Variant report

Variant	nsv885878
Chromosome Location	chr6:48481466-48623408
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:48477659..48480507-chr6:48480659..48483377,2	K562	blood:
2	chr6:48478738..48480605-chr6:48482377..48484085,2	MCF-7	breast:
3	chr6:48499583..48501094-chr6:48503613..48505282,2	MCF-7	breast:
4	chr6:48569991..48572722-chr6:48575799..48577500,2	K562	blood:
5	chr6:48499583..48501094-chr6:48503613..48505282,2	MCF-7	breast:
6	chr21:46994360..46994929-chr6:48558172..48558942,2	MCF-7	breast:
7	chr6:48569991..48572722-chr6:48575799..48577500,2	K562	blood:
8	chr6:48492592..48495005-chr6:48502710..48504225,2	K562	blood:
9	chr6:48492592..48495005-chr6:48502710..48504225,2	K562	blood:

No data

Extended variants
information (count: 3068 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3068 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9473407	chr6:48481466-48481467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193261176	chr6:48481485-48481486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16877530	chr6:48481502-48481503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570646135	chr6:48481524-48481525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565878598	chr6:48481534-48481535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530413387	chr6:48481563-48481564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368123344	chr6:48481566-48481567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560485534	chr6:48481569-48481570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527649826	chr6:48481604-48481605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77506767	chr6:48481613-48481614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534863251	chr6:48481617-48481618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552611544	chr6:48481642-48481643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5876065	chr6:48481654-48481655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397821717	chr6:48481665-48481666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570910042	chr6:48481670-48481671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376714105	chr6:48481696-48481697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61653566	chr6:48481727-48481728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537999614	chr6:48481755-48481756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549936859	chr6:48481817-48481818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184979018	chr6:48481832-48481833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546911449	chr6:48481862-48481863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535718331	chr6:48481897-48481898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369223020	chr6:48481935-48481936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7760808	chr6:48481948-48481949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs377430962	chr6:48482013-48482014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73736857	chr6:48482031-48482032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539007459	chr6:48482090-48482091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561022515	chr6:48482137-48482138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114394268	chr6:48482200-48482201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190315186	chr6:48482259-48482260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112547861	chr6:48482290-48482291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555048788	chr6:48482316-48482317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77925316	chr6:48482337-48482338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574963933	chr6:48482374-48482375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574809175	chr6:48482414-48482415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560723471	chr6:48482417-48482418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527992617	chr6:48482426-48482427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557720341	chr6:48482471-48482472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374981365	chr6:48482527-48482528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529719831	chr6:48482530-48482531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546793435	chr6:48482531-48482532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537665691	chr6:48482536-48482537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550034345	chr6:48482554-48482555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557164947	chr6:48482577-48482578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576085008	chr6:48482581-48482582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568562056	chr6:48482616-48482617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535261726	chr6:48482631-48482632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547199977	chr6:48482632-48482633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2040072	chr6:48482634-48482635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs36083798	chr6:48482652-48482653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48481200-48481600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:48481400-48482200	Enhancers	Brain Germinal Matrix	brain
3	chr6:48482200-48483000	Weak transcription	Brain Germinal Matrix	brain
4	chr6:48483000-48484000	Enhancers	Brain Germinal Matrix	brain
5	chr6:48492200-48493000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr6:48494200-48498000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:48498000-48498400	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:48498000-48498600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:48498000-48498600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:48498400-48501800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:48498600-48502200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:48498600-48502400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:48501800-48502000	Enhancers	Primary hematopoietic stem cells	blood
14	chr6:48502000-48502400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:48502200-48504200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:48502400-48503400	Enhancers	Primary hematopoietic stem cells	blood
17	chr6:48502400-48504000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:48502400-48504000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:48503200-48503600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:48503200-48503600	Enhancers	Dnd41	blood
21	chr6:48503200-48503800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:48503200-48503800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:48503200-48503800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:48503200-48503800	Enhancers	NHEK	skin
25	chr6:48503400-48503600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:48503400-48503800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:48503400-48503800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:48503400-48503800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:48503400-48503800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:48503400-48503800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:48503400-48503800	Bivalent Enhancer	HMEC	breast
32	chr6:48503400-48504200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:48503600-48503800	Bivalent Enhancer	HSMM	muscle
34	chr6:48503800-48504000	Bivalent Enhancer	NH-A	brain
35	chr6:48509000-48510600	Enhancers	Hela-S3	cervix
36	chr6:48509400-48510200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:48509400-48510400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:48509600-48510600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:48510600-48511200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:48512800-48513200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:48518000-48519000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:48519000-48519600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:48519600-48520200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:48520200-48520600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:48521600-48522000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:48522000-48527600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:48525400-48526600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:48526200-48526400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:48526600-48531200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:48527600-48528400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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