Variant report

Variant	nsv878751
Chromosome Location	chr4:21712050-21793807
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:18)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:21793571..21796261-chr4:21796696..21799237,2	MCF-7	breast:
2	chr4:21513660..21514733-chr4:21769803..21771071,4	MCF-7	breast:
3	chr4:21755284..21757367-chr4:21761747..21763856,2	K562	blood:
4	chr4:21769756..21770575-chr4:22358426..22359045,2	MCF-7	breast:
5	chr4:21790330..21793132-chr4:22390550..22391689,10	MCF-7	breast:
6	chr4:21783831..21784384-chr5:62448794..62449526,2	MCF-7	breast:
7	chr4:21765094..21766763-chr4:21768387..21770633,2	K562	blood:
8	chr4:21765094..21766763-chr4:21768387..21770633,2	K562	blood:
9	chr4:21508722..21509309-chr4:21767490..21768052,2	MCF-7	breast:
10	chr4:21513432..21514751-chr4:21767040..21768803,10	MCF-7	breast:
11	chr4:21790239..21792742-chr4:22389960..22391772,13	MCF-7	breast:
12	chr4:21513547..21514492-chr4:21769669..21770605,6	MCF-7	breast:
13	chr4:21791838..21792739-chr4:22130763..22131377,2	MCF-7	breast:
14	chr12:116172339..116173172-chr4:21725120..21725961,2	MCF-7	breast:
15	chr4:21791076..21791579-chr4:22691911..22692590,2	K562	blood:
16	chr4:21513582..21515656-chr4:21764630..21766290,2	MCF-7	breast:
17	chr4:21755284..21757367-chr4:21761747..21763856,2	K562	blood:
18	chr4:21790635..21791482-chr4:22083518..22084264,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR125-4	chr4:21764544-21764655	NONHSAT095743
2	lnc-GPR125-4	chr4:21764544-21764652	NONHSAT095742
3	lnc-PACRGL-4	chr4:21720100-21720649	ENSG00000248343.1
4	lnc-GPR125-4	chr4:21731473-21731735	NONHSAT095743

No data

Extended variants
information (count: 3019 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:3019 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1503976	chr4:21712050-21712051	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1503975	chr4:21712106-21712107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145776297	chr4:21712122-21712123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551961049	chr4:21712181-21712182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570116947	chr4:21712222-21712223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115254798	chr4:21712223-21712224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545653784	chr4:21712225-21712226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78362663	chr4:21712262-21712263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144444757	chr4:21712317-21712318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534311708	chr4:21712372-21712373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572414321	chr4:21712410-21712411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76012092	chr4:21712420-21712421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146635021	chr4:21712441-21712442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538312755	chr4:21712488-21712489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557133382	chr4:21712495-21712496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141384013	chr4:21712507-21712508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185400695	chr4:21712541-21712542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190649200	chr4:21712553-21712554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561616332	chr4:21712575-21712576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541636733	chr4:21712601-21712602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12649578	chr4:21712639-21712640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191409596	chr4:21712683-21712684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183936148	chr4:21712696-21712697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545145591	chr4:21712729-21712730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112421856	chr4:21712749-21712750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74286723	chr4:21712769-21712770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530999838	chr4:21712797-21712798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541016260	chr4:21712803-21712804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188619644	chr4:21712824-21712825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372919970	chr4:21712829-21712830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561240185	chr4:21712834-21712835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528711070	chr4:21712854-21712855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554712411	chr4:21712863-21712864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150923751	chr4:21712912-21712913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140734191	chr4:21712932-21712933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111813288	chr4:21712945-21712946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550381560	chr4:21712946-21712947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9997043	chr4:21712955-21712956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9997062	chr4:21713019-21713020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554758105	chr4:21713023-21713024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573183733	chr4:21713030-21713031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534047190	chr4:21713043-21713044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181372358	chr4:21713047-21713048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75019536	chr4:21713060-21713061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545520114	chr4:21713064-21713065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563624590	chr4:21713076-21713077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575843481	chr4:21713087-21713088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146726326	chr4:21713096-21713097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369264900	chr4:21713099-21713100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572426532	chr4:21713103-21713104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	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
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21711000-21712200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:21711400-21712400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr4:21711400-21712400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:21711600-21712200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:21711600-21712200	Enhancers	Colon Smooth Muscle	Colon
6	chr4:21711600-21712400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:21711600-21712400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:21711600-21712400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:21711600-21712400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:21711600-21712800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:21711800-21712200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:21711800-21712200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:21711800-21712200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:21711800-21712400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:21711800-21712400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:21711800-21712400	Enhancers	Ovary	ovary
17	chr4:21711800-21712600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:21711800-21712600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:21712000-21712400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:21712400-21717400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:21712400-21718400	Weak transcription	Ovary	ovary
22	chr4:21717400-21717800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:21718400-21718600	Enhancers	Ovary	ovary
24	chr4:21720000-21720200	Enhancers	HMEC	breast
25	chr4:21723400-21724600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:21723600-21724000	Enhancers	Fetal Heart	heart
27	chr4:21723800-21724200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:21723800-21724200	Enhancers	Fetal Brain Male	brain
29	chr4:21723800-21724400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:21723800-21724400	Enhancers	HMEC	breast
31	chr4:21724000-21727800	Weak transcription	Fetal Heart	heart
32	chr4:21724200-21726800	Weak transcription	Fetal Brain Male	brain
33	chr4:21724600-21726200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:21726200-21727200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:21726800-21727200	Enhancers	Fetal Brain Male	brain
36	chr4:21727200-21728200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:21727200-21729400	Weak transcription	Fetal Brain Male	brain
38	chr4:21727600-21728400	Enhancers	Colon Smooth Muscle	Colon
39	chr4:21727600-21728400	Enhancers	Stomach Mucosa	stomach
40	chr4:21727600-21728600	Enhancers	HUVEC	blood vessel
41	chr4:21727800-21728200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:21727800-21728400	Enhancers	Fetal Heart	heart
43	chr4:21728200-21728600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:21728200-21729000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:21728400-21729800	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:21729800-21730600	Enhancers	Colon Smooth Muscle	Colon
47	chr4:21730600-21735600	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:21735400-21735800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:21735400-21736800	Enhancers	Fetal Heart	heart
50	chr4:21735600-21736000	Enhancers	Colon Smooth Muscle	Colon

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