Variant report

Variant	nsv432974
Chromosome Location	chr6:162605589-162917589
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
2	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
3	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
4	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
5	chr6:162902802..162905070-chr6:162905406..162907332,2	K562	blood:
6	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
7	chr6:162863816..162864618-chr6:163271757..163272511,2	MCF-7	breast:
8	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
9	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
10	chr6:162863367..162864320-chr6:163157771..163158572,4	MCF-7	breast:
11	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
12	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
13	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
14	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
15	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
16	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
17	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
18	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
19	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
20	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
21	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
22	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
23	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
24	chr6:162902802..162905070-chr6:162905406..162907332,2	K562	blood:
25	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
26	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:

No data

Extended variants
information (count: 13199 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:13199 , 50 per page) page: 1 2 3 4 5 6 7 ... 264

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60361744	chr6:162605613-162605614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144975650	chr6:162605625-162605626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181303319	chr6:162605628-162605629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186398137	chr6:162605654-162605655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57933654	chr6:162605675-162605676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530392185	chr6:162605691-162605692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538311739	chr6:162605700-162605701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113094556	chr6:162605707-162605708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191302852	chr6:162605727-162605728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552417926	chr6:162605786-162605787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564307149	chr6:162605847-162605848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577720514	chr6:162605925-162605926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183431474	chr6:162605974-162605975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6914284	chr6:162605985-162605986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201276640	chr6:162606001-162606002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373438100	chr6:162606013-162606014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186943169	chr6:162606076-162606077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9458476	chr6:162606080-162606081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535854564	chr6:162606087-162606088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554724263	chr6:162606088-162606089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148948041	chr6:162606108-162606109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550299200	chr6:162606125-162606126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547442460	chr6:162606141-162606142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116974010	chr6:162606142-162606143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191225753	chr6:162606162-162606163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370607659	chr6:162606191-162606192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539576945	chr6:162606216-162606217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544998119	chr6:162606217-162606218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372937356	chr6:162606251-162606252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112913800	chr6:162606276-162606277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377358557	chr6:162606313-162606314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199507077	chr6:162606316-162606317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576621244	chr6:162606319-162606320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs58081236	chr6:162606320-162606321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6934514	chr6:162606345-162606346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115561853	chr6:162606353-162606354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547269455	chr6:162606375-162606376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556033741	chr6:162606438-162606439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532183869	chr6:162606439-162606440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549561677	chr6:162606449-162606450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6915212	chr6:162606477-162606478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs73594241	chr6:162606543-162606544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537915463	chr6:162606556-162606557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115350326	chr6:162606557-162606558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568205991	chr6:162606569-162606570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368854967	chr6:162606579-162606580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143140411	chr6:162606592-162606593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576711999	chr6:162606615-162606616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371241538	chr6:162606620-162606621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148255839	chr6:162606624-162606625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Parkinson disease	21829596	CNVD
Gastric cancer	22315472	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	22495309	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	19805367	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1014 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162591200-162607600	Weak transcription	Right Atrium	heart
2	chr6:162599600-162607800	Weak transcription	Right Ventricle	heart
3	chr6:162600600-162607600	Weak transcription	Left Ventricle	heart
4	chr6:162600800-162607600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:162601400-162606200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr6:162601400-162607600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:162603200-162606200	Weak transcription	Fetal Heart	heart
8	chr6:162603400-162608200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:162605200-162606400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:162605400-162606800	Enhancers	HUVEC	blood vessel
11	chr6:162605800-162624200	Weak transcription	Pancreas	Pancrea
12	chr6:162606200-162609800	Enhancers	Fetal Heart	heart
13	chr6:162607600-162608200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:162607600-162609600	Enhancers	Left Ventricle	heart
15	chr6:162607600-162609600	Enhancers	Right Atrium	heart
16	chr6:162607600-162609600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:162607800-162608600	Enhancers	Right Ventricle	heart
18	chr6:162607800-162609600	Enhancers	Psoas Muscle	Psoas
19	chr6:162608200-162608600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:162608200-162608600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr6:162608200-162608800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:162608200-162609000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:162608600-162609600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:162609600-162612000	Weak transcription	Right Atrium	heart
25	chr6:162609600-162622000	Weak transcription	Left Ventricle	heart
26	chr6:162609600-162622400	Weak transcription	Psoas Muscle	Psoas
27	chr6:162609800-162610800	Weak transcription	Fetal Heart	heart
28	chr6:162610800-162611000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:162610800-162612400	Enhancers	Fetal Heart	heart
30	chr6:162612000-162613000	Enhancers	Right Atrium	heart
31	chr6:162612400-162615800	Weak transcription	Fetal Heart	heart
32	chr6:162613000-162621600	Weak transcription	Spleen	Spleen
33	chr6:162613000-162622000	Weak transcription	Right Atrium	heart
34	chr6:162615800-162617200	Enhancers	Fetal Heart	heart
35	chr6:162616200-162616400	Weak transcription	Aorta	Aorta
36	chr6:162616200-162617200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:162617200-162621800	Weak transcription	Fetal Heart	heart
38	chr6:162618800-162619200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:162619000-162619400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:162619000-162619400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:162619200-162622000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:162619800-162620000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:162620600-162620800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:162620800-162621400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:162620800-162623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:162620800-162623000	Enhancers	Adipose Nuclei	Adipose
47	chr6:162621000-162622800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr6:162621200-162622200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:162621600-162622000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:162621600-162622400	Enhancers	Fetal Stomach	stomach

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