Variant report

Variant	nsv1033603
Chromosome Location	chr6:161844266-162001436
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:53)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:161948248..161953523-chr6:161953771..161956538,5	K562	blood:
2	chr6:161917184..161919756-chr6:161920329..161923023,2	K562	blood:
3	chr6:161944005..161945740-chr6:161956110..161958693,2	MCF-7	breast:
4	chr6:161874908..161877099-chr6:161907040..161908685,2	K562	blood:
5	chr6:161962166..161963929-chr6:161965968..161968206,2	K562	blood:
6	chr6:161944005..161945740-chr6:161956110..161958693,2	MCF-7	breast:
7	chr6:161965795..161968097-chr6:161969436..161971580,2	K562	blood:
8	chr6:161906066..161907970-chr6:161910670..161913449,2	K562	blood:
9	chr6:161962166..161963929-chr6:161965968..161968206,2	K562	blood:
10	chr6:161814672..161815385-chr6:161919205..161920148,2	MCF-7	breast:
11	chr6:161966825..161970007-chr6:161974073..161976606,3	K562	blood:
12	chr6:161850853..161851797-chr6:161918921..161919717,2	MCF-7	breast:
13	chr6:161874908..161877099-chr6:161907040..161908685,2	K562	blood:
14	chr6:161964543..161966481-chr6:161967748..161969351,2	K562	blood:
15	chr3:161087670..161090609-chr6:161855286..161856788,2	MCF-7	breast:
16	chr6:161864849..161867369-chr6:162020785..162023410,2	K562	blood:
17	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
18	chr6:161920614..161923541-chr6:161940128..161942185,2	K562	blood:
19	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
20	chr6:161872071..161873752-chr6:161879299..161881799,2	K562	blood:
21	chr6:161964543..161966481-chr6:161967748..161969351,2	K562	blood:
22	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
23	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
24	chr6:161872071..161873752-chr6:161879299..161881799,2	K562	blood:
25	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
26	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:
27	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
28	chr6:161948248..161953523-chr6:161953771..161956538,5	K562	blood:
29	chr6:161909061..161911218-chr6:161914313..161915879,2	K562	blood:
30	chr6:161954204..161956477-chr6:161958726..161961716,2	K562	blood:
31	chr6:161850853..161851797-chr6:161918921..161919717,2	MCF-7	breast:
32	chr6:161839144..161840001-chr6:161919199..161919993,2	MCF-7	breast:
33	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
34	chr6:161954204..161956477-chr6:161958726..161961716,2	K562	blood:
35	chr6:162000857..162002528-chr6:162026039..162027693,2	K562	blood:
36	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:
37	chr6:161860070..161861572-chr6:161862140..161863792,2	MCF-7	breast:
38	chr6:161860070..161861572-chr6:161862140..161863792,2	MCF-7	breast:
39	chr6:161826891..161829319-chr6:161893488..161895593,2	K562	blood:
40	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
41	chr6:161909061..161911218-chr6:161914313..161915879,2	K562	blood:
42	chr6:161917184..161919756-chr6:161920329..161923023,2	K562	blood:
43	chr6:161965795..161968097-chr6:161969436..161971580,2	K562	blood:
44	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:
45	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:
46	chr6:161906066..161907970-chr6:161910670..161913449,2	K562	blood:
47	chr6:161815002..161815512-chr6:161919264..161919910,2	K562	blood:
48	chr6:161966825..161970007-chr6:161974073..161976606,3	K562	blood:
49	chr5:153090609..153093589-chr6:161855798..161858427,3	MCF-7	breast:
50	chr6:161855223..161857273-chr6:161905432..161907491,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGPAT4-2	chr6:161984667-161986399	NONHSAT115940

No data

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 5744 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:5744 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549730707	chr6:161844273-161844274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182898443	chr6:161844290-161844291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527684052	chr6:161844297-161844298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73606951	chr6:161844317-161844318	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140861295	chr6:161844325-161844326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532277118	chr6:161844427-161844428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552473164	chr6:161844440-161844441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569054860	chr6:161844469-161844470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574764813	chr6:161844517-161844518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538526480	chr6:161844533-161844534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142616482	chr6:161844571-161844572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4624848	chr6:161844587-161844588	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187704576	chr6:161844588-161844589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115656615	chr6:161844608-161844609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192634068	chr6:161844621-161844622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570452058	chr6:161844628-161844629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539725441	chr6:161844630-161844631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374148927	chr6:161844691-161844692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556474995	chr6:161844707-161844708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576221563	chr6:161844710-161844711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375779340	chr6:161844780-161844781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150972307	chr6:161844803-161844804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555545428	chr6:161844844-161844845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184331213	chr6:161844963-161844964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35164999	chr6:161845054-161845055	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs55643049	chr6:161845109-161845110	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564300484	chr6:161845123-161845124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188636183	chr6:161845160-161845161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386707943	chr6:161845195-161845196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9346852	chr6:161845196-161845197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11960950	chr6:161845277-161845278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs140222071	chr6:161845305-161845306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548360802	chr6:161845317-161845318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56268660	chr6:161845369-161845370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370463282	chr6:161845415-161845416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568258630	chr6:161845426-161845427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192188530	chr6:161845450-161845451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547501480	chr6:161845494-161845495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373578581	chr6:161845513-161845514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368647090	chr6:161845530-161845531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184354265	chr6:161845547-161845548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145280302	chr6:161845548-161845549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569969066	chr6:161845591-161845592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537057272	chr6:161845615-161845616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535754535	chr6:161845627-161845628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555506191	chr6:161845634-161845635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572628900	chr6:161845737-161845738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534791800	chr6:161845784-161845785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201296990	chr6:161845814-161845815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372372664	chr6:161845817-161845818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161837400-161845600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:161839600-161845400	Weak transcription	HMEC	breast
3	chr6:161839800-161847000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:161840200-161844400	Weak transcription	Fetal Stomach	stomach
5	chr6:161843400-161846000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:161843600-161844800	Enhancers	Fetal Muscle Leg	muscle
7	chr6:161843600-161844800	Enhancers	NHDF-Ad	bronchial
8	chr6:161843600-161846400	Enhancers	HSMM	muscle
9	chr6:161843800-161844400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:161843800-161844600	Enhancers	Brain Hippocampus Middle	brain
11	chr6:161843800-161844600	Enhancers	Psoas Muscle	Psoas
12	chr6:161843800-161844800	Enhancers	Fetal Kidney	kidney
13	chr6:161843800-161845000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:161843800-161845200	Enhancers	Aorta	Aorta
15	chr6:161843800-161846000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr6:161843800-161846000	Enhancers	HSMMtube	muscle
17	chr6:161844000-161844400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:161844000-161844400	Enhancers	Osteobl	bone
19	chr6:161844000-161844600	Weak transcription	Left Ventricle	heart
20	chr6:161844000-161844600	Enhancers	A549	lung
21	chr6:161844000-161845600	Weak transcription	NHEK	skin
22	chr6:161844200-161844600	Enhancers	Right Ventricle	heart
23	chr6:161844200-161844800	Enhancers	Lung	lung
24	chr6:161844200-161844800	Enhancers	Pancreas	Pancrea
25	chr6:161844200-161845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:161844400-161844800	Enhancers	Fetal Stomach	stomach
27	chr6:161844400-161844800	Enhancers	Spleen	Spleen
28	chr6:161844600-161844800	Enhancers	Left Ventricle	heart
29	chr6:161844600-161845600	Weak transcription	Psoas Muscle	Psoas
30	chr6:161844600-161845600	Weak transcription	Right Ventricle	heart
31	chr6:161844800-161845600	Weak transcription	Left Ventricle	heart
32	chr6:161844800-161845600	Weak transcription	NHDF-Ad	bronchial
33	chr6:161845000-161845400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:161845400-161846200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:161845400-161846400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr6:161845400-161846600	Enhancers	HMEC	breast
37	chr6:161845600-161845800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:161845600-161845800	Enhancers	Left Ventricle	heart
39	chr6:161845600-161845800	Enhancers	Psoas Muscle	Psoas
40	chr6:161845600-161845800	Enhancers	Right Ventricle	heart
41	chr6:161845600-161845800	Enhancers	NHDF-Ad	bronchial
42	chr6:161845600-161846000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:161845600-161846000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:161845600-161846000	Enhancers	NHEK	skin
45	chr6:161846000-161848600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:161846200-161855200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:161846400-161848600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:161846400-161855200	Weak transcription	HSMM	muscle
49	chr6:161848600-161849000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr6:161848600-161849600	Enhancers	Skeletal Muscle Male	skeletal muscle

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