Variant report

Variant	nsv461313
Chromosome Location	chr4:28592154-28661526
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:1)
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	chr4:28599052..28601001-chr4:28607450..28609596,2	MCF-7	breast:
2	chr4:28654800..28656998-chr4:28661413..28663386,2	MCF-7	breast:
3	chr4:28619270..28620926-chr4:28622787..28624765,2	MCF-7	breast:
4	chr4:28619270..28620926-chr4:28622787..28624765,2	MCF-7	breast:
5	chr4:28654800..28656998-chr4:28661413..28663386,2	MCF-7	breast:
6	chr4:28599052..28601001-chr4:28607450..28609596,2	MCF-7	breast:
7	chr4:28642172..28644284-chr4:28671364..28674142,2	MCF-7	breast:
8	chr2:19310340..19311108-chr4:28646906..28647846,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STIM2-4	chr4:28601669-28601897	ENSG00000250064

No data

Extended variants
information (count: 1870 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1870 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1514125	chr4:28592154-28592155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192834648	chr4:28592163-28592164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183785828	chr4:28592164-28592165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527865800	chr4:28592215-28592216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547104204	chr4:28592285-28592286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376600743	chr4:28592305-28592306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570183861	chr4:28592325-28592326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539048012	chr4:28592331-28592332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188279349	chr4:28592361-28592362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76082517	chr4:28592362-28592363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374888717	chr4:28592404-28592405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376716076	chr4:28592429-28592430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2458620	chr4:28592441-28592442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116556069	chr4:28592448-28592449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554311795	chr4:28592449-28592450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138583159	chr4:28592476-28592477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192664525	chr4:28592487-28592488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570242800	chr4:28592544-28592545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572315407	chr4:28592545-28592546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59015335	chr4:28592551-28592552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78894693	chr4:28592552-28592553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199952574	chr4:28592553-28592554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184845392	chr4:28592561-28592562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375758425	chr4:28592585-28592586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542194584	chr4:28592637-28592638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2471724	chr4:28592646-28592647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527900555	chr4:28592658-28592659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547535663	chr4:28592700-28592701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373014832	chr4:28592715-28592716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570218882	chr4:28592716-28592717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7657264	chr4:28592734-28592735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375641556	chr4:28592769-28592770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73215428	chr4:28592799-28592800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569577093	chr4:28592802-28592803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145678993	chr4:28592860-28592861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559560899	chr4:28592864-28592865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565935381	chr4:28592905-28592906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574082659	chr4:28592954-28592955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74848193	chr4:28592962-28592963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577249879	chr4:28592967-28592968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558025172	chr4:28592973-28592974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539829606	chr4:28592978-28592979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577912722	chr4:28592988-28592989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189176709	chr4:28592992-28592993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556607287	chr4:28593018-28593019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576376802	chr4:28593028-28593029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542176766	chr4:28593066-28593067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562045824	chr4:28593073-28593074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527936470	chr4:28593098-28593099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541313164	chr4:28593115-28593116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28588200-28623400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:28602000-28602600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:28602200-28602600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:28602400-28602800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:28602600-28603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:28602800-28603800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:28603800-28604000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:28603800-28604000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:28611400-28611800	Enhancers	Fetal Heart	heart
10	chr4:28622800-28623800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:28623000-28623600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:28623400-28623800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:28623800-28641200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:28629800-28630200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:28632800-28641400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:28641200-28641400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:28641400-28641600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:28655800-28656400	Enhancers	HMEC	breast
19	chr4:28655800-28656600	Enhancers	HUVEC	blood vessel
20	chr4:28656000-28656600	Enhancers	NHEK	skin

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