Variant report

Variant	nsv605279
Chromosome Location	chr6:167162077-167165786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167160489..167162374-chr6:167163032..167165986,2	K562	blood:
2	chr6:167160489..167162374-chr6:167163032..167165986,2	K562	blood:
3	chr6:167039628..167041364-chr6:167163244..167165367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071242	chromatin interactions

Extended variants
information (count: 231 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:231 , 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	rs188132287	chr6:167162079-167162080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192398982	chr6:167162080-167162081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182957066	chr6:167162096-167162097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187546217	chr6:167162111-167162112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192660589	chr6:167162118-167162119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184685150	chr6:167162133-167162134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181648586	chr6:167162140-167162141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571091577	chr6:167162143-167162144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367597499	chr6:167162159-167162160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556865155	chr6:167162162-167162163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188940772	chr6:167162168-167162169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200104647	chr6:167162181-167162182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373808071	chr6:167162191-167162192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368017122	chr6:167162207-167162208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371748535	chr6:167162208-167162209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554410622	chr6:167162214-167162215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376332198	chr6:167162223-167162224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368365250	chr6:167162224-167162225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201602079	chr6:167162230-167162231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372680854	chr6:167162239-167162240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558510598	chr6:167162240-167162241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576396402	chr6:167162246-167162247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191908745	chr6:167162261-167162262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201088187	chr6:167162289-167162290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562396852	chr6:167162357-167162358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529878800	chr6:167162375-167162376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184831648	chr6:167162382-167162383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560409407	chr6:167162398-167162399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575832901	chr6:167162468-167162469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527769373	chr6:167162471-167162472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546061980	chr6:167162565-167162566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564820620	chr6:167162581-167162582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111218903	chr6:167162586-167162587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199869810	chr6:167162597-167162598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552353112	chr6:167162679-167162680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370042394	chr6:167162725-167162726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570879321	chr6:167162751-167162752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138922453	chr6:167162766-167162767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202193013	chr6:167162782-167162783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550502720	chr6:167162871-167162872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568762626	chr6:167162879-167162880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536106664	chr6:167162894-167162895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547951262	chr6:167162911-167162912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566482794	chr6:167162927-167162928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533904842	chr6:167162928-167162929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558343054	chr6:167162932-167162933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576433236	chr6:167162942-167162943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537408173	chr6:167162981-167162982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556084941	chr6:167162991-167162992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528757451	chr6:167163009-167163010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167157600-167163600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:167157600-167164200	Weak transcription	Fetal Kidney	kidney
3	chr6:167157800-167163200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:167157800-167163800	Weak transcription	Brain Anterior Caudate	brain
5	chr6:167157800-167163800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:167157800-167164200	Weak transcription	HSMM	muscle
7	chr6:167158200-167163000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:167160000-167164600	Weak transcription	HSMMtube	muscle
9	chr6:167161600-167162200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:167161600-167163200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:167161600-167163400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:167161600-167164600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:167161800-167163200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:167161800-167163200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:167161800-167163400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:167161800-167163400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:167161800-167163400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:167161800-167163400	Weak transcription	NH-A	brain
19	chr6:167161800-167163600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:167161800-167164000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:167162000-167163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:167162000-167163200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:167162000-167163200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:167162000-167163200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:167162000-167163200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:167162000-167163200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:167162000-167163200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:167162000-167163200	Weak transcription	Fetal Thymus	thymus
29	chr6:167162000-167163600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:167162000-167163600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:167162000-167163800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:167162000-167163800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:167162000-167164000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:167162000-167164400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:167162200-167163000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:167163000-167163200	Weak transcription	Primary B cells from cord blood	blood
37	chr6:167163000-167164800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:167163000-167165200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:167163000-167165600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:167163200-167163800	Bivalent Enhancer	Fetal Stomach	stomach
41	chr6:167163200-167164000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr6:167163200-167164200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:167163200-167164200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:167163200-167164200	Enhancers	Primary B cells from cord blood	blood
45	chr6:167163200-167164400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:167163200-167164400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:167163200-167164400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:167163200-167164400	Enhancers	Fetal Thymus	thymus
49	chr6:167163200-167165000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr6:167163200-167165200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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