Variant report

Variant	nsv981344
Chromosome Location	chr6:143566840-143579617
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:143380054..143383322-chr6:143570355..143572889,3	K562	blood:
2	chr6:143565573..143568221-chr6:143568963..143571778,2	MCF-7	breast:
3	chr6:143491869..143493964-chr6:143569722..143572485,2	K562	blood:
4	chr6:143565573..143568221-chr6:143568963..143571778,2	MCF-7	breast:
5	chr6:143553948..143556735-chr6:143570226..143572984,2	K562	blood:
6	chr6:143557083..143562017-chr6:143562858..143567253,5	K562	blood:
7	chr6:143568655..143572983-chr6:143580340..143584023,4	K562	blood:
8	chr6:143576278..143579011-chr6:143664006..143666118,2	K562	blood:
9	chr6:143578203..143580061-chr6:143580169..143582946,2	K562	blood:
10	chr6:143578191..143580326-chr6:143614788..143617612,2	K562	blood:
11	chr6:143563003..143565038-chr6:143566432..143569083,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146416	chromatin interactions

Extended variants
information (count: 457 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546698669	chr6:143566900-143566901	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544957792	chr6:143566928-143566929	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4895604	chr6:143566951-143566952	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551976770	chr6:143566998-143566999	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12207891	chr6:143567039-143567040	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551444172	chr6:143567053-143567054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs559998632	chr6:143567067-143567068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs142766917	chr6:143567090-143567091	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs371245119	chr6:143567095-143567096	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527238917	chr6:143567109-143567110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548724178	chr6:143567110-143567111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150182253	chr6:143567119-143567120	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs537732737	chr6:143567142-143567143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs181828786	chr6:143567171-143567172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs528934787	chr6:143567173-143567174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs138712086	chr6:143567203-143567204	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs186422398	chr6:143567204-143567205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs77192358	chr6:143567249-143567250	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs149389969	chr6:143567303-143567304	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs144721827	chr6:143567370-143567371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs66535157	chr6:143567409-143567410	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs397729445	chr6:143567420-143567421	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs188920468	chr6:143567438-143567439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs555462236	chr6:143567461-143567462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558336950	chr6:143567526-143567527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs115999970	chr6:143567533-143567534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544915234	chr6:143567549-143567550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs563213583	chr6:143567586-143567587	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs578185379	chr6:143567619-143567620	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545272343	chr6:143567658-143567659	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116356321	chr6:143567661-143567662	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527410236	chr6:143567667-143567668	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542740200	chr6:143567674-143567675	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9484715	chr6:143567731-143567732	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544070961	chr6:143567744-143567745	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143593961	chr6:143567745-143567746	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147225447	chr6:143567809-143567810	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116137362	chr6:143567831-143567832	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17629317	chr6:143567864-143567865	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181565890	chr6:143567880-143567881	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534015122	chr6:143567973-143567974	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555946794	chr6:143567990-143567991	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185312009	chr6:143568004-143568005	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538250600	chr6:143568043-143568044	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574776118	chr6:143568092-143568093	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs72990455	chr6:143568188-143568189	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs144213959	chr6:143568221-143568222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34630392	chr6:143568248-143568249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34692750	chr6:143568277-143568278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150729901	chr6:143568309-143568310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	21448237	CNVD
Autism	22495311	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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143527400-143578800	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:143535000-143568000	Weak transcription	Aorta	Aorta
3	chr6:143545400-143588800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:143546000-143576200	Weak transcription	HepG2	liver
5	chr6:143546200-143571200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:143550200-143570400	Weak transcription	Fetal Intestine Large	intestine
7	chr6:143554200-143581400	Weak transcription	Psoas Muscle	Psoas
8	chr6:143557600-143574000	Weak transcription	Left Ventricle	heart
9	chr6:143557600-143575200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:143557800-143567000	Weak transcription	Fetal Intestine Small	intestine
11	chr6:143562600-143567800	Weak transcription	Osteobl	bone
12	chr6:143562600-143574200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:143562600-143579000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:143563400-143577200	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:143563400-143579800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:143563600-143569600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:143563800-143569600	Weak transcription	Liver	Liver
18	chr6:143564200-143583000	Weak transcription	Pancreas	Pancrea
19	chr6:143565200-143569400	Weak transcription	NHEK	skin
20	chr6:143565200-143573800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:143565200-143579400	Weak transcription	Ovary	ovary
22	chr6:143565600-143568400	Weak transcription	Fetal Heart	heart
23	chr6:143565600-143570400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:143565600-143578200	Weak transcription	Esophagus	oesophagus
25	chr6:143566200-143570200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:143566200-143574600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:143566600-143567000	Genic enhancers	K562	blood
28	chr6:143566800-143567000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:143567000-143567600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:143567000-143567600	Weak transcription	K562	blood
31	chr6:143567000-143568200	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr6:143567600-143568000	Strong transcription	K562	blood
33	chr6:143567600-143571200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:143567800-143568200	Enhancers	Osteobl	bone
35	chr6:143568000-143568200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:143568000-143569600	Enhancers	Aorta	Aorta
37	chr6:143568000-143578000	Weak transcription	K562	blood
38	chr6:143568200-143569200	Enhancers	Stomach Smooth Muscle	stomach
39	chr6:143568200-143571000	Weak transcription	Fetal Intestine Small	intestine
40	chr6:143568400-143569400	Enhancers	Fetal Heart	heart
41	chr6:143568600-143571400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr6:143569000-143592000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:143569200-143586600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:143569400-143570000	Enhancers	NHEK	skin
45	chr6:143569600-143570000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:143569600-143573200	Strong transcription	Liver	Liver
47	chr6:143569600-143588600	Weak transcription	Aorta	Aorta
48	chr6:143570000-143581600	Weak transcription	NHEK	skin
49	chr6:143570200-143570600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:143570200-143571000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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