Variant report

Variant	esv3422773
Chromosome Location	chr6:58264493-58270291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 224 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548606729	chr6:58264496-58264497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374645639	chr6:58264515-58264516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566931368	chr6:58264536-58264537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537499658	chr6:58264546-58264547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556247675	chr6:58264557-58264558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571716658	chr6:58264563-58264564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539258292	chr6:58264568-58264569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554483719	chr6:58264603-58264604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572823861	chr6:58264607-58264608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552616099	chr6:58264657-58264658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138557007	chr6:58264669-58264670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554963459	chr6:58264724-58264725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576526381	chr6:58264726-58264727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12207196	chr6:58264780-58264781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565411446	chr6:58264781-58264782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532960779	chr6:58264784-58264785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146109041	chr6:58264785-58264786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560004476	chr6:58264809-58264810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10080862	chr6:58264839-58264840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527540923	chr6:58264841-58264842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548870191	chr6:58264878-58264879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566896056	chr6:58264897-58264898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531353616	chr6:58264927-58264928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10080673	chr6:58264944-58264945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201879481	chr6:58264959-58264960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571350977	chr6:58264989-58264990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538857130	chr6:58264991-58264992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554448924	chr6:58265025-58265026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200288932	chr6:58265048-58265049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34700500	chr6:58265067-58265068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566287313	chr6:58265068-58265069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201138187	chr6:58265089-58265090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199535426	chr6:58265106-58265107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9391382	chr6:58265128-58265129	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs576340134	chr6:58265174-58265175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543824457	chr6:58265229-58265230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558780263	chr6:58265235-58265236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10081016	chr6:58265246-58265247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112816571	chr6:58265280-58265281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577307424	chr6:58265312-58265313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541175048	chr6:58265323-58265324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559867702	chr6:58265329-58265330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142215126	chr6:58265343-58265344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144846729	chr6:58265356-58265357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200383127	chr6:58265367-58265368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560884086	chr6:58265380-58265381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148503739	chr6:58265386-58265387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575018336	chr6:58265397-58265398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17488291	chr6:58265398-58265399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs532193832	chr6:58265405-58265406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	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
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58243000-58272800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:58244000-58272400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:58244200-58287200	Weak transcription	Right Ventricle	heart
4	chr6:58244400-58272600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:58244800-58273000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:58245800-58272400	Weak transcription	Fetal Brain Female	brain
7	chr6:58245800-58272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:58245800-58275000	Weak transcription	Brain Angular Gyrus	brain
9	chr6:58247200-58272400	Weak transcription	Left Ventricle	heart
10	chr6:58247200-58273200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr6:58248800-58272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:58250800-58272400	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:58250800-58275000	Weak transcription	Gastric	stomach
14	chr6:58250800-58287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:58251000-58272400	Weak transcription	Spleen	Spleen
16	chr6:58251200-58272400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:58251200-58272400	Weak transcription	Liver	Liver
18	chr6:58255200-58272400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr6:58261400-58286600	Weak transcription	Brain Germinal Matrix	brain
20	chr6:58264200-58272600	Weak transcription	Fetal Stomach	stomach
21	chr6:58265200-58265400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:58265400-58272400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:58267400-58267600	Active TSS	Thymus	Thymus
24	chr6:58267400-58272600	Weak transcription	Aorta	Aorta
25	chr6:58267600-58272400	Weak transcription	Thymus	Thymus
26	chr6:58267800-58273000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:58268200-58272400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:58268200-58272400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:58268200-58272800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:58268600-58274800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:58269400-58272400	Weak transcription	Adipose Nuclei	Adipose
32	chr6:58269600-58272000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:58269600-58273000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:58269600-58273000	Weak transcription	Dnd41	blood
35	chr6:58269800-58272400	Weak transcription	Ovary	ovary
36	chr6:58270000-58272400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:58270000-58272600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:58270000-58285800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:58270200-58272400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:58270200-58272400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr6:58270200-58272600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr6:58270200-58273000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:58270200-58287200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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