Variant report

Variant	nsv594141
Chromosome Location	chr4:49113125-49189801
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	chr2:89879085..89879687-chr4:49152239..49152833,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CWH43-2	chr4:49171338-49171778	NONHSAT096308
2	lnc-CWH43-2	chr4:49175125-49175286	NONHSAT096308

Extended variants
information (count: 10119 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:10119 , 50 per page) page: 1 2 3 4 5 6 7 ... 203

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7436959	chr4:49113125-49113126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs371042501	chr4:49113134-49113135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111204207	chr4:49113135-49113136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs199840165	chr4:49113138-49113139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs201947332	chr4:49113139-49113140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111204208	chr4:49113140-49113141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs12505332	chr4:49113143-49113144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs533886575	chr4:49113158-49113159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs373093303	chr4:49113160-49113161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201086672	chr4:49113165-49113166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs202135792	chr4:49113169-49113170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs62637477	chr4:49113183-49113184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78585627	chr4:49113185-49113186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs62637478	chr4:49113188-49113189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375897090	chr4:49113196-49113197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs139243212	chr4:49113199-49113200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs199883358	chr4:49113201-49113202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111204210	chr4:49113204-49113205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201574810	chr4:49113209-49113210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199922742	chr4:49113215-49113216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111215584	chr4:49113219-49113220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368680460	chr4:49113221-49113222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111204211	chr4:49113224-49113225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111204212	chr4:49113228-49113229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558538198	chr4:49113231-49113232	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111149064	chr4:49113239-49113240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369964962	chr4:49113241-49113242	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62637479	chr4:49113245-49113246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201862090	chr4:49113246-49113247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62637480	chr4:49113250-49113251	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199871832	chr4:49113251-49113252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576691471	chr4:49113255-49113256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111464662	chr4:49113260-49113261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79040505	chr4:49113263-49113264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537773337	chr4:49113271-49113272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148757713	chr4:49113275-49113276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113629849	chr4:49113276-49113277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144228539	chr4:49113280-49113281	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201466875	chr4:49113286-49113287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62637481	chr4:49113287-49113288	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200971380	chr4:49113291-49113292	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62294234	chr4:49113294-49113295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556302725	chr4:49113298-49113299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574580172	chr4:49113299-49113300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62294235	chr4:49113300-49113301	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370040352	chr4:49113311-49113312	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201861794	chr4:49113325-49113326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377548966	chr4:49113333-49113334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371046045	chr4:49113334-49113335	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373602282	chr4:49113337-49113338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1350 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49098200-49123400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:49098200-49123400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr4:49098200-49123400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr4:49098200-49123400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr4:49098200-49123600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr4:49098200-49123600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr4:49104200-49123400	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr4:49104200-49123600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr4:49104400-49113200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
10	chr4:49104400-49113400	ZNF genes & repeats	Left Ventricle	heart
11	chr4:49104400-49115600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
12	chr4:49104400-49123200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr4:49104400-49123200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr4:49104400-49123200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:49104400-49123200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:49104400-49123200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
17	chr4:49104400-49123200	ZNF genes & repeats	Fetal Lung	lung
18	chr4:49104400-49123200	ZNF genes & repeats	Pancreas	Pancrea
19	chr4:49104400-49123200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
20	chr4:49104400-49123400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:49104400-49123400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:49104400-49123400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr4:49104400-49123400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:49104400-49123400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:49104400-49123400	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr4:49104400-49123400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:49104400-49123400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:49104400-49123400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:49104400-49123400	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr4:49104400-49123400	ZNF genes & repeats	Liver	Liver
31	chr4:49104400-49123400	ZNF genes & repeats	Brain Anterior Caudate	brain
32	chr4:49104400-49123400	ZNF genes & repeats	Colonic Mucosa	Colon
33	chr4:49104400-49123400	ZNF genes & repeats	Colon Smooth Muscle	Colon
34	chr4:49104400-49123400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr4:49104400-49123400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
36	chr4:49104400-49123400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
37	chr4:49104400-49123400	ZNF genes & repeats	Dnd41	blood
38	chr4:49104400-49123600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr4:49104600-49123200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:49104600-49123200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr4:49104600-49123200	ZNF genes & repeats	Fetal Stomach	stomach
42	chr4:49104600-49123400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr4:49104600-49123400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr4:49104600-49123400	ZNF genes & repeats	Spleen	Spleen
45	chr4:49107800-49123400	ZNF genes & repeats	Gastric	stomach
46	chr4:49108800-49123400	ZNF genes & repeats	Fetal Brain Male	brain
47	chr4:49109200-49123400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:49111600-49113200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:49111600-49113200	ZNF genes & repeats	Fetal Heart	heart
50	chr4:49111600-49113200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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