Variant report

Variant	nsv1027261
Chromosome Location	chr6:162370772-162475056
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	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
3	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
4	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
5	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
6	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
7	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
8	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
9	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
10	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:

No data

Extended variants
information (count: 3093 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3093 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116229454	chr6:162370784-162370785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576970894	chr6:162370799-162370800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558753504	chr6:162370829-162370830	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181874663	chr6:162370863-162370864	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375659514	chr6:162370880-162370881	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs139044991	chr6:162370881-162370882	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574089801	chr6:162370893-162370894	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs112982743	chr6:162370899-162370900	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs559611438	chr6:162370920-162370921	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs559905684	chr6:162370923-162370924	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528612371	chr6:162370926-162370927	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545255962	chr6:162370975-162370976	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565514845	chr6:162371007-162371008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28392951	chr6:162371012-162371013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550863768	chr6:162371025-162371026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566889975	chr6:162371056-162371057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187379069	chr6:162371060-162371061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547808832	chr6:162371086-162371087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563043139	chr6:162371157-162371158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545609704	chr6:162371195-162371196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74920914	chr6:162371219-162371220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566429637	chr6:162371226-162371227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538769256	chr6:162371249-162371250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558473141	chr6:162371289-162371290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569037933	chr6:162371329-162371330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537710525	chr6:162371368-162371369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371125303	chr6:162371386-162371387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9456726	chr6:162371410-162371411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1790015	chr6:162371417-162371418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530562059	chr6:162371425-162371426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192217531	chr6:162371439-162371440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117223511	chr6:162371534-162371535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367596387	chr6:162371556-162371557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573246102	chr6:162371595-162371596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545530200	chr6:162371634-162371635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565909663	chr6:162371644-162371645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6902304	chr6:162371705-162371706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs143256271	chr6:162371713-162371714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544477396	chr6:162371761-162371762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568017641	chr6:162371795-162371796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561225454	chr6:162371799-162371800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535242050	chr6:162371830-162371831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117066665	chr6:162371842-162371843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114457907	chr6:162371867-162371868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180970112	chr6:162371917-162371918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532066263	chr6:162371934-162371935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552260310	chr6:162371960-162371961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146853287	chr6:162371976-162371977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149187650	chr6:162372012-162372013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371725111	chr6:162372020-162372021	Weak transcription Enhancers	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:180 , 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	chr6:162368000-162377200	Weak transcription	Fetal Brain Male	brain
4	chr6:162368600-162371600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:162368800-162371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:162369800-162371000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:162370200-162371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:162370200-162375000	Weak transcription	Pancreas	Pancrea
9	chr6:162370600-162371200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:162370800-162371000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:162371000-162384000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:162371600-162372600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:162371600-162372600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:162371600-162372800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:162371800-162372600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:162371800-162372600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:162372200-162372600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:162372200-162372600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:162372200-162372600	Enhancers	Fetal Heart	heart
20	chr6:162372200-162372600	Enhancers	Right Atrium	heart
21	chr6:162372200-162372800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:162372400-162373000	Enhancers	Psoas Muscle	Psoas
23	chr6:162372400-162376000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:162372600-162375200	Weak transcription	Right Atrium	heart
25	chr6:162372600-162377000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:162372600-162377000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:162372600-162377000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:162372600-162377000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:162372600-162377000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:162372600-162377200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:162372800-162374600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:162374600-162374800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:162374600-162374800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:162374600-162374800	Enhancers	Gastric	stomach
35	chr6:162374600-162376400	Enhancers	Left Ventricle	heart
36	chr6:162374800-162375400	Enhancers	HSMMtube	muscle
37	chr6:162374800-162380400	Weak transcription	Gastric	stomach
38	chr6:162375000-162375200	Enhancers	Pancreas	Pancrea
39	chr6:162375200-162375600	Enhancers	Fetal Brain Female	brain
40	chr6:162375200-162376200	Enhancers	Right Atrium	heart
41	chr6:162375200-162377600	Enhancers	Ovary	ovary
42	chr6:162375200-162384800	Weak transcription	Pancreas	Pancrea
43	chr6:162375800-162376400	Enhancers	Right Ventricle	heart
44	chr6:162376000-162376200	Enhancers	Aorta	Aorta
45	chr6:162376000-162377600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:162376200-162380200	Weak transcription	Aorta	Aorta
47	chr6:162376200-162384200	Weak transcription	Right Atrium	heart
48	chr6:162376400-162379400	Weak transcription	Left Ventricle	heart
49	chr6:162376800-162377000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:162377000-162377400	Enhancers	H9 Cell Line	embryonic stem cell

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