Variant report

Variant	nsv464037
Chromosome Location	chr6:121261915-121400981
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:121400057..121403003-chr6:121403745..121405643,2	K562	blood:
2	chr6:121376435..121377426-chr6:121544734..121545558,2	MCF-7	breast:
3	chr6:121393095..121394934-chr6:121401987..121403872,2	MCF-7	breast:
4	chr6:121395589..121397315-chr6:121403904..121405742,2	K562	blood:
5	chr6:121376109..121377626-chr6:121543516..121544370,7	MCF-7	breast:
6	chr6:121376879..121377380-chr6:121543841..121544431,2	K562	blood:
7	chr6:121359776..121362042-chr7:45978635..45981632,2	MCF-7	breast:
8	chr6:121370528..121372083-chr6:121382046..121383647,2	K562	blood:
9	chr6:121376484..121377440-chr6:121626832..121627562,3	MCF-7	breast:
10	chr6:121370528..121372083-chr6:121382046..121383647,2	K562	blood:
11	chr6:121376496..121377369-chr6:121557870..121558396,2	MCF-7	breast:
12	chr6:121399181..121401952-chr6:121402264..121404345,2	K562	blood:
13	chr6:121376496..121377167-chr6:121721914..121722620,2	K562	blood:
14	chr6:121295924..121297821-chr6:121298707..121301135,2	K562	blood:
15	chr17:4138428..4139347-chr6:121298553..121299157,2	MCF-7	breast:
16	chr6:121394181..121397153-chr6:121399643..121401552,2	K562	blood:
17	chr6:121377193..121378906-chr6:121509031..121511609,2	MCF-7	breast:
18	chr6:121376783..121377622-chr6:121626950..121627772,3	MCF-7	breast:
19	chr6:120727203..120727781-chr6:121331449..121332021,2	MCF-7	breast:
20	chr6:121394181..121397153-chr6:121399643..121401552,2	K562	blood:
21	chr6:121376454..121377382-chr6:121626851..121627812,5	K562	blood:
22	chr6:121295924..121297821-chr6:121298707..121301135,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146350	chromatin interactions

Extended variants
information (count: 2237 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:2237 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9320780	chr6:121261915-121261916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11153973	chr6:121261930-121261931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9490085	chr6:121261932-121261933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs536239283	chr6:121261996-121261997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556187387	chr6:121261997-121261998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9490086	chr6:121262107-121262108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117963064	chr6:121262108-121262109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546382009	chr6:121262196-121262197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140440036	chr6:121262224-121262225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9490087	chr6:121262226-121262227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577769211	chr6:121262261-121262262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191524384	chr6:121262267-121262268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560182263	chr6:121262276-121262277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573826983	chr6:121262278-121262279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542622623	chr6:121262388-121262389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150415703	chr6:121262436-121262437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9490088	chr6:121262440-121262441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183742945	chr6:121262519-121262520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17082925	chr6:121262524-121262525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539465025	chr6:121262531-121262532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9490089	chr6:121262541-121262542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs17082930	chr6:121262607-121262608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567421012	chr6:121262682-121262683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9482102	chr6:121262710-121262711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549726833	chr6:121262720-121262721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112750627	chr6:121262727-121262728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188277179	chr6:121262969-121262970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193283894	chr6:121262972-121262973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571490880	chr6:121262973-121262974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533988286	chr6:121262987-121262988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61402672	chr6:121262994-121262995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140577441	chr6:121262999-121263000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370170920	chr6:121263048-121263049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541102006	chr6:121263077-121263078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554432068	chr6:121263111-121263112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185497594	chr6:121263134-121263135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112183726	chr6:121263137-121263138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189620141	chr6:121263149-121263150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17082935	chr6:121263324-121263325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556169588	chr6:121263339-121263340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9372631	chr6:121263356-121263357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545338304	chr6:121263365-121263366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565565449	chr6:121263409-121263410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528025392	chr6:121263432-121263433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138375198	chr6:121263442-121263443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142472810	chr6:121263472-121263473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558238395	chr6:121263485-121263486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191422049	chr6:121263491-121263492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144137860	chr6:121263562-121263563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146585628	chr6:121263626-121263627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121261200-121262000	Enhancers	Stomach Mucosa	stomach
2	chr6:121261600-121262000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:121262000-121265000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:121265000-121265400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:121267000-121267600	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:121268000-121269200	Enhancers	Liver	Liver
7	chr6:121271400-121272400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:121272400-121272600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:121272600-121274000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:121272600-121274400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:121274000-121275200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:121274400-121274600	Enhancers	Gastric	stomach
13	chr6:121282200-121282600	Enhancers	Stomach Mucosa	stomach
14	chr6:121286800-121287800	Enhancers	Stomach Mucosa	stomach
15	chr6:121303000-121303800	Enhancers	Liver	Liver
16	chr6:121308800-121311200	Weak transcription	Pancreas	Pancrea
17	chr6:121313600-121314400	Enhancers	Liver	Liver
18	chr6:121314400-121314800	Flanking Active TSS	Liver	Liver
19	chr6:121314400-121316000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:121314800-121316200	Enhancers	Liver	Liver
21	chr6:121316200-121319600	Weak transcription	Liver	Liver
22	chr6:121319600-121320000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:121319600-121320200	Active TSS	Liver	Liver
24	chr6:121319800-121320200	Active TSS	Dnd41	blood
25	chr6:121319800-121320200	Active TSS	Hela-S3	cervix
26	chr6:121319800-121320200	Active TSS	Osteobl	bone
27	chr6:121319800-121320600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:121320000-121320200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:121320200-121320400	Enhancers	Hela-S3	cervix
30	chr6:121320200-121320600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:121320600-121321000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:121320600-121321000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:121320600-121322400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:121321000-121322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:121321000-121322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:121321800-121322200	Enhancers	Primary hematopoietic stem cells	blood
37	chr6:121322400-121324000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:121324000-121325200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:121329600-121330400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:121342200-121342800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:121353200-121354000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr6:121353400-121353800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:121354000-121358800	Weak transcription	Pancreas	Pancrea
44	chr6:121357200-121359000	Enhancers	Stomach Mucosa	stomach
45	chr6:121358800-121359000	ZNF genes & repeats	Pancreas	Pancrea
46	chr6:121359000-121363000	Weak transcription	Stomach Mucosa	stomach
47	chr6:121359000-121364000	Weak transcription	Pancreas	Pancrea
48	chr6:121361800-121362200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr6:121362200-121364400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr6:121363000-121364400	Enhancers	Stomach Mucosa	stomach

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