Variant report

Variant	nsv604499
Chromosome Location	chr6:110401183-110420374
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:110400293..110402395-chr6:110404111..110406019,2	K562	blood:
2	chr6:110414174..110416824-chr6:110419840..110421905,2	K562	blood:
3	chr6:110414174..110416824-chr6:110419840..110421905,2	K562	blood:
4	chr6:110397087..110399467-chr6:110408778..110410725,2	K562	blood:
5	chr6:110400293..110402395-chr6:110404111..110406019,2	K562	blood:
6	chr6:110416916..110418691-chr6:110423265..110425370,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC40-3	chr6:110415384-110416284	NONHSAT114414

No data

Extended variants
information (count: 621 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10499057	chr6:110401183-110401184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560898103	chr6:110401186-110401187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547730087	chr6:110401214-110401215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371325559	chr6:110401224-110401225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572154135	chr6:110401245-110401246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540719420	chr6:110401333-110401334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574252180	chr6:110401447-110401448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570763082	chr6:110401451-110401452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368604399	chr6:110401454-110401455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546539774	chr6:110401473-110401474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188225716	chr6:110401524-110401525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142416438	chr6:110401544-110401545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150229739	chr6:110401559-110401560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548602936	chr6:110401561-110401562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561932246	chr6:110401613-110401614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527796435	chr6:110401639-110401640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138890927	chr6:110401684-110401685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570333934	chr6:110401685-110401686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149404754	chr6:110401694-110401695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532928110	chr6:110401736-110401737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543279415	chr6:110401794-110401795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559715401	chr6:110401803-110401804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145494115	chr6:110401804-110401805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147462714	chr6:110401825-110401826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368679107	chr6:110401832-110401833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111587328	chr6:110401834-110401835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57049072	chr6:110401838-110401839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549552734	chr6:110401876-110401877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569656837	chr6:110401897-110401898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528683643	chr6:110401943-110401944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573458983	chr6:110401958-110401959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535384409	chr6:110401972-110401973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144818920	chr6:110402098-110402099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571903731	chr6:110402112-110402113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565375436	chr6:110402128-110402129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530967998	chr6:110402168-110402169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34268791	chr6:110402188-110402189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150546485	chr6:110402199-110402200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577790223	chr6:110402201-110402202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567605417	chr6:110402245-110402246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546454014	chr6:110402249-110402250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563061750	chr6:110402280-110402281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576719495	chr6:110402290-110402291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80323749	chr6:110402359-110402360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562129798	chr6:110402364-110402365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536169825	chr6:110402424-110402425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112440005	chr6:110402438-110402439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112758276	chr6:110402489-110402490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183157430	chr6:110402500-110402501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564277014	chr6:110402502-110402503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Acute lymphoblastic leukemia	17443227	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
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	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
Intellectual disability	22102821	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110390000-110405200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:110397000-110412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:110397000-110415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:110400800-110401200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:110401000-110401200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:110401200-110405200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:110401800-110402800	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:110402400-110402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:110402600-110402800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:110402800-110414400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:110402800-110419800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:110404600-110406800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:110405000-110405400	Enhancers	NHDF-Ad	bronchial
14	chr6:110405000-110405600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:110405000-110405600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:110405000-110405800	Enhancers	Ovary	ovary
17	chr6:110405000-110405800	Enhancers	HepG2	liver
18	chr6:110405000-110406000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:110405200-110405400	Enhancers	Colon Smooth Muscle	Colon
20	chr6:110405200-110405600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:110405200-110405800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:110405200-110405800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:110405200-110406000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:110405400-110405600	Enhancers	Fetal Kidney	kidney
25	chr6:110405400-110405800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:110405400-110418000	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:110405600-110422800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:110405800-110408000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:110405800-110412600	Weak transcription	Fetal Kidney	kidney
30	chr6:110405800-110417200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:110405800-110422800	Weak transcription	Ovary	ovary
32	chr6:110406000-110408000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:110408000-110408200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:110408000-110409400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:110408800-110418400	Weak transcription	Fetal Stomach	stomach
36	chr6:110409200-110409400	Enhancers	GM12878-XiMat	blood
37	chr6:110409400-110410400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:110409400-110414800	Weak transcription	NHEK	skin
39	chr6:110410400-110411400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:110410400-110422800	Weak transcription	Primary B cells from cord blood	blood
41	chr6:110410600-110416200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:110411200-110419800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:110411200-110422800	Weak transcription	NH-A	brain
44	chr6:110411400-110412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:110411600-110420000	Weak transcription	Fetal Brain Female	brain
46	chr6:110412200-110412400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:110412200-110419800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:110412400-110412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:110412400-110416000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:110412400-110416800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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