Variant report

Variant	nsv1034992
Chromosome Location	chr6:119512657-119540895
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119525280..119527680-chr6:119553192..119555553,2	MCF-7	breast:
2	chr6:119511695..119514297-chr6:119634255..119636425,2	K562	blood:
3	chr6:119526535..119530412-chr6:119531327..119536580,5	K562	blood:
4	chr6:119539721..119541737-chr6:119545177..119547748,2	K562	blood:
5	chr6:119522096..119523840-chr6:119525626..119529116,3	K562	blood:
6	chr6:119510956..119512728-chr6:119517254..119518808,2	MCF-7	breast:
7	chr6:119521433..119523698-chr6:119527241..119529116,2	K562	blood:
8	chr6:119506358..119507997-chr6:119521018..119522691,2	MCF-7	breast:
9	chr6:119524327..119526226-chr6:119528341..119530598,2	K562	blood:
10	chr6:119526535..119530412-chr6:119531327..119536580,5	K562	blood:
11	chr6:119509157..119512437-chr6:119515182..119517174,3	MCF-7	breast:
12	chr6:119537308..119539854-chr6:119540382..119542947,2	K562	blood:
13	chr6:119521433..119523698-chr6:119527241..119529116,2	K562	blood:
14	chr6:119510956..119512728-chr6:119517254..119518808,2	MCF-7	breast:
15	chr6:119531878..119534156-chr6:119544233..119546435,2	K562	blood:
16	chr6:119494532..119497105-chr6:119519039..119521692,2	K562	blood:
17	chr6:119506495..119510474-chr6:119512105..119518415,7	K562	blood:
18	chr6:119524327..119526226-chr6:119528341..119530598,2	K562	blood:
19	chr6:119537308..119539854-chr6:119540382..119542947,2	K562	blood:
20	chr6:119522096..119523840-chr6:119525626..119529116,3	K562	blood:

No data

Extended variants
information (count: 1141 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:1141 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2299872	chr6:119512657-119512658	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186413813	chr6:119512672-119512673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374701277	chr6:119512714-119512715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2299873	chr6:119512722-119512723	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2299874	chr6:119512746-119512747	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189891473	chr6:119512790-119512791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147220290	chr6:119512793-119512794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2299875	chr6:119512808-119512809	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs116767046	chr6:119512838-119512839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564432580	chr6:119512869-119512870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140660479	chr6:119512924-119512925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182366736	chr6:119512935-119512936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188361698	chr6:119512947-119512948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4946402	chr6:119512961-119512962	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4946403	chr6:119512985-119512986	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553696593	chr6:119513038-119513039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57980534	chr6:119513089-119513090	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142691504	chr6:119513133-119513134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544107067	chr6:119513148-119513149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11403247	chr6:119513158-119513159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397817890	chr6:119513162-119513163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78558267	chr6:119513163-119513164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4946404	chr6:119513204-119513205	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532717163	chr6:119513243-119513244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79376304	chr6:119513251-119513252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117072574	chr6:119513271-119513272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533366982	chr6:119513276-119513277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9372524	chr6:119513310-119513311	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375793495	chr6:119513349-119513350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191053944	chr6:119513350-119513351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17513883	chr6:119513360-119513361	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569215025	chr6:119513442-119513443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549638719	chr6:119513460-119513461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114081506	chr6:119513496-119513497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550324660	chr6:119513529-119513530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13200504	chr6:119513599-119513600	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs726727	chr6:119513690-119513691	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183195661	chr6:119513772-119513773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574376275	chr6:119513776-119513777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs726726	chr6:119513821-119513822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116148103	chr6:119513839-119513840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17442112	chr6:119513882-119513883	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs200770036	chr6:119513922-119513923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368661834	chr6:119513991-119513992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549633067	chr6:119514005-119514006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187463104	chr6:119514042-119514043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192074533	chr6:119514048-119514049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563929466	chr6:119514065-119514066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577617294	chr6:119514080-119514081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35975868	chr6:119514111-119514112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119491800-119531200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:119492200-119527800	Weak transcription	NHEK	skin
3	chr6:119492400-119524200	Weak transcription	Fetal Stomach	stomach
4	chr6:119493600-119518000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:119494000-119523600	Weak transcription	GM12878-XiMat	blood
6	chr6:119494600-119547400	Weak transcription	Esophagus	oesophagus
7	chr6:119494800-119526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:119495400-119522000	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:119495600-119522200	Weak transcription	Fetal Kidney	kidney
10	chr6:119497000-119524000	Weak transcription	NHLF	lung
11	chr6:119497000-119524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:119497000-119524400	Weak transcription	Small Intestine	intestine
13	chr6:119497200-119518600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:119498000-119536600	Weak transcription	Fetal Heart	heart
15	chr6:119498200-119527400	Strong transcription	Liver	Liver
16	chr6:119498600-119517600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:119498600-119531400	Strong transcription	HepG2	liver
18	chr6:119498800-119526800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:119499000-119517200	Strong transcription	Primary hematopoietic stem cells	blood
20	chr6:119499400-119516200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:119499400-119518200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:119499400-119525400	Weak transcription	NH-A	brain
23	chr6:119499600-119524000	Weak transcription	Brain Anterior Caudate	brain
24	chr6:119499800-119524400	Weak transcription	Right Ventricle	heart
25	chr6:119500800-119515800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:119501200-119522200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:119501600-119513200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:119501600-119515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:119501600-119518000	Weak transcription	Thymus	Thymus
30	chr6:119501600-119524200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:119502000-119515400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:119502000-119523800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:119502000-119523800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:119502400-119525800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:119502600-119526800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:119503400-119539800	Weak transcription	Gastric	stomach
37	chr6:119503800-119524200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:119504200-119515400	Strong transcription	Fetal Intestine Large	intestine
39	chr6:119504600-119519400	Strong transcription	Adipose Nuclei	Adipose
40	chr6:119504800-119515200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:119505200-119515400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr6:119505200-119527400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:119505400-119518800	Weak transcription	Brain Substantia Nigra	brain
44	chr6:119505600-119518600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:119505800-119524000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:119506400-119513200	Strong transcription	K562	blood
47	chr6:119506800-119530800	Weak transcription	Stomach Mucosa	stomach
48	chr6:119507400-119515000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr6:119507800-119514400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:119507800-119525000	Weak transcription	Osteobl	bone

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