Variant report

Variant	esv3397816
Chromosome Location	chr6:114064184-114066207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2463310	chr6:114064232-114064233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186380054	chr6:114064234-114064235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140400598	chr6:114064248-114064249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376155240	chr6:114064249-114064250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199696815	chr6:114064251-114064252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570143740	chr6:114064257-114064258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72956699	chr6:114064269-114064270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552887007	chr6:114064297-114064298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569101111	chr6:114064309-114064310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191235631	chr6:114064310-114064311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7751937	chr6:114064353-114064354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs553045890	chr6:114064368-114064369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182649162	chr6:114064386-114064387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12199946	chr6:114064389-114064390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374846629	chr6:114064390-114064391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550559680	chr6:114064408-114064409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554795811	chr6:114064437-114064438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111845497	chr6:114064440-114064441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543348204	chr6:114064456-114064457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62416036	chr6:114064499-114064500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558444461	chr6:114064513-114064514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576701672	chr6:114064514-114064515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541027276	chr6:114064532-114064533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559074641	chr6:114064544-114064545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372651402	chr6:114064545-114064546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12201465	chr6:114064571-114064572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534023453	chr6:114064574-114064575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563904730	chr6:114064575-114064576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555394966	chr6:114064579-114064580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12201470	chr6:114064590-114064591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552774719	chr6:114064595-114064596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573906443	chr6:114064610-114064611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564772898	chr6:114064612-114064613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528754951	chr6:114064623-114064624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547013632	chr6:114064673-114064674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7756389	chr6:114064674-114064675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556598781	chr6:114064686-114064687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535973734	chr6:114064687-114064688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578181301	chr6:114064702-114064703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545516559	chr6:114064710-114064711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557725374	chr6:114064719-114064720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565824431	chr6:114064724-114064725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113402015	chr6:114064725-114064726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59173882	chr6:114064734-114064735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67034016	chr6:114064752-114064753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578153695	chr6:114064753-114064754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550783110	chr6:114064779-114064780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369172061	chr6:114064788-114064789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572899039	chr6:114064824-114064825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540336004	chr6:114064825-114064826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Leukemia	18688285	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	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
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114062800-114064200	Enhancers	Fetal Heart	heart
2	chr6:114064000-114065800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:114064200-114066200	Weak transcription	Fetal Heart	heart
4	chr6:114065000-114067800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:114065800-114066000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:114065800-114066400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr6:114065800-114066400	Enhancers	Fetal Lung	lung
8	chr6:114065800-114066400	Enhancers	Fetal Muscle Leg	muscle
9	chr6:114065800-114066400	Enhancers	Placenta	Placenta
10	chr6:114065800-114066400	Enhancers	HepG2	liver
11	chr6:114065800-114066800	Enhancers	Adipose Nuclei	Adipose
12	chr6:114065800-114067200	Enhancers	Psoas Muscle	Psoas
13	chr6:114065800-114067200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:114066000-114066400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:114066000-114066600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:114066000-114066800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:114066000-114067000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:114066000-114067200	Enhancers	Colon Smooth Muscle	Colon
19	chr6:114066000-114067200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:114066200-114066400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:114066200-114066600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:114066200-114067200	Enhancers	Fetal Heart	heart

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