Variant report

Variant	nsv886930
Chromosome Location	chr6:165823608-165850480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:165828345..165831277-chr6:165841740..165844002,2	K562	blood:
2	chr6:165828345..165831277-chr6:165841740..165844002,2	K562	blood:

Extended variants
information (count: 1104 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs220761	chr6:165823608-165823609	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566749625	chr6:165823617-165823618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534109248	chr6:165823650-165823651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200726728	chr6:165823655-165823656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57149209	chr6:165823656-165823657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549304174	chr6:165823699-165823700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148174383	chr6:165823710-165823711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373066379	chr6:165823746-165823747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531074206	chr6:165823790-165823791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530274213	chr6:165823860-165823861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181256543	chr6:165823891-165823892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575268014	chr6:165823956-165823957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539550317	chr6:165823961-165823962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199895351	chr6:165823981-165823982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79825709	chr6:165823984-165823985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557871375	chr6:165823985-165823986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs220760	chr6:165823995-165823996	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377581839	chr6:165824011-165824012	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370510825	chr6:165824023-165824024	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs540424373	chr6:165824053-165824054	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs186348756	chr6:165824101-165824102	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs220759	chr6:165824106-165824107	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544295477	chr6:165824136-165824137	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs190173236	chr6:165824138-165824139	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs371190428	chr6:165824160-165824161	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs60275476	chr6:165824183-165824184	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376205065	chr6:165824192-165824193	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571190458	chr6:165824197-165824198	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs2749679	chr6:165824214-165824215	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150658326	chr6:165824267-165824268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140134454	chr6:165824305-165824306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538504669	chr6:165824308-165824309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180749222	chr6:165824309-165824310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185192347	chr6:165824315-165824316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112006270	chr6:165824321-165824322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557932673	chr6:165824360-165824361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572927606	chr6:165824393-165824394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537657289	chr6:165824420-165824421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376824651	chr6:165824421-165824422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371393352	chr6:165824422-165824423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552470838	chr6:165824428-165824429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs220758	chr6:165824440-165824441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71553121	chr6:165824443-165824444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71026687	chr6:165824445-165824446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71553122	chr6:165824448-165824449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371154661	chr6:165824467-165824468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573874266	chr6:165824469-165824470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544521317	chr6:165824472-165824473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562621780	chr6:165824523-165824524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375447259	chr6:165824524-165824525	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:166 , 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	chr6:165772000-165835800	Weak transcription	Fetal Kidney	kidney
3	chr6:165788000-165856800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:165790200-165831400	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:165791400-165834000	Weak transcription	Brain Anterior Caudate	brain
6	chr6:165802000-165827200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:165802800-165831200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:165804200-165828200	Weak transcription	Hela-S3	cervix
9	chr6:165804200-165831400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:165804400-165826000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:165804400-165827600	Weak transcription	HSMMtube	muscle
12	chr6:165806400-165826000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:165806400-165862000	Weak transcription	Right Ventricle	heart
14	chr6:165808800-165824200	Weak transcription	Left Ventricle	heart
15	chr6:165813600-165826400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:165813800-165831600	Weak transcription	Brain Germinal Matrix	brain
17	chr6:165814200-165853800	Weak transcription	Fetal Lung	lung
18	chr6:165816800-165850600	Weak transcription	Aorta	Aorta
19	chr6:165817000-165835800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:165818000-165824000	Weak transcription	HSMM	muscle
21	chr6:165818400-165835800	Weak transcription	Fetal Brain Male	brain
22	chr6:165818400-165848000	Weak transcription	Spleen	Spleen
23	chr6:165818800-165829600	Weak transcription	Gastric	stomach
24	chr6:165818800-165847200	Weak transcription	Fetal Heart	heart
25	chr6:165819000-165831400	Weak transcription	Fetal Brain Female	brain
26	chr6:165822800-165833800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:165823000-165833600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:165823200-165824000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:165823200-165834400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:165824000-165824200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:165824000-165825200	Strong transcription	HSMM	muscle
32	chr6:165824200-165825000	Strong transcription	Left Ventricle	heart
33	chr6:165824200-165825800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:165824600-165840400	Weak transcription	Ovary	ovary
35	chr6:165825000-165827000	Weak transcription	Left Ventricle	heart
36	chr6:165825200-165826000	Weak transcription	HSMM	muscle
37	chr6:165825600-165856200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:165825800-165829800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:165826000-165828400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:165826000-165829800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:165826000-165829800	Strong transcription	HSMM	muscle
42	chr6:165826400-165826600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:165826600-165856000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:165827000-165828400	Strong transcription	Left Ventricle	heart
45	chr6:165827200-165828200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:165827400-165831600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:165827600-165828400	Strong transcription	HSMMtube	muscle
48	chr6:165827800-165833000	Weak transcription	Adipose Nuclei	Adipose
49	chr6:165828200-165829400	Strong transcription	Hela-S3	cervix
50	chr6:165828200-165830000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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