Variant report

Variant	nsv5567
Chromosome Location	chr6:160996906-161084659
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:
2	chr6:161019352..161022051-chr6:161023813..161026327,2	K562	blood:
3	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:
4	chr6:161019352..161022051-chr6:161023813..161026327,2	K562	blood:
5	chr6:160940997..160941666-chr6:160999443..161000039,2	K562	blood:
6	chr6:161080728..161083245-chr6:161087740..161089889,2	MCF-7	breast:
7	chr6:161004456..161005962-chr6:161009319..161011113,2	K562	blood:
8	chr6:161004456..161005962-chr6:161009319..161011113,2	K562	blood:
9	chr6:160939489..160941375-chr6:160998330..161000013,2	K562	blood:

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

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

No data

Extended variants
information (count: 3022 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:3022 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530042519	chr6:160996907-160996908	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76852953	chr6:160996911-160996912	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149414862	chr6:160996971-160996972	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143810196	chr6:160997024-160997025	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138569351	chr6:160997062-160997063	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568968293	chr6:160997068-160997069	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74617384	chr6:160997118-160997119	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75482932	chr6:160997164-160997165	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575024754	chr6:160997196-160997197	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534183187	chr6:160997199-160997200	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78733124	chr6:160997236-160997237	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576789742	chr6:160997237-160997238	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368420728	chr6:160997349-160997350	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530223802	chr6:160997353-160997354	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200907367	chr6:160997359-160997360	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184110036	chr6:160997366-160997367	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376193993	chr6:160997367-160997368	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185841426	chr6:160997368-160997369	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201574400	chr6:160997370-160997371	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9355293	chr6:160997374-160997375	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13211941	chr6:160997385-160997386	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71542980	chr6:160997390-160997391	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13193251	chr6:160997399-160997400	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13208756	chr6:160997406-160997407	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71558050	chr6:160997414-160997415	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71033583	chr6:160997415-160997416	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9347417	chr6:160997416-160997417	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59147424	chr6:160997417-160997418	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372394746	chr6:160997418-160997419	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375349356	chr6:160997420-160997421	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9346822	chr6:160997421-160997422	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9365175	chr6:160997422-160997423	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141952652	chr6:160997424-160997425	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71551159	chr6:160997428-160997429	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140486548	chr6:160997436-160997437	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57921799	chr6:160997439-160997440	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182620039	chr6:160997442-160997443	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201428306	chr6:160997447-160997448	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71732840	chr6:160997448-160997449	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9355294	chr6:160997449-160997450	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187324520	chr6:160997450-160997451	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71542981	chr6:160997464-160997465	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9346823	chr6:160997532-160997533	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9347418	chr6:160997603-160997604	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372258559	chr6:160997606-160997607	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9456549	chr6:160997669-160997670	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369546569	chr6:160997703-160997704	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183659585	chr6:160997708-160997709	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs66755703	chr6:160997719-160997720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74598183	chr6:160997720-160997721	Strong transcription Weak transcription	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160990600-161032600	Strong transcription	Liver	Liver
2	chr6:160997200-161001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:161004400-161004800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:161004400-161005000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:161004400-161005000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:161004400-161005000	Enhancers	NHEK	skin
7	chr6:161004600-161005200	Enhancers	HMEC	breast
8	chr6:161005400-161008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:161008400-161009000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
10	chr6:161009000-161019200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:161017600-161018200	Active TSS	Aorta	Aorta
12	chr6:161018200-161018600	Enhancers	Aorta	Aorta
13	chr6:161019200-161022200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:161022200-161025000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:161025000-161026200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:161026200-161029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:161031200-161031800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
18	chr6:161031800-161032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:161032000-161032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:161032600-161034200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:161032600-161034400	Weak transcription	Liver	Liver
22	chr6:161055600-161056000	Active TSS	Fetal Heart	heart
23	chr6:161055600-161056000	ZNF genes & repeats	Stomach Mucosa	stomach
24	chr6:161055600-161056200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
25	chr6:161055800-161056000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
26	chr6:161055800-161056000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:161055800-161056000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:161055800-161056000	ZNF genes & repeats	Fetal Brain Male	brain
29	chr6:161055800-161056200	ZNF genes & repeats	Fetal Stomach	stomach
30	chr6:161056200-161069400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:161063400-161067800	Weak transcription	Liver	Liver
32	chr6:161067800-161072400	Strong transcription	Liver	Liver
33	chr6:161069400-161069800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
34	chr6:161069800-161071600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:161071600-161077000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:161072400-161073400	Weak transcription	Liver	Liver
37	chr6:161073400-161074800	Enhancers	Liver	Liver
38	chr6:161074800-161077600	Weak transcription	Liver	Liver
39	chr6:161077000-161077200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
40	chr6:161080200-161083000	Enhancers	Liver	Liver
41	chr6:161082200-161083600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr6:161082600-161082800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr6:161083000-161083200	Flanking Active TSS	Liver	Liver
44	chr6:161083200-161083400	Enhancers	Liver	Liver
45	chr6:161083400-161084200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:161083400-161085000	Flanking Active TSS	Liver	Liver
47	chr6:161083600-161083800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:161083600-161084200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:161084200-161086600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:161084200-161089800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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