Variant report

Variant	esv17749
Chromosome Location	chr3:75985380-75998678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:26208071..26209607-chr3:75987301..75988916,2	K562	blood:
2	chr20:26208095..26209894-chr3:75988198..75990401,2	MCF-7	breast:
3	chr20:26206073..26206971-chr3:75991464..75992265,2	MCF-7	breast:
4	chr20:26201563..26203476-chr3:75993448..75995749,2	K562	blood:
5	chr20:26199924..26201625-chr3:75995563..75997738,2	MCF-7	breast:
6	chr20:26201915..26204776-chr3:75992954..75996738,5	MCF-7	breast:

(count:1 , 50 per page) page: 1

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

No data

Extended variants
information (count: 474 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112974494	chr3:75985385-75985386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548571023	chr3:75985407-75985408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs62269812	chr3:75985417-75985418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs570033622	chr3:75985445-75985446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76196373	chr3:75985452-75985453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs72886582	chr3:75985454-75985455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs77546912	chr3:75985468-75985469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs74836844	chr3:75985483-75985484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs74597777	chr3:75985494-75985495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs537002201	chr3:75985512-75985513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs75873605	chr3:75985527-75985528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs74401630	chr3:75985532-75985533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79235533	chr3:75985533-75985534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs552147109	chr3:75985551-75985552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570661584	chr3:75985568-75985569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534774630	chr3:75985575-75985576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552785325	chr3:75985585-75985586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76182030	chr3:75985611-75985612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78045626	chr3:75985615-75985616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs79811942	chr3:75985619-75985620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371459183	chr3:75985681-75985682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs76318514	chr3:75985683-75985684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs77879458	chr3:75985684-75985685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78124420	chr3:75985700-75985701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs9310352	chr3:75985742-75985743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535764841	chr3:75985755-75985756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs199947352	chr3:75985762-75985763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145746194	chr3:75985775-75985776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75248761	chr3:75985787-75985788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs79396993	chr3:75985801-75985802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs199930222	chr3:75985822-75985823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs374043214	chr3:75985845-75985846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs74994870	chr3:75985860-75985861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs73841019	chr3:75985871-75985872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs556929330	chr3:75985898-75985899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs575204250	chr3:75985913-75985914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545860620	chr3:75985921-75985922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564048029	chr3:75985922-75985923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs74320489	chr3:75985930-75985931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79465757	chr3:75985932-75985933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs74799019	chr3:75985936-75985937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs188983222	chr3:75985938-75985939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs139929554	chr3:75985958-75985959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs111750125	chr3:75985977-75985978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs559916584	chr3:75985994-75985995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73841020	chr3:75986011-75986012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77350456	chr3:75986012-75986013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs370259990	chr3:75986036-75986037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs12163560	chr3:75986059-75986060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12163580	chr3:75986060-75986061	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	chr3:75983200-75986800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr3:75984800-75987000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr3:75985000-75985400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr3:75986400-75986800	ZNF genes & repeats	NHLF	lung
5	chr3:75986600-75986800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:75986600-75986800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:75986600-75986800	Enhancers	Esophagus	oesophagus
8	chr3:75986600-75986800	ZNF genes & repeats	Fetal Brain Male	brain
9	chr3:75986600-75986800	Enhancers	Gastric	stomach
10	chr3:75986600-75986800	ZNF genes & repeats	Pancreas	Pancrea
11	chr3:75986600-75986800	ZNF genes & repeats	Spleen	Spleen
12	chr3:75987200-75988200	Weak transcription	Fetal Brain Male	brain
13	chr3:75991000-75992000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:75994200-75996000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr3:75994800-75996600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr3:75995400-75995800	ZNF genes & repeats	Fetal Brain Male	brain
17	chr3:75998400-75998800	ZNF genes & repeats	Fetal Brain Male	brain

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