Variant report

Variant	nsv879634
Chromosome Location	chr4:97371381-97727113
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:19)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:97656660..97659405-chr4:97660873..97663604,2	MCF-7	breast:
2	chr4:97589407..97592005-chr4:97594288..97596351,2	K562	blood:
3	chr4:97384029..97386680-chr4:97505005..97507680,2	K562	blood:
4	chr3:64742113..64742693-chr4:97580731..97581568,2	MCF-7	breast:
5	chr4:97348705..97351235-chr4:97411627..97413798,2	K562	blood:
6	chr4:97589407..97592005-chr4:97594288..97596351,2	K562	blood:
7	chr4:97599088..97601352-chr4:97603255..97605429,2	K562	blood:
8	chr4:97384029..97386680-chr4:97505005..97507680,2	K562	blood:
9	chr4:97572650..97574454-chr4:97574675..97577193,2	K562	blood:
10	chr4:97518461..97520447-chr4:97526474..97528886,2	MCF-7	breast:
11	chr4:97490329..97491913-chr4:97493450..97495656,2	K562	blood:
12	chr1:217021965..217022719-chr4:97692378..97693092,2	MCF-7	breast:
13	chr4:97599088..97601352-chr4:97603255..97605429,2	K562	blood:
14	chr4:97518461..97520447-chr4:97526474..97528886,2	MCF-7	breast:
15	chr4:97404242..97405044-chr4:98905771..98906367,3	MCF-7	breast:
16	chr4:97490329..97491913-chr4:97493450..97495656,2	K562	blood:
17	chr4:97572650..97574454-chr4:97574675..97577193,2	K562	blood:
18	chr4:97448242..97448901-chr4:116774488..116775301,2	MCF-7	breast:
19	chr4:97656660..97659405-chr4:97660873..97663604,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDHA2-1	chr4:97502880-97502945	ENSG00000248510
2	lnc-PDHA2-4	chr4:97450875-97450968	ucscGeneNc_uc003hts_1
3	lnc-PDHA2-4	chr4:97503034-97504626	ucscGeneNc_uc003hts_1
4	lnc-PDHA2-1	chr4:97372643-97372712	ENSG00000248510

No data

Extended variants
information (count: 6286 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:6286 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10013515	chr4:97371381-97371382	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543788585	chr4:97371387-97371388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563480451	chr4:97371402-97371403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184652038	chr4:97371403-97371404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564433063	chr4:97371428-97371429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs546086916	chr4:97371457-97371458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs138127229	chr4:97371473-97371474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs142397774	chr4:97371483-97371484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs570489309	chr4:97371490-97371491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs548342349	chr4:97371511-97371512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs568897280	chr4:97371524-97371525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs376048268	chr4:97371528-97371529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568138806	chr4:97371588-97371589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs13102896	chr4:97371590-97371591	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368502277	chr4:97372698-97372699	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs534931565	chr4:97372699-97372700	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs561028309	chr4:97391621-97391622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186030015	chr4:97391622-97391623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553636987	chr4:97391677-97391678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529840824	chr4:97391698-97391699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375845109	chr4:97391706-97391707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543524163	chr4:97391779-97391780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6856653	chr4:97391780-97391781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372970067	chr4:97391793-97391794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532004142	chr4:97391806-97391807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7698381	chr4:97391818-97391819	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190495808	chr4:97391844-97391845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181488496	chr4:97391929-97391930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140149826	chr4:97391950-97391951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567498270	chr4:97391975-97391976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536381799	chr4:97391976-97391977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6532607	chr4:97392005-97392006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs150251618	chr4:97392021-97392022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138874202	chr4:97392027-97392028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544107213	chr4:97392062-97392063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186607548	chr4:97392066-97392067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72686048	chr4:97392122-97392123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113415740	chr4:97392140-97392141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565449578	chr4:97392141-97392142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149399790	chr4:97392158-97392159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145911618	chr4:97392175-97392176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562099404	chr4:97392181-97392182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532730999	chr4:97392263-97392264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112347774	chr4:97392264-97392265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543547015	chr4:97392272-97392273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563235011	chr4:97392289-97392290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532187576	chr4:97392291-97392292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545491813	chr4:97392384-97392385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559268395	chr4:97392455-97392456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182927862	chr4:97392463-97392464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97371200-97371600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:97391600-97392800	Enhancers	Stomach Mucosa	stomach
3	chr4:97392200-97392400	Enhancers	Fetal Intestine Large	intestine
4	chr4:97392200-97392400	Enhancers	Fetal Intestine Small	intestine
5	chr4:97392400-97393800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:97392600-97393600	Weak transcription	Fetal Intestine Large	intestine
7	chr4:97392800-97393600	Weak transcription	Stomach Mucosa	stomach
8	chr4:97393600-97394000	Enhancers	Fetal Intestine Large	intestine
9	chr4:97393600-97395000	Enhancers	Stomach Mucosa	stomach
10	chr4:97393800-97394200	Enhancers	Fetal Intestine Small	intestine
11	chr4:97393800-97395000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:97394000-97394400	Enhancers	Hela-S3	cervix
13	chr4:97395000-97395600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:97395200-97395600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:97395400-97395800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:97395400-97395800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:97397200-97399600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:97398600-97399000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr4:97399200-97400200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:97400200-97404800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:97404800-97405000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:97404800-97405400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:97404800-97405400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:97404800-97406000	ZNF genes & repeats	Dnd41	blood
25	chr4:97405800-97406400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:97406600-97407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:97407200-97407400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:97407400-97408200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:97407400-97408200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:97407600-97408400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:97408000-97408600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:97408000-97408600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:97415400-97416400	ZNF genes & repeats	Dnd41	blood
34	chr4:97424200-97424600	Enhancers	Gastric	stomach
35	chr4:97424600-97425800	Weak transcription	Gastric	stomach
36	chr4:97424800-97425400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:97425200-97425600	Weak transcription	Dnd41	blood
38	chr4:97425400-97425800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:97425600-97426000	ZNF genes & repeats	Dnd41	blood
40	chr4:97425800-97426000	Enhancers	Gastric	stomach
41	chr4:97425800-97426600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr4:97426000-97427400	Weak transcription	Dnd41	blood
43	chr4:97427400-97430000	Enhancers	Dnd41	blood
44	chr4:97430000-97430800	Flanking Active TSS	Dnd41	blood
45	chr4:97430400-97430800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:97430800-97432800	Enhancers	Dnd41	blood
47	chr4:97432800-97433200	Weak transcription	Dnd41	blood
48	chr4:97433800-97434200	ZNF genes & repeats	Dnd41	blood
49	chr4:97434200-97435200	Weak transcription	Dnd41	blood
50	chr4:97435200-97435600	Enhancers	Dnd41	blood

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