Variant report

Variant	nsv965801
Chromosome Location	chr6:58245868-58246759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542182959	chr6:58245877-58245878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529678479	chr6:58245880-58245881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549416843	chr6:58245941-58245942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563578482	chr6:58245948-58245949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575682970	chr6:58245951-58245952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142558056	chr6:58245959-58245960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564262511	chr6:58245988-58245989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6918567	chr6:58246055-58246056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs6930828	chr6:58246056-58246057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs559203365	chr6:58246081-58246082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529993076	chr6:58246122-58246123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183713983	chr6:58246136-58246137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12212986	chr6:58246140-58246141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6931014	chr6:58246143-58246144	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs537051618	chr6:58246218-58246219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552270941	chr6:58246226-58246227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374079433	chr6:58246295-58246296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189104191	chr6:58246319-58246320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535213153	chr6:58246330-58246331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151334603	chr6:58246338-58246339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575072397	chr6:58246344-58246345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191393788	chr6:58246350-58246351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557643847	chr6:58246366-58246367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575523242	chr6:58246377-58246378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377133181	chr6:58246389-58246390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557816593	chr6:58246412-58246413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113294378	chr6:58246451-58246452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183662621	chr6:58246507-58246508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540825917	chr6:58246559-58246560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559327843	chr6:58246586-58246587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571438347	chr6:58246605-58246606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62414343	chr6:58246621-58246622	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs187514702	chr6:58246628-58246629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541709439	chr6:58246632-58246633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9404712	chr6:58246669-58246670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs530388971	chr6:58246678-58246679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201214638	chr6:58246711-58246712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12195690	chr6:58246715-58246716	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191622120	chr6:58246727-58246728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536600444	chr6:58246738-58246739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547205937	chr6:58246746-58246747	Weak transcription Strong 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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58237800-58253400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:58238000-58252600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:58238000-58252800	Weak transcription	Fetal Intestine Large	intestine
4	chr6:58243000-58250200	Weak transcription	Liver	Liver
5	chr6:58243000-58272800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:58243800-58246000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:58243800-58250400	Weak transcription	Primary T cells from cord blood	blood
8	chr6:58243800-58252800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:58243800-58254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:58244000-58248600	Weak transcription	Adipose Nuclei	Adipose
11	chr6:58244000-58248600	Weak transcription	Lung	lung
12	chr6:58244000-58249000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:58244000-58250000	Weak transcription	Spleen	Spleen
14	chr6:58244000-58250200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:58244000-58250200	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:58244000-58250200	Weak transcription	Ovary	ovary
17	chr6:58244000-58250400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:58244000-58250400	Weak transcription	Fetal Lung	lung
19	chr6:58244000-58252600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:58244000-58252800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:58244000-58252800	Weak transcription	Thymus	Thymus
22	chr6:58244000-58253000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:58244000-58254600	Weak transcription	Brain Anterior Caudate	brain
24	chr6:58244000-58258600	Weak transcription	Pancreas	Pancrea
25	chr6:58244000-58272400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:58244200-58252400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:58244200-58287200	Weak transcription	Right Ventricle	heart
28	chr6:58244400-58272600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:58244600-58247000	Weak transcription	Osteobl	bone
30	chr6:58244600-58249800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:58244600-58250200	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:58244600-58252600	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:58244600-58253000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:58244600-58254400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:58244600-58255400	Weak transcription	Brain Germinal Matrix	brain
36	chr6:58244800-58273000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:58245600-58253000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:58245800-58246400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:58245800-58246600	Weak transcription	Fetal Stomach	stomach
40	chr6:58245800-58247400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:58245800-58248400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:58245800-58248800	Weak transcription	HSMMtube	muscle
43	chr6:58245800-58249000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:58245800-58253200	Weak transcription	Esophagus	oesophagus
45	chr6:58245800-58261800	Weak transcription	Aorta	Aorta
46	chr6:58245800-58272400	Weak transcription	Fetal Brain Female	brain
47	chr6:58245800-58272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:58245800-58275000	Weak transcription	Brain Angular Gyrus	brain
49	chr6:58246000-58246400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:58246400-58252600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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