Variant report

Variant	esv3351998
Chromosome Location	chr6:167059962-167063760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167059230..167061692-chr6:167062688..167064872,2	K562	blood:
2	chr6:167059027..167061692-chr6:167062613..167064872,3	K562	blood:
3	chr6:167062835..167064756-chr6:167066345..167069061,2	K562	blood:
4	chr6:167059027..167061692-chr6:167062613..167064872,3	K562	blood:
5	chr6:167059230..167061692-chr6:167062688..167064872,2	K562	blood:

Extended variants
information (count: 247 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191817195	chr6:167059965-167059966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151101647	chr6:167059967-167059968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141030875	chr6:167059976-167059977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6935499	chr6:167060016-167060017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150228059	chr6:167060026-167060027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537680909	chr6:167060033-167060034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576082900	chr6:167060049-167060050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60767138	chr6:167060073-167060074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374021956	chr6:167060095-167060096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546153052	chr6:167060096-167060097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576843591	chr6:167060098-167060099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139104271	chr6:167060133-167060134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76905922	chr6:167060148-167060149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530271196	chr6:167060153-167060154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542114678	chr6:167060155-167060156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563666881	chr6:167060205-167060206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6937198	chr6:167060206-167060207	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535296284	chr6:167060258-167060259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570780342	chr6:167060291-167060292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528541124	chr6:167060362-167060363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141566039	chr6:167060371-167060372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565874640	chr6:167060384-167060385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112585425	chr6:167060390-167060391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138287236	chr6:167060407-167060408	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs569929625	chr6:167060408-167060409	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs374864674	chr6:167060412-167060413	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs9295359	chr6:167060434-167060435	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568658472	chr6:167060465-167060466	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs529847083	chr6:167060466-167060467	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs558480672	chr6:167060476-167060477	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs118013843	chr6:167060564-167060565	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs183168741	chr6:167060590-167060591	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs369706383	chr6:167060609-167060610	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs552697937	chr6:167060636-167060637	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs9347142	chr6:167060640-167060641	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566542707	chr6:167060650-167060651	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs112630610	chr6:167060651-167060652	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs113992323	chr6:167060670-167060671	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs563556528	chr6:167060690-167060691	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs558486679	chr6:167060700-167060701	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs12333057	chr6:167060732-167060733	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11965853	chr6:167060734-167060735	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564466948	chr6:167060740-167060741	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs528519796	chr6:167060794-167060795	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs547091299	chr6:167060808-167060809	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs57928860	chr6:167060812-167060813	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs12333059	chr6:167060829-167060830	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556125331	chr6:167060867-167060868	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs62438671	chr6:167060906-167060907	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548375018	chr6:167060990-167060991	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167045000-167061200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:167047600-167061200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:167054400-167061400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:167054600-167061400	Weak transcription	Fetal Heart	heart
5	chr6:167054600-167061400	Weak transcription	Gastric	stomach
6	chr6:167054600-167062800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:167054600-167063000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:167054600-167063000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:167054800-167061200	Weak transcription	Fetal Kidney	kidney
10	chr6:167054800-167062800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:167056600-167062800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:167057800-167069400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr6:167059400-167060600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:167059600-167061800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:167060000-167060800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:167060400-167061000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:167060600-167061400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:167060800-167061000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:167061000-167061200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:167061200-167061400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:167061200-167061800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:167061200-167061800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr6:167061200-167061800	ZNF genes & repeats	Fetal Kidney	kidney
24	chr6:167061200-167061800	Bivalent/Poised TSS	Fetal Lung	lung
25	chr6:167061200-167061800	Enhancers	Pancreas	Pancrea
26	chr6:167061400-167061600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:167061400-167061800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:167061400-167061800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:167061400-167061800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:167061400-167061800	ZNF genes & repeats	Fetal Brain Male	brain
31	chr6:167061400-167061800	ZNF genes & repeats	Gastric	stomach
32	chr6:167061400-167061800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
33	chr6:167061400-167061800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:167061400-167064600	Enhancers	Fetal Heart	heart
35	chr6:167061600-167061800	ZNF genes & repeats	Esophagus	oesophagus
36	chr6:167061600-167068800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:167061800-167062600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:167061800-167063200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:167061800-167063200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:167061800-167063800	Weak transcription	Fetal Brain Male	brain
41	chr6:167061800-167064000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:167061800-167068800	Weak transcription	Gastric	stomach
43	chr6:167061800-167068800	Weak transcription	Pancreas	Pancrea
44	chr6:167061800-167069800	Weak transcription	Esophagus	oesophagus
45	chr6:167061800-167071000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:167061800-167071800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:167062400-167064600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr6:167062600-167064200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:167062800-167063200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:167062800-167064400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links