Variant report

Variant	nsv464089
Chromosome Location	chr6:162043005-162101178
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162052847..162055292-chr6:162059575..162062461,2	MCF-7	breast:
2	chr19:35885081..35886581-chr6:162062521..162064392,2	K562	blood:
3	chr6:162041107..162043997-chr6:162053743..162055556,2	K562	blood:
4	chr6:162057469..162059362-chr6:162068678..162070292,2	K562	blood:
5	chr6:162056640..162058918-chr6:162062226..162064429,2	K562	blood:
6	chr6:162056640..162058918-chr6:162062226..162064429,2	K562	blood:
7	chr6:162080897..162083173-chr6:162084992..162086582,2	K562	blood:
8	chr6:162052847..162055292-chr6:162059575..162062461,2	MCF-7	breast:
9	chr6:162064140..162064803-chr7:123198816..123199394,2	MCF-7	breast:
10	chr6:162075282..162077598-chr6:162078551..162080758,2	K562	blood:
11	chr6:162041107..162043997-chr6:162053743..162055556,2	K562	blood:
12	chr6:162080897..162083173-chr6:162084992..162086582,2	K562	blood:
13	chr6:162057469..162059362-chr6:162068678..162070292,2	K562	blood:
14	chr6:162075282..162077598-chr6:162078551..162080758,2	K562	blood:

No data

Extended variants
information (count: 1774 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1774 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9365309	chr6:162043005-162043006	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs200398648	chr6:162043011-162043012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527426600	chr6:162043046-162043047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192469651	chr6:162043067-162043068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560685376	chr6:162043091-162043092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9458319	chr6:162043100-162043101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs532718535	chr6:162043101-162043102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183850213	chr6:162043133-162043134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550070022	chr6:162043171-162043172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201322518	chr6:162043191-162043192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569980445	chr6:162043194-162043195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536068559	chr6:162043228-162043229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34990953	chr6:162043235-162043236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13195756	chr6:162043259-162043260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148584799	chr6:162043323-162043324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186657722	chr6:162043349-162043350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577084701	chr6:162043361-162043362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578074093	chr6:162043362-162043363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146055390	chr6:162043363-162043364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556516191	chr6:162043367-162043368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6927586	chr6:162043389-162043390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576283376	chr6:162043401-162043402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539325779	chr6:162043407-162043408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35345461	chr6:162043428-162043429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191112936	chr6:162043446-162043447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374295584	chr6:162043451-162043452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561772821	chr6:162043472-162043473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140091144	chr6:162043484-162043485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540729773	chr6:162043485-162043486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563797089	chr6:162043539-162043540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542993852	chr6:162043569-162043570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552781604	chr6:162043578-162043579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572690854	chr6:162043643-162043644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143663331	chr6:162043654-162043655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374839747	chr6:162043665-162043666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182575022	chr6:162043667-162043668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529594298	chr6:162043679-162043680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34350388	chr6:162043728-162043729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565274492	chr6:162043832-162043833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368683574	chr6:162043833-162043834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549642516	chr6:162043930-162043931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76774761	chr6:162043960-162043961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535175717	chr6:162043994-162043995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59966736	chr6:162044002-162044003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146489878	chr6:162044018-162044019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527716169	chr6:162044025-162044026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186895189	chr6:162044058-162044059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557422456	chr6:162044077-162044078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34396610	chr6:162044110-162044111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573966054	chr6:162044116-162044117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162017000-162045400	Weak transcription	Ovary	ovary
2	chr6:162040200-162043800	Weak transcription	Fetal Brain Female	brain
3	chr6:162040200-162044000	Weak transcription	Fetal Brain Male	brain
4	chr6:162040200-162044400	Weak transcription	Fetal Lung	lung
5	chr6:162040400-162044800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:162040400-162052000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:162041600-162043600	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:162043200-162043400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:162043600-162043800	Enhancers	Colon Smooth Muscle	Colon
10	chr6:162043600-162043800	Enhancers	Fetal Kidney	kidney
11	chr6:162043600-162043800	Enhancers	Rectal Smooth Muscle	rectum
12	chr6:162043600-162045000	Enhancers	Fetal Stomach	stomach
13	chr6:162043600-162046800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:162043800-162044200	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:162043800-162044400	Enhancers	Fetal Brain Female	brain
16	chr6:162043800-162044800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:162044000-162044800	Enhancers	Fetal Brain Male	brain
18	chr6:162044200-162044400	Enhancers	Fetal Muscle Leg	muscle
19	chr6:162044200-162046000	Enhancers	Colon Smooth Muscle	Colon
20	chr6:162044400-162045400	Weak transcription	Fetal Brain Female	brain
21	chr6:162044400-162045400	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:162044400-162045800	Enhancers	Fetal Lung	lung
23	chr6:162044600-162044800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr6:162044600-162045000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:162044800-162045400	Enhancers	Stomach Smooth Muscle	stomach
26	chr6:162044800-162045600	Enhancers	Rectal Smooth Muscle	rectum
27	chr6:162045200-162045800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:162045400-162045600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:162045400-162045600	Enhancers	Fetal Brain Female	brain
30	chr6:162045400-162045600	Enhancers	Ovary	ovary
31	chr6:162045400-162045800	Enhancers	Fetal Muscle Leg	muscle
32	chr6:162045400-162047000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:162045600-162046000	Enhancers	Fetal Kidney	kidney
34	chr6:162045600-162046800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:162046000-162046400	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:162046400-162048000	Enhancers	Colon Smooth Muscle	Colon
37	chr6:162046800-162047800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:162046800-162047800	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:162047000-162047400	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr6:162047000-162048000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:162047400-162047600	Active TSS	Stomach Smooth Muscle	stomach
42	chr6:162047400-162047800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr6:162047600-162047800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr6:162048000-162048200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr6:162048000-162051600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:162048000-162052000	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:162050400-162050600	Enhancers	Right Atrium	heart
48	chr6:162050600-162051000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:162050600-162052000	Weak transcription	Right Atrium	heart
50	chr6:162051000-162051400	Enhancers	Cortex derived primary cultured neurospheres	brain

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