Variant report

Variant	esv1796945
Chromosome Location	chr6:164430826-164448156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164439488..164441504-chr6:164445154..164447554,2	K562	blood:
2	chr6:164441188..164443063-chr6:164529123..164531382,2	K562	blood:
3	chr6:164444664..164447079-chr6:164450112..164453288,3	K562	blood:
4	chr6:164445952..164448558-chr6:164471088..164472960,2	K562	blood:
5	chr6:164439488..164441504-chr6:164445154..164447554,2	K562	blood:

Variant related genes	Relation type
ENSG00000230627	chromatin interactions

Extended variants
information (count: 762 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:762 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs206010	chr6:164430826-164430827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113112577	chr6:164430829-164430830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375668741	chr6:164430836-164430837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555865897	chr6:164430879-164430880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191986494	chr6:164430891-164430892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76115897	chr6:164430900-164430901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183465960	chr6:164430926-164430927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572829649	chr6:164430977-164430978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs206011	chr6:164430998-164430999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs206012	chr6:164431048-164431049	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs116369631	chr6:164431124-164431125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146914230	chr6:164431130-164431131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572270351	chr6:164431133-164431134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187587559	chr6:164431138-164431139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374239881	chr6:164431140-164431141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529350340	chr6:164431154-164431155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549398011	chr6:164431162-164431163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191656568	chr6:164431177-164431178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182625919	chr6:164431196-164431197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534821124	chr6:164431214-164431215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139222218	chr6:164431229-164431230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187285623	chr6:164431250-164431251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564413616	chr6:164431300-164431301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115689545	chr6:164431339-164431340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs206013	chr6:164431399-164431400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191426616	chr6:164431422-164431423	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs372506281	chr6:164431433-164431434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs141776798	chr6:164431525-164431526	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552678391	chr6:164431536-164431537	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs375947376	chr6:164431537-164431538	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572763962	chr6:164431540-164431541	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544799448	chr6:164431547-164431548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561955486	chr6:164431595-164431596	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs184523763	chr6:164431629-164431630	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578224537	chr6:164431665-164431666	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377306738	chr6:164431671-164431672	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544024408	chr6:164431684-164431685	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564021106	chr6:164431706-164431707	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117596955	chr6:164431806-164431807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543306348	chr6:164431849-164431850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74947367	chr6:164431879-164431880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529259673	chr6:164431919-164431920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147053959	chr6:164431949-164431950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551591947	chr6:164431963-164431964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560444339	chr6:164432020-164432021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530664686	chr6:164432055-164432056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190476438	chr6:164432071-164432072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193100971	chr6:164432077-164432078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536156685	chr6:164432102-164432103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565795209	chr6:164432113-164432114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164421600-164431200	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:164426800-164431400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:164427600-164431200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:164429400-164431200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:164429400-164431400	Weak transcription	Psoas Muscle	Psoas
6	chr6:164429800-164434800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:164430000-164431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:164430000-164431600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:164430000-164431600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:164430000-164433400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:164430400-164431400	Weak transcription	Right Atrium	heart
12	chr6:164430800-164431800	Weak transcription	Brain Substantia Nigra	brain
13	chr6:164431000-164431800	Enhancers	Brain Angular Gyrus	brain
14	chr6:164431000-164432200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:164431000-164432600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:164431200-164431400	Enhancers	Brain Hippocampus Middle	brain
17	chr6:164431200-164431600	Enhancers	Right Ventricle	heart
18	chr6:164431200-164431800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:164431200-164432000	Enhancers	Brain Cingulate Gyrus	brain
20	chr6:164431200-164432000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:164431200-164432000	Enhancers	HSMMtube	muscle
22	chr6:164431200-164432200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:164431200-164432200	Enhancers	Brain Anterior Caudate	brain
24	chr6:164431200-164432200	Enhancers	Fetal Muscle Leg	muscle
25	chr6:164431200-164432400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:164431400-164431800	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr6:164431400-164432000	Enhancers	Fetal Muscle Trunk	muscle
28	chr6:164431400-164432000	Enhancers	Left Ventricle	heart
29	chr6:164431400-164432000	Enhancers	Psoas Muscle	Psoas
30	chr6:164431400-164432200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:164431400-164432200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr6:164431400-164432600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:164431600-164432000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:164431600-164432000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:164431600-164432200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:164431600-164432200	Enhancers	Brain Germinal Matrix	brain
37	chr6:164431600-164435800	Weak transcription	Right Atrium	heart
38	chr6:164431600-164442600	Weak transcription	Right Ventricle	heart
39	chr6:164431800-164432200	Enhancers	Brain Hippocampus Middle	brain
40	chr6:164431800-164432200	Enhancers	Brain Substantia Nigra	brain
41	chr6:164431800-164432400	Enhancers	Adipose Nuclei	Adipose
42	chr6:164431800-164435600	Weak transcription	Brain Angular Gyrus	brain
43	chr6:164432000-164434800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:164432000-164434800	Weak transcription	HSMMtube	muscle
45	chr6:164432000-164435000	Weak transcription	Psoas Muscle	Psoas
46	chr6:164432000-164435600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:164432000-164435600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr6:164432000-164436000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:164432000-164437200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:164432200-164434800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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