Variant report

Variant	esv3360100
Chromosome Location	chr6:101246698-101247072
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	chr6:101246621..101249156-chr6:101327376..101329870,2	K562	blood:

Variant related genes	Relation type
ENSG00000112249	chromatin interactions
ENSG00000260000	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567632011	chr6:101246768-101246769	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376196328	chr6:101246783-101246784	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148398922	chr6:101246803-101246804	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs9498392	chr6:101246823-101246824	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544995398	chr6:101246847-101246848	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539748461	chr6:101246849-101246850	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs386704252	chr6:101246862-101246863	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs79529372	chr6:101246872-101246873	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs66480968	chr6:101246873-101246874	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76707618	chr6:101246874-101246875	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs550163913	chr6:101246889-101246890	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs112062980	chr6:101246939-101246940	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs371211349	chr6:101246940-101246941	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs77528789	chr6:101247017-101247018	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs367603963	chr6:101247022-101247023	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs374955483	chr6:101247072-101247073	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

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
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
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
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	17640729	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
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
2	chr6:101191400-101277000	Weak transcription	Esophagus	oesophagus
3	chr6:101212000-101276200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:101212000-101281400	Weak transcription	Aorta	Aorta
5	chr6:101213600-101256000	Weak transcription	Ovary	ovary
6	chr6:101213600-101281600	Weak transcription	Gastric	stomach
7	chr6:101213800-101250800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:101213800-101254200	Weak transcription	Fetal Thymus	thymus
9	chr6:101214800-101281600	Weak transcription	Left Ventricle	heart
10	chr6:101215200-101247000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr6:101215200-101252600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:101215200-101256200	Weak transcription	Osteobl	bone
13	chr6:101215200-101263000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:101215200-101311400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:101215400-101258600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:101223000-101256800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:101226000-101281400	Weak transcription	HUVEC	blood vessel
18	chr6:101232000-101255200	Weak transcription	NHLF	lung
19	chr6:101233600-101306600	Weak transcription	K562	blood
20	chr6:101233800-101265200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:101234400-101254400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:101234600-101260000	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:101236800-101257800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:101237000-101257400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:101238000-101251000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:101238000-101296200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:101238800-101257200	Weak transcription	HepG2	liver
28	chr6:101239400-101254600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:101239800-101257800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:101240200-101257800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:101240400-101266000	Weak transcription	Pancreas	Pancrea
32	chr6:101240600-101277000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:101241400-101250600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:101241600-101276200	Weak transcription	Fetal Intestine Large	intestine
35	chr6:101241800-101253400	Strong transcription	Dnd41	blood
36	chr6:101241800-101276200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:101242600-101248400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:101242600-101252800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:101242600-101254600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:101242600-101262600	Weak transcription	Small Intestine	intestine
41	chr6:101242800-101246800	Weak transcription	Brain Angular Gyrus	brain
42	chr6:101242800-101256800	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:101243000-101247000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:101243000-101252200	Weak transcription	Fetal Muscle Leg	muscle
45	chr6:101243200-101254000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:101243200-101257000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:101243200-101276200	Weak transcription	Fetal Lung	lung
48	chr6:101243200-101277800	Weak transcription	NHEK	skin
49	chr6:101243400-101247400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:101243400-101252400	Weak transcription	Primary hematopoietic stem cells	blood

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