Variant report

Variant	nsv999255
Chromosome Location	chr3:85222822-85323285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
2	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
3	chr3:85243785..85244488-chr6:122933006..122933585,2	MCF-7	breast:
4	chr14:33567272..33568194-chr3:85240415..85241255,2	MCF-7	breast:

Extended variants
information (count: 1914 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1914 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147938904	chr3:85222827-85222828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559865747	chr3:85222859-85222860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572249565	chr3:85222958-85222959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546267098	chr3:85222967-85222968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187759684	chr3:85222974-85222975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531753904	chr3:85223001-85223002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115022959	chr3:85223071-85223072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563912570	chr3:85223098-85223099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73128748	chr3:85223227-85223228	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192445604	chr3:85223237-85223238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141205815	chr3:85223243-85223244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183959928	chr3:85223244-85223245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533909664	chr3:85223252-85223253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187827301	chr3:85223253-85223254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373256376	chr3:85223305-85223306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530984413	chr3:85223402-85223403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150335816	chr3:85223427-85223428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549156132	chr3:85223454-85223455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376813660	chr3:85223469-85223470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111460418	chr3:85223486-85223487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184681688	chr3:85223487-85223488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34652045	chr3:85223513-85223514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371183459	chr3:85223516-85223517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190065892	chr3:85223565-85223566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117614744	chr3:85223578-85223579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111397840	chr3:85223580-85223581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371117279	chr3:85223596-85223597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144888359	chr3:85223606-85223607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111734333	chr3:85223640-85223641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545653384	chr3:85223647-85223648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534881675	chr3:85223659-85223660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201772803	chr3:85223667-85223668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147734210	chr3:85223669-85223670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564621863	chr3:85223674-85223675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576421221	chr3:85223740-85223741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114496326	chr3:85223741-85223742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562060970	chr3:85223773-85223774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114762383	chr3:85223782-85223783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541731394	chr3:85223819-85223820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370903433	chr3:85223896-85223897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576278105	chr3:85223900-85223901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533593526	chr3:85223909-85223910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372634934	chr3:85223939-85223940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551647907	chr3:85223946-85223947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181409251	chr3:85223952-85223953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531261186	chr3:85223976-85223977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549791692	chr3:85224006-85224007	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs536781865	chr3:85224007-85224008	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184275130	chr3:85224040-85224041	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs189441529	chr3:85224043-85224044	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85214200-85225600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:85222000-85224000	Weak transcription	Brain Angular Gyrus	brain
3	chr3:85223000-85223400	Enhancers	Brain Anterior Caudate	brain
4	chr3:85223000-85223600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:85223400-85224000	Weak transcription	Brain Anterior Caudate	brain
6	chr3:85224000-85224400	Active TSS	Brain Anterior Caudate	brain
7	chr3:85224000-85224400	Active TSS	Brain Hippocampus Middle	brain
8	chr3:85224000-85224600	Active TSS	Brain Substantia Nigra	brain
9	chr3:85224000-85224800	Active TSS	Brain Angular Gyrus	brain
10	chr3:85224000-85224800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr3:85224200-85224800	Active TSS	Brain Cingulate Gyrus	brain
12	chr3:85224400-85224600	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr3:85224400-85235000	Weak transcription	Brain Anterior Caudate	brain
14	chr3:85224600-85224800	Enhancers	Brain Hippocampus Middle	brain
15	chr3:85224600-85224800	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr3:85224800-85232600	Weak transcription	Brain Substantia Nigra	brain
17	chr3:85224800-85232800	Weak transcription	Brain Angular Gyrus	brain
18	chr3:85224800-85233800	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:85231600-85231800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr3:85231800-85233200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:85232600-85232800	Enhancers	Brain Cingulate Gyrus	brain
22	chr3:85232600-85234400	Enhancers	Brain Substantia Nigra	brain
23	chr3:85232800-85233000	Enhancers	Brain Angular Gyrus	brain
24	chr3:85232800-85234800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:85233000-85233800	Weak transcription	Brain Angular Gyrus	brain
26	chr3:85233800-85234200	Enhancers	Brain Angular Gyrus	brain
27	chr3:85233800-85234400	Enhancers	Brain Hippocampus Middle	brain
28	chr3:85234200-85235800	Weak transcription	Brain Angular Gyrus	brain
29	chr3:85234400-85235800	Weak transcription	Brain Substantia Nigra	brain
30	chr3:85234800-85235200	Enhancers	Brain Cingulate Gyrus	brain
31	chr3:85235000-85235200	Enhancers	Brain Anterior Caudate	brain
32	chr3:85235800-85236000	Enhancers	Brain Angular Gyrus	brain
33	chr3:85235800-85236000	Enhancers	Brain Substantia Nigra	brain
34	chr3:85239200-85239600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:85251200-85252200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:85251800-85252200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr3:85256000-85257400	Enhancers	Fetal Brain Female	brain
38	chr3:85256200-85257600	Enhancers	Fetal Brain Male	brain
39	chr3:85263400-85265800	Weak transcription	Brain Angular Gyrus	brain
40	chr3:85273200-85273400	ZNF genes & repeats	Brain Hippocampus Middle	brain
41	chr3:85273400-85278200	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:85277800-85278600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:85277800-85278800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:85278000-85278400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:85278000-85279400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:85278200-85278400	Enhancers	Brain Hippocampus Middle	brain
47	chr3:85278200-85278600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr3:85278200-85278600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:85278200-85278600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:85278200-85278600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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