Variant report

Variant	nsv1028447
Chromosome Location	chr6:162369857-162475056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
2	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
3	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
4	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
5	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
6	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
7	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
8	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
9	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
10	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:

No data

Extended variants
information (count: 3131 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3131 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138160070	chr6:162369875-162369876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149549838	chr6:162369876-162369877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536666505	chr6:162369889-162369890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556944540	chr6:162369958-162369959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567994529	chr6:162369971-162369972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188053427	chr6:162370022-162370023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535981402	chr6:162370077-162370078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552744680	chr6:162370095-162370096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112179544	chr6:162370188-162370189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200860986	chr6:162370204-162370205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1784603	chr6:162370272-162370273	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs565055597	chr6:162370281-162370282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575523827	chr6:162370313-162370314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553464374	chr6:162370314-162370315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199566442	chr6:162370335-162370336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565508268	chr6:162370340-162370341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1784602	chr6:162370348-162370349	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs60373816	chr6:162370359-162370360	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374374062	chr6:162370361-162370362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6934432	chr6:162370400-162370401	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375570344	chr6:162370412-162370413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576275657	chr6:162370416-162370417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559944577	chr6:162370422-162370423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528692301	chr6:162370481-162370482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181249992	chr6:162370487-162370488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386708012	chr6:162370497-162370498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555710535	chr6:162370500-162370501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1784601	chr6:162370527-162370528	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10644394	chr6:162370544-162370545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71691982	chr6:162370545-162370546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372492809	chr6:162370557-162370558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550295911	chr6:162370592-162370593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183836947	chr6:162370598-162370599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559891238	chr6:162370632-162370633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566968370	chr6:162370644-162370645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535905416	chr6:162370695-162370696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190003481	chr6:162370703-162370704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566302987	chr6:162370763-162370764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116229454	chr6:162370784-162370785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576970894	chr6:162370799-162370800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558753504	chr6:162370829-162370830	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs181874663	chr6:162370863-162370864	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs375659514	chr6:162370880-162370881	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs139044991	chr6:162370881-162370882	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574089801	chr6:162370893-162370894	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112982743	chr6:162370899-162370900	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs559611438	chr6:162370920-162370921	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559905684	chr6:162370923-162370924	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs528612371	chr6:162370926-162370927	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545255962	chr6:162370975-162370976	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Renal cell carcinoma	18592004	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
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Parkinson disease	21829596	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162354200-162372200	Weak transcription	Right Atrium	heart
2	chr6:162364800-162377000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:162366000-162370000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:162368000-162377200	Weak transcription	Fetal Brain Male	brain
5	chr6:162368600-162371600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:162368800-162371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:162369000-162370600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:162369600-162370200	Enhancers	Pancreas	Pancrea
9	chr6:162369800-162371000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:162370000-162370200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:162370200-162371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:162370200-162375000	Weak transcription	Pancreas	Pancrea
13	chr6:162370600-162371200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:162370800-162371000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:162371000-162384000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:162371600-162372600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:162371600-162372600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:162371600-162372800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:162371800-162372600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:162371800-162372600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:162372200-162372600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:162372200-162372600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr6:162372200-162372600	Enhancers	Fetal Heart	heart
24	chr6:162372200-162372600	Enhancers	Right Atrium	heart
25	chr6:162372200-162372800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:162372400-162373000	Enhancers	Psoas Muscle	Psoas
27	chr6:162372400-162376000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:162372600-162375200	Weak transcription	Right Atrium	heart
29	chr6:162372600-162377000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:162372600-162377000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:162372600-162377000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:162372600-162377000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:162372600-162377000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:162372600-162377200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:162372800-162374600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:162374600-162374800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:162374600-162374800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:162374600-162374800	Enhancers	Gastric	stomach
39	chr6:162374600-162376400	Enhancers	Left Ventricle	heart
40	chr6:162374800-162375400	Enhancers	HSMMtube	muscle
41	chr6:162374800-162380400	Weak transcription	Gastric	stomach
42	chr6:162375000-162375200	Enhancers	Pancreas	Pancrea
43	chr6:162375200-162375600	Enhancers	Fetal Brain Female	brain
44	chr6:162375200-162376200	Enhancers	Right Atrium	heart
45	chr6:162375200-162377600	Enhancers	Ovary	ovary
46	chr6:162375200-162384800	Weak transcription	Pancreas	Pancrea
47	chr6:162375800-162376400	Enhancers	Right Ventricle	heart
48	chr6:162376000-162376200	Enhancers	Aorta	Aorta
49	chr6:162376000-162377600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr6:162376200-162380200	Weak transcription	Aorta	Aorta

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