Variant report

Variant	esv3343216
Chromosome Location	chr6:37146324-37148272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37144838..37147064-chr6:37153595..37157045,3	K562	blood:
2	chr6:36996009..36998535-chr6:37144117..37146528,2	K562	blood:
3	chr6:37144419..37146803-chr6:37161414..37163193,2	K562	blood:
4	chr6:37143067..37148225-chr6:37171800..37179920,10	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536265218	chr6:37146328-37146329	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs187951055	chr6:37146337-37146338	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577745839	chr6:37146433-37146434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9470513	chr6:37146471-37146472	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9394419	chr6:37146484-37146485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148238682	chr6:37146558-37146559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs262931	chr6:37146565-37146566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs368899973	chr6:37146597-37146598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193032506	chr6:37146618-37146619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150786622	chr6:37146636-37146637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113514884	chr6:37146677-37146678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563592699	chr6:37146683-37146684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532644291	chr6:37146700-37146701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142694012	chr6:37146701-37146702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565977177	chr6:37146716-37146717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531506621	chr6:37146769-37146770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12196012	chr6:37146834-37146835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183275690	chr6:37146840-37146841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548443342	chr6:37146911-37146912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74719701	chr6:37146979-37146980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370642233	chr6:37147037-37147038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9470514	chr6:37147044-37147045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192074152	chr6:37147046-37147047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139822447	chr6:37147051-37147052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564473951	chr6:37147083-37147084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184471016	chr6:37147127-37147128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189489646	chr6:37147135-37147136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192960112	chr6:37147142-37147143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367983683	chr6:37147149-37147150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9470515	chr6:37147155-37147156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9470516	chr6:37147156-37147157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13194098	chr6:37147159-37147160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189505369	chr6:37147163-37147164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371736429	chr6:37147171-37147172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369419557	chr6:37147174-37147175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558769454	chr6:37147178-37147179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9470517	chr6:37147179-37147180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572299053	chr6:37147180-37147181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374655004	chr6:37147181-37147182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201549729	chr6:37147182-37147183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559749971	chr6:37147184-37147185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12154133	chr6:37147196-37147197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12154046	chr6:37147197-37147198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34731440	chr6:37147204-37147205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13194181	chr6:37147205-37147206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377719687	chr6:37147209-37147210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12154047	chr6:37147210-37147211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12154135	chr6:37147211-37147212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375721229	chr6:37147216-37147217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369065813	chr6:37147224-37147225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37141000-37165000	Weak transcription	Right Atrium	heart
2	chr6:37142600-37159600	Weak transcription	Fetal Heart	heart
3	chr6:37143000-37147800	Weak transcription	Colonic Mucosa	Colon
4	chr6:37143200-37146800	Enhancers	Primary hematopoietic stem cells	blood
5	chr6:37143200-37147000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:37143200-37148000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:37143200-37150600	Weak transcription	Gastric	stomach
8	chr6:37143200-37153000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:37143400-37150400	Weak transcription	Lung	lung
10	chr6:37143400-37150600	Weak transcription	Thymus	Thymus
11	chr6:37143400-37150600	Weak transcription	HepG2	liver
12	chr6:37143400-37155200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:37143400-37159600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:37143600-37146400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:37143600-37150600	Weak transcription	Liver	Liver
16	chr6:37143600-37150600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:37143600-37150800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:37143600-37151200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:37143600-37151800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:37143800-37146400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:37143800-37147800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:37143800-37148600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:37143800-37150800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:37143800-37151200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:37144000-37146400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:37144000-37146400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:37144000-37151200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:37144600-37146800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:37144600-37155000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:37144800-37148400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:37145000-37146400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr6:37145000-37147800	Weak transcription	Dnd41	blood
33	chr6:37145000-37148600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:37145200-37150600	Weak transcription	Spleen	Spleen
35	chr6:37145200-37153400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:37145400-37147400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr6:37145400-37147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:37145400-37147600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:37145600-37162800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:37145800-37146400	Enhancers	K562	blood
41	chr6:37145800-37146600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:37145800-37147400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:37145800-37149400	Weak transcription	Primary T cells from cord blood	blood
44	chr6:37145800-37150600	Weak transcription	Adipose Nuclei	Adipose
45	chr6:37145800-37150600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:37145800-37150600	Weak transcription	GM12878-XiMat	blood
47	chr6:37145800-37159600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:37146000-37147600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:37146000-37147600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:37146000-37149000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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