Variant report

Variant	esv274873
Chromosome Location	chr6:164945826-164950906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164944443..164946258-chr6:164955428..164957824,2	K562	blood:

Extended variants
information (count: 179 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs560175259	chr6:164947202-164947203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs374182429	chr6:164947203-164947204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371089633	chr6:164947211-164947212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs552068528	chr6:164947271-164947272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs186166439	chr6:164947273-164947274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs537604124	chr6:164947307-164947308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs543802652	chr6:164947313-164947314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs550889744	chr6:164947407-164947408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567785583	chr6:164947424-164947425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs536331310	chr6:164947428-164947429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116823885	chr6:164947448-164947449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572871310	chr6:164947548-164947549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs6918213	chr6:164947552-164947553	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547807412	chr6:164947561-164947562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs558392386	chr6:164947613-164947614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12215129	chr6:164947704-164947705	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544443916	chr6:164947745-164947746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs191614343	chr6:164947746-164947747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574510315	chr6:164947773-164947774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs386708259	chr6:164947794-164947795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs75337542	chr6:164947795-164947796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532104227	chr6:164947843-164947844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs190812972	chr6:164947897-164947898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533585868	chr6:164947907-164947908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565616742	chr6:164947941-164947942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs117064638	chr6:164947942-164947943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs183151811	chr6:164948060-164948061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189108369	chr6:164948075-164948076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536366886	chr6:164948096-164948097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372964414	chr6:164948102-164948103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546657919	chr6:164948111-164948112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548487047	chr6:164948113-164948114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13218264	chr6:164948114-164948115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558680649	chr6:164948126-164948127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575536309	chr6:164948151-164948152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367896659	chr6:164948173-164948174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537736306	chr6:164948183-164948184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191410263	chr6:164948209-164948210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574518980	chr6:164948253-164948254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372095745	chr6:164948274-164948275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9459130	chr6:164948302-164948303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553856477	chr6:164948303-164948304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544268580	chr6:164948311-164948312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75335890	chr6:164948329-164948330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562326512	chr6:164948368-164948369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531262531	chr6:164948372-164948373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544547608	chr6:164948402-164948403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561544815	chr6:164948411-164948412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530194949	chr6:164948421-164948422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546694932	chr6:164948431-164948432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164947200-164947600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:164947400-164947600	ZNF genes & repeats	Brain Hippocampus Middle	brain
3	chr6:164947600-164948000	ZNF genes & repeats	Fetal Brain Male	brain
4	chr6:164948000-164953000	Weak transcription	Fetal Brain Male	brain
5	chr6:164948800-164949000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:164949000-164954800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links