Variant report

Variant	nsv963575
Chromosome Location	chr3:94049012-94055169
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:94054939..94055798-chr3:96531581..96532532,3	MCF-7	breast:
2	chr3:94050592..94052105-chr3:94053933..94055810,2	MCF-7	breast:
3	chr3:94054837..94055425-chr3:94267883..94268644,2	MCF-7	breast:
4	chr3:94054789..94056012-chr3:94435236..94436188,3	MCF-7	breast:
5	chr3:94022598..94023133-chr3:94054865..94055827,3	MCF-7	breast:
6	chr3:94054880..94055822-chr3:94435163..94435841,3	MCF-7	breast:
7	chr3:93967931..93968992-chr3:94054603..94055377,6	MCF-7	breast:
8	chr3:94050592..94052105-chr3:94053933..94055810,2	MCF-7	breast:

No data

Extended variants
information (count: 150 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550625037	chr3:94049012-94049013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183760991	chr3:94049015-94049016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142394075	chr3:94049107-94049108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375483304	chr3:94049122-94049123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547060034	chr3:94049125-94049126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145926745	chr3:94049198-94049199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374064495	chr3:94049201-94049202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189615870	chr3:94049206-94049207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564030632	chr3:94049228-94049229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1492020	chr3:94049239-94049240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538511087	chr3:94049240-94049241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149263378	chr3:94049251-94049252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75530064	chr3:94049325-94049326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181948928	chr3:94049336-94049337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559377560	chr3:94049512-94049513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75699824	chr3:94049518-94049519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144344838	chr3:94049560-94049561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186992046	chr3:94049564-94049565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73160949	chr3:94049602-94049603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564513548	chr3:94049623-94049624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530429871	chr3:94049626-94049627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114412079	chr3:94049641-94049642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370810715	chr3:94049645-94049646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564863070	chr3:94049688-94049689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191961561	chr3:94049732-94049733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546503770	chr3:94049745-94049746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181518536	chr3:94049826-94049827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559664581	chr3:94049849-94049850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532616293	chr3:94049888-94049889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552725753	chr3:94049903-94049904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553300930	chr3:94049953-94049954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76391367	chr3:94050022-94050023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537893786	chr3:94050056-94050057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555242087	chr3:94050079-94050080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186709129	chr3:94050102-94050103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534389947	chr3:94050147-94050148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373394457	chr3:94050148-94050149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368716690	chr3:94050159-94050160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148780442	chr3:94050172-94050173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532289910	chr3:94050217-94050218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115746586	chr3:94050286-94050287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190026375	chr3:94050300-94050301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182353300	chr3:94050332-94050333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543916413	chr3:94050335-94050336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186624395	chr3:94050396-94050397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565737573	chr3:94050406-94050407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142393476	chr3:94050439-94050440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189563996	chr3:94050457-94050458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147548889	chr3:94050503-94050504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548061859	chr3:94050523-94050524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94047400-94050600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:94050600-94051000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:94050800-94051000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:94052000-94052800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:94052800-94053200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:94053200-94054000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:94054800-94055200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:94055000-94055400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:94055000-94055400	Enhancers	Fetal Lung	lung

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