Variant report

Variant	nsv969438
Chromosome Location	chr6:118028073-118031508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199793068	chr6:118028073-118028074	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs574276945	chr6:118028130-118028131	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs150953098	chr6:118028140-118028141	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs140791750	chr6:118028141-118028142	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs550676	chr6:118028145-118028146	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529109392	chr6:118028166-118028167	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs374139762	chr6:118028168-118028169	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs550858100	chr6:118028186-118028187	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs2355152	chr6:118028193-118028194	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs115511966	chr6:118028196-118028197	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs551952235	chr6:118028198-118028199	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs201923773	chr6:118028211-118028212	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs1052257	chr6:118028212-118028213	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4028839	chr6:118028225-118028226	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs1052258	chr6:118028246-118028247	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75648010	chr6:118028256-118028257	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568808909	chr6:118028268-118028269	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4028840	chr6:118028276-118028277	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs28414025	chr6:118028301-118028302	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs189173604	chr6:118028304-118028305	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs199562088	chr6:118028334-118028335	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs1052261	chr6:118028341-118028342	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs375623081	chr6:118028345-118028346	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs567506617	chr6:118028376-118028377	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs4028841	chr6:118028381-118028382	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs1052262	chr6:118028382-118028383	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs181113936	chr6:118028407-118028408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1052263	chr6:118028410-118028411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549936556	chr6:118028490-118028491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571153679	chr6:118028582-118028583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538322764	chr6:118028665-118028666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553483026	chr6:118028669-118028670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571825527	chr6:118028721-118028722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536218262	chr6:118028752-118028753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111934498	chr6:118028756-118028757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554273676	chr6:118028979-118028980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533849534	chr6:118029013-118029014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186506619	chr6:118029051-118029052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191820088	chr6:118029057-118029058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199708785	chr6:118029072-118029073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374812254	chr6:118029073-118029074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11548270	chr6:118029078-118029079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556793525	chr6:118029086-118029087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578232105	chr6:118029118-118029119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376741004	chr6:118029141-118029142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545504990	chr6:118029253-118029254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560541518	chr6:118029326-118029327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1053068	chr6:118029336-118029337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1053070	chr6:118029340-118029341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181685650	chr6:118029345-118029346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117999000-118039800	Weak transcription	Gastric	stomach
2	chr6:117999000-118042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:117999200-118028200	Weak transcription	Hela-S3	cervix
4	chr6:117999200-118029600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:118000800-118029400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:118008800-118029600	Weak transcription	Colonic Mucosa	Colon
7	chr6:118009400-118039800	Weak transcription	Small Intestine	intestine
8	chr6:118012600-118039600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:118014400-118029000	Weak transcription	A549	lung
10	chr6:118015600-118030200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:118016600-118029400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:118016600-118040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:118016800-118028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:118016800-118029400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:118016800-118032400	Weak transcription	Fetal Stomach	stomach
16	chr6:118017000-118029800	Weak transcription	Brain Substantia Nigra	brain
17	chr6:118017000-118033200	Weak transcription	Fetal Intestine Small	intestine
18	chr6:118017000-118040000	Weak transcription	Pancreas	Pancrea
19	chr6:118017600-118029400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:118017800-118029400	Weak transcription	Fetal Brain Male	brain
21	chr6:118018000-118029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:118018000-118029600	Weak transcription	Psoas Muscle	Psoas
23	chr6:118021600-118028400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:118021600-118032600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:118021800-118028400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:118021800-118028400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:118022600-118028200	Strong transcription	HepG2	liver
28	chr6:118022800-118028200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:118022800-118028200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:118022800-118028400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:118022800-118028400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:118022800-118028400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:118023000-118028200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:118023000-118028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:118023000-118028200	Strong transcription	Primary T cells from cord blood	blood
36	chr6:118023000-118028200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr6:118023000-118028200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:118023000-118028200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:118023000-118028200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:118023000-118028200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:118023000-118028200	Strong transcription	Adipose Nuclei	Adipose
42	chr6:118023000-118028400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:118023000-118028400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:118023000-118028400	Strong transcription	Dnd41	blood
45	chr6:118023200-118028200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:118023200-118028200	Strong transcription	Fetal Thymus	thymus
47	chr6:118023200-118028400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:118023200-118028400	Strong transcription	Liver	Liver
49	chr6:118023200-118028400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr6:118023200-118028400	Strong transcription	K562	blood

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