Variant report

Variant	nsv879621
Chromosome Location	chr4:95046907-95099194
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:5)
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	chr4:94631324..94632139-chr4:95048906..95049577,2	MCF-7	breast:
2	chr4:95096749..95098313-chr4:95101712..95103990,2	K562	blood:
3	chr4:94712445..94713368-chr4:95047510..95048534,4	MCF-7	breast:
4	chr4:94712668..94713389-chr4:95048586..95049226,3	MCF-7	breast:
5	chr4:95053044..95055234-chr4:95055745..95057514,2	K562	blood:
6	chr4:94818194..94819480-chr4:95047856..95049178,6	MCF-7	breast:
7	chr4:95069398..95071013-chr4:95126852..95129256,2	MCF-7	breast:
8	chr4:95094963..95096584-chr4:95096681..95098820,2	K562	blood:
9	chr4:95053044..95055234-chr4:95055745..95057514,2	K562	blood:
10	chr4:94712548..94713256-chr4:95047502..95048048,2	K562	blood:
11	chr4:94712445..94713412-chr4:95047150..95048494,9	MCF-7	breast:
12	chr4:95089461..95092214-chr4:95128787..95131060,3	MCF-7	breast:
13	chr4:95094963..95096584-chr4:95096681..95098820,2	K562	blood:
14	chr4:94818426..94818969-chr4:95048490..95049106,2	K562	blood:
15	chr4:95048687..95051315-chr4:95128789..95130574,2	MCF-7	breast:
16	chr4:94786106..94788716-chr4:95078426..95081132,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPGDS-1	chr4:95083748-95083872	ENSG00000246541
2	lnc-HPGDS-1	chr4:95057175-95057310	ENSG00000246541
3	lnc-HPGDS-1	chr4:95086999-95087076	ENSG00000246541
4	lnc-HPGDS-1	chr4:95085049-95085080	ENSG00000246541
5	lnc-HPGDS-1	chr4:95086287-95086347	ENSG00000246541

No data

Variant related genes	Relation type
ENSG00000163104	chromatin interactions
ENSG00000246541	chromatin interactions
CCL1	miRNA target sites
RYR2	miRNA target sites
KIF5C	miRNA target sites
CETN2	miRNA target sites

Extended variants
information (count: 2144 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2144 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4693368	chr4:95046907-95046908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183821766	chr4:95046930-95046931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188591577	chr4:95046982-95046983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533978778	chr4:95047035-95047036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543861775	chr4:95047064-95047065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377749711	chr4:95047068-95047069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550699024	chr4:95047139-95047140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570507165	chr4:95047159-95047160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180732224	chr4:95047249-95047250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117676442	chr4:95047293-95047294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573495323	chr4:95047345-95047346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562842331	chr4:95047357-95047358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78463964	chr4:95047375-95047376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552174925	chr4:95047386-95047387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184580491	chr4:95047397-95047398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533086984	chr4:95047442-95047443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190316686	chr4:95047445-95047446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555929842	chr4:95047468-95047469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575209807	chr4:95047469-95047470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544315177	chr4:95047600-95047601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80339681	chr4:95047606-95047607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369972318	chr4:95047611-95047612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564216637	chr4:95047678-95047679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182551447	chr4:95047697-95047698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116357893	chr4:95047715-95047716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142534504	chr4:95047733-95047734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149090336	chr4:95047742-95047743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559939509	chr4:95047770-95047771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548861548	chr4:95047818-95047819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199620819	chr4:95047831-95047832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186740524	chr4:95047846-95047847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527451476	chr4:95047849-95047850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17021364	chr4:95047893-95047894	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570577500	chr4:95047899-95047900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190450627	chr4:95047900-95047901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142206272	chr4:95047945-95047946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539468411	chr4:95047997-95047998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146750264	chr4:95048035-95048036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567634284	chr4:95048074-95048075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556101304	chr4:95048116-95048117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538282571	chr4:95048149-95048150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567006442	chr4:95048212-95048213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116766818	chr4:95048300-95048301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181627181	chr4:95048477-95048478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549895237	chr4:95048492-95048493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571575713	chr4:95048581-95048582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79397799	chr4:95048614-95048615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575792401	chr4:95048621-95048622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538469492	chr4:95048668-95048669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185566887	chr4:95048686-95048687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95046600-95047000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:95047000-95054000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:95047800-95048000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:95052200-95061400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:95054000-95055200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:95055200-95055800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:95055800-95056400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:95056400-95063400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:95061200-95061400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:95061400-95061600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:95061400-95062200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:95061600-95062200	Enhancers	Fetal Intestine Large	intestine
13	chr4:95061600-95062200	Enhancers	Fetal Intestine Small	intestine
14	chr4:95061600-95069000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:95061800-95062600	Enhancers	Fetal Heart	heart
16	chr4:95062000-95062400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:95062000-95062400	Enhancers	Gastric	stomach
18	chr4:95062400-95069000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:95063400-95064800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:95063800-95064200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:95063800-95064800	Enhancers	HepG2	liver
22	chr4:95064200-95065200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:95064800-95069000	Weak transcription	HepG2	liver
24	chr4:95065200-95065600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:95065600-95068600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:95065800-95066000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:95066200-95069000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:95068600-95069000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:95068600-95069000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr4:95069000-95069200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:95069000-95069200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:95069000-95069200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr4:95069000-95069200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr4:95069000-95069200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr4:95069000-95069200	Enhancers	K562	blood
36	chr4:95069000-95069400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:95069000-95069400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:95069000-95069600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr4:95069000-95069600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr4:95069000-95069600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:95069000-95069600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:95069000-95069600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:95069000-95069600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr4:95069000-95069600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:95069000-95069600	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr4:95069000-95069600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr4:95069000-95069600	Active TSS	Stomach Mucosa	stomach
48	chr4:95069000-95069600	Active TSS	HepG2	liver
49	chr4:95069000-95069800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:95069000-95069800	Active TSS	HUES64 Cell Line	embryonic stem cell

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