Variant report

Variant	nsv605252
Chromosome Location	chr6:165837800-165862892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:165853163..165853846-chr6:166142950..166143575,2	MCF-7	breast:
2	chr6:165853196..165854005-chr6:166263814..166264539,3	MCF-7	breast:
3	chr6:165828345..165831277-chr6:165841740..165844002,2	K562	blood:

Extended variants
information (count: 1010 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs220809	chr6:165837800-165837801	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139710451	chr6:165837878-165837879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528893527	chr6:165837897-165837898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182804021	chr6:165837941-165837942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139165529	chr6:165837981-165837982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67456696	chr6:165837982-165837983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553015181	chr6:165837991-165837992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9459417	chr6:165837992-165837993	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115002103	chr6:165838041-165838042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs220808	chr6:165838045-165838046	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147443629	chr6:165838141-165838142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555624179	chr6:165838157-165838158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188514039	chr6:165838213-165838214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537800400	chr6:165838229-165838230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556246667	chr6:165838257-165838258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148453248	chr6:165838281-165838282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs499607	chr6:165838325-165838326	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192894119	chr6:165838334-165838335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1626928	chr6:165838339-165838340	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1626903	chr6:165838344-165838345	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73245654	chr6:165838368-165838369	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184952192	chr6:165838373-165838374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577295851	chr6:165838407-165838408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577430380	chr6:165838439-165838440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140193071	chr6:165838481-165838482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371245205	chr6:165838486-165838487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550562157	chr6:165838521-165838522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562596162	chr6:165838536-165838537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188268373	chr6:165838548-165838549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551438074	chr6:165838651-165838652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566587981	chr6:165838719-165838720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533985336	chr6:165838723-165838724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549008468	chr6:165838724-165838725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567181396	chr6:165838727-165838728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534754556	chr6:165838744-165838745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80129998	chr6:165838761-165838762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10485105	chr6:165838794-165838795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150530802	chr6:165838796-165838797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554237495	chr6:165838820-165838821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375695857	chr6:165838823-165838824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557900294	chr6:165838920-165838921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572557014	chr6:165838950-165838951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58254626	chr6:165838952-165838953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191254782	chr6:165838958-165838959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183879662	chr6:165838972-165838973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544109244	chr6:165838983-165838984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139501781	chr6:165839040-165839041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189389200	chr6:165839058-165839059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544822308	chr6:165839060-165839061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182041107	chr6:165839062-165839063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Glioblastoma multiforme	21138945	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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165747600-165853000	Weak transcription	A549	lung
2	chr6:165788000-165856800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:165806400-165862000	Weak transcription	Right Ventricle	heart
4	chr6:165814200-165853800	Weak transcription	Fetal Lung	lung
5	chr6:165816800-165850600	Weak transcription	Aorta	Aorta
6	chr6:165818400-165848000	Weak transcription	Spleen	Spleen
7	chr6:165818800-165847200	Weak transcription	Fetal Heart	heart
8	chr6:165824600-165840400	Weak transcription	Ovary	ovary
9	chr6:165825600-165856200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:165826600-165856000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:165829400-165844400	Weak transcription	Hela-S3	cervix
12	chr6:165829800-165837800	Weak transcription	Brain Angular Gyrus	brain
13	chr6:165831000-165862800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:165831800-165845400	Weak transcription	Placenta	Placenta
15	chr6:165832000-165840400	Weak transcription	HSMMtube	muscle
16	chr6:165832000-165845800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:165832200-165839200	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:165832200-165839600	Weak transcription	HSMM	muscle
19	chr6:165832200-165839800	Weak transcription	Fetal Brain Female	brain
20	chr6:165832200-165840200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:165832200-165840400	Weak transcription	Left Ventricle	heart
22	chr6:165832200-165856800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:165832200-165856800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:165832200-165858800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:165832800-165840400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:165835200-165849200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:165836000-165840400	Weak transcription	Fetal Kidney	kidney
28	chr6:165836000-165848200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:165836000-165873200	Weak transcription	Fetal Brain Male	brain
30	chr6:165837400-165840400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:165838200-165840400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:165839600-165846800	Strong transcription	HSMM	muscle
33	chr6:165839800-165840800	ZNF genes & repeats	Fetal Brain Female	brain
34	chr6:165839800-165856000	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:165840000-165840800	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:165840200-165841000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:165840400-165840600	ZNF genes & repeats	Ovary	ovary
38	chr6:165840400-165840800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:165840400-165840800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:165840400-165840800	ZNF genes & repeats	Fetal Kidney	kidney
41	chr6:165840400-165841000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:165840400-165841000	ZNF genes & repeats	HSMMtube	muscle
43	chr6:165840400-165841200	Strong transcription	Left Ventricle	heart
44	chr6:165840600-165846400	Weak transcription	Ovary	ovary
45	chr6:165840800-165841000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:165840800-165841000	ZNF genes & repeats	Brain Hippocampus Middle	brain
47	chr6:165840800-165841200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:165840800-165844600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:165840800-165850000	Weak transcription	Fetal Brain Female	brain
50	chr6:165840800-165853600	Weak transcription	Fetal Kidney	kidney

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