Variant report

Variant	nsv1012957
Chromosome Location	chr3:118770040-118834142
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:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:118780729..118783547-chr3:118785374..118787661,2	K562	blood:
2	chr3:116489803..116490556-chr3:118816385..118817077,2	K562	blood:
3	chr3:118600892..118601643-chr3:118803705..118804296,2	K562	blood:
4	chr20:55795723..55796346-chr3:118817504..118818179,2	MCF-7	breast:
5	chr3:118601491..118603517-chr3:118818904..118820959,2	MCF-7	breast:
6	chr3:118603511..118604421-chr3:118817152..118818248,5	MCF-7	breast:
7	chr3:118601857..118602685-chr3:118817256..118818095,2	MCF-7	breast:
8	chr3:118600900..118602263-chr3:118817111..118818102,7	MCF-7	breast:
9	chr3:118603151..118604416-chr3:118816830..118818388,23	MCF-7	breast:
10	chr3:118781130..118783547-chr3:118786161..118788492,2	K562	blood:
11	chr3:118753444..118753993-chr3:118815481..118816221,2	MCF-7	breast:
12	chr3:118780729..118783547-chr3:118785374..118787661,2	K562	blood:
13	chr3:118603251..118604473-chr3:118817204..118818111,6	K562	blood:
14	chr3:118604102..118604821-chr3:118803607..118804317,2	MCF-7	breast:
15	chr3:118781130..118783547-chr3:118786161..118788492,2	K562	blood:
16	chr3:118600918..118601876-chr3:118816856..118817797,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B4GALT4-2	chr3:118831521-118831625	NONHSAT091373
2	lnc-B4GALT4-2	chr3:118823991-118824052	NONHSAT091373

No data

Variant related genes	Relation type
ENSG00000144847	chromatin interactions

Extended variants
information (count: 645 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112300347	chr3:118786838-118786839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182063798	chr3:118786839-118786840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1347449	chr3:118786845-118786846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149338395	chr3:118786852-118786853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80247556	chr3:118786874-118786875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186363209	chr3:118786897-118786898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551675955	chr3:118786940-118786941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191154253	chr3:118786949-118786950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146300997	chr3:118786957-118786958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555079269	chr3:118786977-118786978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558347912	chr3:118787081-118787082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116024249	chr3:118787135-118787136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534447298	chr3:118787261-118787262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575133757	chr3:118787314-118787315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74448061	chr3:118787398-118787399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180735571	chr3:118787436-118787437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35511187	chr3:118787453-118787454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577243709	chr3:118787519-118787520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74573782	chr3:118787568-118787569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552271636	chr3:118792225-118792226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570852639	chr3:118792236-118792237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376017639	chr3:118792237-118792238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376502534	chr3:118792239-118792240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs370902191	chr3:118792268-118792269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs556431602	chr3:118792295-118792296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs568214817	chr3:118792297-118792298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs145657438	chr3:118792318-118792319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs138194331	chr3:118792320-118792321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs572159370	chr3:118792333-118792334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571050425	chr3:118792350-118792351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557443570	chr3:118792352-118792353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs539639803	chr3:118792359-118792360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs576004994	chr3:118792360-118792361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112967365	chr3:118792364-118792365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112163292	chr3:118792383-118792384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs372560499	chr3:118792396-118792397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs79641870	chr3:118792416-118792417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs542006535	chr3:118792439-118792440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560349135	chr3:118792442-118792443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs527762170	chr3:118792459-118792460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552660804	chr3:118792464-118792465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs564284048	chr3:118792466-118792467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191329328	chr3:118792467-118792468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs117233877	chr3:118792470-118792471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568353834	chr3:118792471-118792472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370371434	chr3:118792519-118792520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs2099487	chr3:118792527-118792528	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547595144	chr3:118792528-118792529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs565891892	chr3:118792529-118792530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs138039514	chr3:118792531-118792532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118786800-118787600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:118792200-118792800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:118792200-118792800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:118792400-118792800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:118800000-118800400	Enhancers	Brain Germinal Matrix	brain
6	chr3:118803000-118805400	Enhancers	A549	lung
7	chr3:118803400-118804200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:118803600-118804000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:118803600-118804000	Enhancers	HMEC	breast
10	chr3:118812000-118812600	Enhancers	A549	lung
11	chr3:118812400-118813000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:118812600-118817400	Weak transcription	A549	lung
13	chr3:118817400-118819400	Enhancers	A549	lung
14	chr3:118818600-118819200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:118819400-118820400	Weak transcription	A549	lung
16	chr3:118831200-118833000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:118831200-118833200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr3:118831600-118832000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr3:118831800-118833800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:118832400-118832600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:118832400-118832800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:118832400-118833000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:118832800-118833000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr3:118833000-118833400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:118833000-118836200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:118833400-118836600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:118834000-118834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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