Variant report

Variant	nsv830852
Chromosome Location	chr6:160992558-161065940
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:
2	chr6:161004456..161005962-chr6:161009319..161011113,2	K562	blood:
3	chr6:161019352..161022051-chr6:161023813..161026327,2	K562	blood:
4	chr6:161019352..161022051-chr6:161023813..161026327,2	K562	blood:
5	chr6:161004456..161005962-chr6:161009319..161011113,2	K562	blood:
6	chr6:160940997..160941666-chr6:160999443..161000039,2	K562	blood:
7	chr6:160939489..160941375-chr6:160998330..161000013,2	K562	blood:
8	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLG-2	chr6:161041576-161041654	NONHSAT115908
2	lnc-PLG-2	chr6:161039310-161039522	NONHSAT115908

No data

Extended variants
information (count: 2441 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2441 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188230221	chr6:160992590-160992591	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560295193	chr6:160992603-160992604	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546038139	chr6:160992659-160992660	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs562748965	chr6:160992663-160992664	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs572113710	chr6:160992684-160992685	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs9456548	chr6:160992690-160992691	Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529335625	chr6:160992731-160992732	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs41264304	chr6:160992741-160992742	Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs41264302	chr6:160992742-160992743	Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181039552	chr6:160992761-160992762	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs186545575	chr6:160992772-160992773	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539629590	chr6:160992774-160992775	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs549992638	chr6:160992893-160992894	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570014100	chr6:160992894-160992895	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536188126	chr6:160992905-160992906	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555798588	chr6:160992906-160992907	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572358017	chr6:160992923-160992924	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs531828992	chr6:160992940-160992941	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139249080	chr6:160992949-160992950	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs550047707	chr6:160992981-160992982	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191001081	chr6:160992983-160992984	Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546015836	chr6:160993080-160993081	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181412912	chr6:160993123-160993124	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs41264300	chr6:160993124-160993125	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113305865	chr6:160993138-160993139	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569207175	chr6:160993139-160993140	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538102265	chr6:160993144-160993145	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185740472	chr6:160993169-160993170	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372467175	chr6:160993172-160993173	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534041525	chr6:160993199-160993200	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554331129	chr6:160993200-160993201	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527244998	chr6:160993261-160993262	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540657819	chr6:160993268-160993269	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147266080	chr6:160993309-160993310	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532911072	chr6:160993317-160993318	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374139325	chr6:160993328-160993329	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569877290	chr6:160993333-160993334	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368892254	chr6:160993398-160993399	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112136128	chr6:160993409-160993410	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190599916	chr6:160993423-160993424	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183177273	chr6:160993430-160993431	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187909501	chr6:160993437-160993438	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551622317	chr6:160993440-160993441	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs41264298	chr6:160993443-160993444	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73594879	chr6:160993457-160993458	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs34193226	chr6:160993483-160993484	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571417999	chr6:160993495-160993496	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372116495	chr6:160993499-160993500	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575864877	chr6:160993501-160993502	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144735676	chr6:160993519-160993520	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Breast cancer	22522925	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
Carotid artery disease	21127300	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160990600-161032600	Strong transcription	Liver	Liver
2	chr6:160992000-160992600	Enhancers	K562	blood
3	chr6:160992600-160993000	Flanking Active TSS	K562	blood
4	chr6:160993000-160996000	Enhancers	K562	blood
5	chr6:160997200-161001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:161004400-161004800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:161004400-161005000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:161004400-161005000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:161004400-161005000	Enhancers	NHEK	skin
10	chr6:161004600-161005200	Enhancers	HMEC	breast
11	chr6:161005400-161008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:161008400-161009000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr6:161009000-161019200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:161017600-161018200	Active TSS	Aorta	Aorta
15	chr6:161018200-161018600	Enhancers	Aorta	Aorta
16	chr6:161019200-161022200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:161022200-161025000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:161025000-161026200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:161026200-161029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:161031200-161031800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
21	chr6:161031800-161032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:161032000-161032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:161032600-161034200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:161032600-161034400	Weak transcription	Liver	Liver
25	chr6:161055600-161056000	Active TSS	Fetal Heart	heart
26	chr6:161055600-161056000	ZNF genes & repeats	Stomach Mucosa	stomach
27	chr6:161055600-161056200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
28	chr6:161055800-161056000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
29	chr6:161055800-161056000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:161055800-161056000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:161055800-161056000	ZNF genes & repeats	Fetal Brain Male	brain
32	chr6:161055800-161056200	ZNF genes & repeats	Fetal Stomach	stomach
33	chr6:161056200-161069400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:161063400-161067800	Weak transcription	Liver	Liver

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