Variant report

Variant	esv3450412
Chromosome Location	chr3:75982262-75987860
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	chr20:26208071..26209607-chr3:75987301..75988916,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FRG2C-12	chr3:75986632-75986776	NONHSAT090553

Extended variants
information (count: 344 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565226040	chr3:75982407-75982408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564864840	chr3:75982432-75982433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34821214	chr3:75982494-75982495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142558887	chr3:75982547-75982548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7620543	chr3:75982552-75982553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184589190	chr3:75982583-75982584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190405422	chr3:75982603-75982604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117913749	chr3:75982650-75982651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567759133	chr3:75982664-75982665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111543872	chr3:75982728-75982729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192897430	chr3:75982755-75982756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185026147	chr3:75982765-75982766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578261219	chr3:75982825-75982826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539315225	chr3:75982854-75982855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554242098	chr3:75982869-75982870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143258048	chr3:75982871-75982872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572434660	chr3:75982872-75982873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139857247	chr3:75982892-75982893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34740095	chr3:75982982-75982983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561393624	chr3:75982991-75982992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576450085	chr3:75982994-75982995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149249140	chr3:75983013-75983014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144427985	chr3:75983033-75983034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532309514	chr3:75983133-75983134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537071368	chr3:75983166-75983167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557395286	chr3:75983234-75983235	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs371612365	chr3:75983236-75983237	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs574059966	chr3:75983305-75983306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs201086266	chr3:75983383-75983384	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77284488	chr3:75983394-75983395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs75154206	chr3:75983404-75983405	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs199737575	chr3:75983478-75983479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs558948499	chr3:75983487-75983488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs72886563	chr3:75983492-75983493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs529599768	chr3:75983519-75983520	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs74733201	chr3:75983524-75983525	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs201319958	chr3:75983529-75983530	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs374788870	chr3:75983543-75983544	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs138193454	chr3:75983545-75983546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs146527362	chr3:75983546-75983547	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113006365	chr3:75983556-75983557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569769810	chr3:75983563-75983564	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs75003778	chr3:75983582-75983583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs74207846	chr3:75983592-75983593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs371724651	chr3:75983621-75983622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs80117177	chr3:75983622-75983623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs114869190	chr3:75983626-75983627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs73123273	chr3:75983634-75983635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs143276175	chr3:75983643-75983644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4009820	chr3:75983649-75983650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75982400-75982600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:75982400-75982600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:75982600-75983200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:75982600-75983600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:75983200-75986800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr3:75983600-75984600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr3:75984800-75987000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr3:75985000-75985400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr3:75986400-75986800	ZNF genes & repeats	NHLF	lung
10	chr3:75986600-75986800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:75986600-75986800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:75986600-75986800	Enhancers	Esophagus	oesophagus
13	chr3:75986600-75986800	ZNF genes & repeats	Fetal Brain Male	brain
14	chr3:75986600-75986800	Enhancers	Gastric	stomach
15	chr3:75986600-75986800	ZNF genes & repeats	Pancreas	Pancrea
16	chr3:75986600-75986800	ZNF genes & repeats	Spleen	Spleen
17	chr3:75987200-75988200	Weak transcription	Fetal Brain Male	brain

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