Variant report

Variant	esv6905
Chromosome Location	chr2:39071283-39072100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38977095..38979491-chr2:39071029..39074824,4	K562	blood:
2	chr2:39065545..39067577-chr2:39069948..39073607,4	K562	blood:
3	chr2:38971477..38974181-chr2:39070212..39071979,2	K562	blood:
4	chr2:38977039..38980057-chr2:39069909..39072529,4	K562	blood:

Variant related genes	Relation type
ENSG00000115875	chromatin interactions
ENSG00000152147	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187690325	chr2:39071307-39071308	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531730748	chr2:39071324-39071325	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs193121010	chr2:39071330-39071331	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs3112159	chr2:39071336-39071337	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142735611	chr2:39071368-39071369	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs547637738	chr2:39071451-39071452	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566381868	chr2:39071453-39071454	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs62142681	chr2:39071479-39071480	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150927948	chr2:39071486-39071487	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs201807097	chr2:39071491-39071492	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs199821969	chr2:39071492-39071493	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555480103	chr2:39071493-39071494	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567506257	chr2:39071494-39071495	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534835583	chr2:39071664-39071665	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552866251	chr2:39071665-39071666	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369532580	chr2:39071697-39071698	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373274820	chr2:39071703-39071704	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376419163	chr2:39071726-39071727	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs371057754	chr2:39071729-39071730	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs61728283	chr2:39071792-39071793	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201931972	chr2:39071819-39071820	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs547039409	chr2:39071821-39071822	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs577873614	chr2:39071833-39071834	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs183914606	chr2:39071912-39071913	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550110107	chr2:39071921-39071922	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188516169	chr2:39071957-39071958	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs79760593	chr2:39071988-39071989	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs569238312	chr2:39072010-39072011	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs576004230	chr2:39072039-39072040	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs80284353	chr2:39072078-39072079	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs193067466	chr2:39072094-39072095	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39006400-39085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:39026600-39079800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:39030600-39088200	Weak transcription	Fetal Heart	heart
4	chr2:39032800-39072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:39038800-39095600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:39038800-39102200	Weak transcription	Gastric	stomach
7	chr2:39039000-39085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:39039000-39090000	Weak transcription	Esophagus	oesophagus
9	chr2:39039000-39101200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:39039000-39102000	Weak transcription	Colonic Mucosa	Colon
11	chr2:39042800-39080600	Weak transcription	Small Intestine	intestine
12	chr2:39043600-39079800	Weak transcription	Right Ventricle	heart
13	chr2:39046000-39073200	Weak transcription	Pancreas	Pancrea
14	chr2:39050400-39072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:39050400-39079800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:39050400-39079800	Weak transcription	Spleen	Spleen
17	chr2:39050400-39088000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:39053800-39080200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:39053800-39080600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:39054200-39076400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:39055000-39080000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:39055200-39085600	Weak transcription	Psoas Muscle	Psoas
23	chr2:39055600-39071600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:39055600-39073200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:39055600-39080000	Weak transcription	NH-A	brain
26	chr2:39055600-39080600	Weak transcription	Hela-S3	cervix
27	chr2:39055600-39080600	Weak transcription	K562	blood
28	chr2:39057000-39086200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:39057200-39071400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:39058000-39087800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:39060000-39080000	Weak transcription	Lung	lung
32	chr2:39060200-39075400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:39061200-39073400	Strong transcription	Fetal Intestine Large	intestine
34	chr2:39062400-39083400	Weak transcription	NHEK	skin
35	chr2:39063600-39079800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:39063600-39080600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:39063600-39088400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:39064000-39080000	Weak transcription	Fetal Brain Male	brain
39	chr2:39064200-39079800	Weak transcription	Thymus	Thymus
40	chr2:39064400-39081000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:39064600-39079800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:39065000-39076800	Weak transcription	GM12878-XiMat	blood
43	chr2:39065200-39080600	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:39065400-39073200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:39065800-39079800	Weak transcription	Liver	Liver
46	chr2:39066000-39072600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:39066000-39080000	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:39066800-39079800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:39067000-39071400	Strong transcription	Osteobl	bone
50	chr2:39067000-39072800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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