Variant report

Variant	esv3333565
Chromosome Location	chr6:167097262-167101060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167095053..167097754-chr6:167110301..167112969,2	K562	blood:
2	chr6:167097647..167099488-chr6:167100247..167103727,3	K562	blood:
3	chr6:167097647..167100107-chr6:167101291..167103727,2	K562	blood:
4	chr6:167097647..167099488-chr6:167100247..167103727,3	K562	blood:
5	chr6:167099352..167102037-chr6:167146508..167149347,2	MCF-7	breast:

Extended variants
information (count: 195 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs76664232	chr6:167097277-167097278	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs576627821	chr6:167097278-167097279	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs575354795	chr6:167097280-167097281	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs9347148	chr6:167097314-167097315	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112999038	chr6:167097333-167097334	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs577857322	chr6:167097367-167097368	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs191580179	chr6:167097389-167097390	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs560395983	chr6:167097414-167097415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571915715	chr6:167097416-167097417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75020816	chr6:167097419-167097420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560634255	chr6:167097499-167097500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531332139	chr6:167097535-167097536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377235340	chr6:167097539-167097540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549958106	chr6:167097575-167097576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576851306	chr6:167097586-167097587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34922893	chr6:167097600-167097601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183544381	chr6:167097615-167097616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186467134	chr6:167097620-167097621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190222815	chr6:167097628-167097629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117735357	chr6:167097657-167097658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536221328	chr6:167097683-167097684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370554086	chr6:167097753-167097754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548640026	chr6:167097754-167097755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570145201	chr6:167097760-167097761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537590893	chr6:167097764-167097765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112637105	chr6:167097852-167097853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577714268	chr6:167097867-167097868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182478870	chr6:167097877-167097878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574372098	chr6:167097895-167097896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114940689	chr6:167097899-167097900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572338804	chr6:167097913-167097914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542193996	chr6:167097981-167097982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562854363	chr6:167098011-167098012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112720595	chr6:167098024-167098025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543074720	chr6:167098061-167098062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150058694	chr6:167098079-167098080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73259098	chr6:167098091-167098092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547988610	chr6:167098102-167098103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78046351	chr6:167098164-167098165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145377697	chr6:167098175-167098176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140895870	chr6:167098176-167098177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548547507	chr6:167098186-167098187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186801692	chr6:167098281-167098282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537443760	chr6:167098303-167098304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9457193	chr6:167098318-167098319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs34281841	chr6:167098329-167098330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570937973	chr6:167098366-167098367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144756174	chr6:167098372-167098373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553961131	chr6:167098381-167098382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs932356	chr6:167098435-167098436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:89)

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
Ovarian cancer	21720365	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
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167087200-167100800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:167087600-167100200	Weak transcription	Brain Anterior Caudate	brain
3	chr6:167089400-167100800	Weak transcription	Fetal Lung	lung
4	chr6:167091600-167098800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:167092000-167101000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:167092200-167098400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:167092400-167099600	Weak transcription	Gastric	stomach
8	chr6:167095800-167098800	Enhancers	Pancreas	Pancrea
9	chr6:167096000-167100800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:167096200-167097400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:167096400-167097400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:167096400-167097600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:167096400-167097600	Enhancers	NH-A	brain
14	chr6:167096400-167097800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:167096400-167097800	Enhancers	HUVEC	blood vessel
16	chr6:167096400-167098200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:167096400-167098200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:167096600-167100200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:167096800-167097400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:167096800-167097400	Enhancers	Hela-S3	cervix
21	chr6:167096800-167097400	Enhancers	HSMM	muscle
22	chr6:167096800-167111600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr6:167097200-167097400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:167097200-167097400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:167097200-167097600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:167097200-167097600	Enhancers	Fetal Heart	heart
27	chr6:167097200-167097600	Enhancers	Lung	lung
28	chr6:167097400-167098600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:167097600-167101200	Weak transcription	Lung	lung
30	chr6:167097600-167104600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:167098200-167100600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:167098200-167100600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:167098400-167098600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:167098600-167099000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:167098600-167099000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:167098800-167100200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:167098800-167105000	Weak transcription	Pancreas	Pancrea
38	chr6:167099000-167100200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:167099000-167100800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:167099600-167099800	Enhancers	Gastric	stomach
41	chr6:167099800-167100600	Weak transcription	Gastric	stomach
42	chr6:167100200-167100400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:167100200-167100800	Enhancers	Spleen	Spleen
44	chr6:167100200-167101600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:167100200-167102200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:167100200-167102200	Enhancers	Brain Anterior Caudate	brain
47	chr6:167100200-167102400	Enhancers	Brain Germinal Matrix	brain
48	chr6:167100400-167100800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
49	chr6:167100400-167102000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:167100400-167102200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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