chr6:106688400-106700200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:106688400-106710400	Weak transcription	Right Ventricle	heart
20	chr6:106688800-106697400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:106688800-106701800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:106689400-106700600	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:106689400-106710800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:106689800-106698800	Weak transcription	Lung	lung
25	chr6:106689800-106734000	Weak transcription	Esophagus	oesophagus
26	chr6:106690000-106697400	Weak transcription	Brain Germinal Matrix	brain
27	chr6:106690200-106701000	Weak transcription	Aorta	Aorta
28	chr6:106690200-106709800	Weak transcription	Fetal Intestine Small	intestine
29	chr6:106690400-106713200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:106691200-106700000	Weak transcription	HSMMtube	muscle
31	chr6:106691600-106706000	Weak transcription	Ovary	ovary
32	chr6:106693800-106698800	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:106694000-106701000	Weak transcription	HUVEC	blood vessel
34	chr6:106694200-106698800	Weak transcription	Brain Anterior Caudate	brain
35	chr6:106694400-106697600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:106694400-106700400	Weak transcription	Fetal Brain Male	brain
37	chr6:106694400-106710800	Weak transcription	Spleen	Spleen
38	chr6:106694600-106703000	Weak transcription	Brain Angular Gyrus	brain
39	chr6:106694800-106697800	Strong transcription	Primary B cells from cord blood	blood
40	chr6:106695600-106698800	Weak transcription	Stomach Mucosa	stomach
41	chr6:106695800-106697600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:106695800-106699800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:106695800-106700000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:106695800-106700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:106695800-106701000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:106695800-106701600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:106695800-106705600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:106695800-106709200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:106695800-106740800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:106696000-106697600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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