Variant report

Variant	esv2757944
Chromosome Location	chr4:97509566-97809092
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:1)
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	chr4:97796378..97798019-chr4:97799947..97801478,2	K562	blood:
2	chr4:97656660..97659405-chr4:97660873..97663604,2	MCF-7	breast:
3	chr4:97518461..97520447-chr4:97526474..97528886,2	MCF-7	breast:
4	chr4:97589407..97592005-chr4:97594288..97596351,2	K562	blood:
5	chr4:97772208..97772788-chr5:3879612..3880521,2	MCF-7	breast:
6	chr3:64742113..64742693-chr4:97580731..97581568,2	MCF-7	breast:
7	chr1:217021965..217022719-chr4:97692378..97693092,2	MCF-7	breast:
8	chr4:97599088..97601352-chr4:97603255..97605429,2	K562	blood:
9	chr3:68927346..68928063-chr4:97807302..97808145,2	MCF-7	breast:
10	chr4:97745229..97747747-chr4:97748843..97751220,2	MCF-7	breast:
11	chr4:97572650..97574454-chr4:97574675..97577193,2	K562	blood:
12	chr4:97589407..97592005-chr4:97594288..97596351,2	K562	blood:
13	chr4:97796378..97798019-chr4:97799947..97801478,2	K562	blood:
14	chr4:97599088..97601352-chr4:97603255..97605429,2	K562	blood:
15	chr4:97572650..97574454-chr4:97574675..97577193,2	K562	blood:
16	chr4:97518461..97520447-chr4:97526474..97528886,2	MCF-7	breast:
17	chr2:101031890..101032574-chr4:97769795..97770627,2	HCT-116	colon:
18	chr4:97745229..97747747-chr4:97748843..97751220,2	MCF-7	breast:
19	chr4:97656660..97659405-chr4:97660873..97663604,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDHA2-1	chr4:97739416-97740015	ENSG00000248510

No data

Variant related genes	Relation type
ENSG00000115526	chromatin interactions

Extended variants
information (count: 4367 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:4367 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555583019	chr4:97512417-97512418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573971122	chr4:97512429-97512430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534923442	chr4:97512436-97512437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553353327	chr4:97512462-97512463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34684469	chr4:97512482-97512483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550861568	chr4:97512483-97512484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545421556	chr4:97512526-97512527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567905634	chr4:97512541-97512542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563612805	chr4:97512556-97512557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192466280	chr4:97512577-97512578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146642141	chr4:97512582-97512583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184518431	chr4:97512608-97512609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201046363	chr4:97512627-97512628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374983330	chr4:97512628-97512629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111260132	chr4:97512649-97512650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542845176	chr4:97512666-97512667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548063082	chr4:97512675-97512676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188962497	chr4:97512713-97512714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528715181	chr4:97512719-97512720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs36092553	chr4:97512740-97512741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181516346	chr4:97512743-97512744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532775537	chr4:97512760-97512761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566929121	chr4:97512799-97512800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376835400	chr4:97512808-97512809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547195207	chr4:97512812-97512813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141392081	chr4:97512841-97512842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139265659	chr4:97512858-97512859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537189405	chr4:97512868-97512869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371133733	chr4:97512905-97512906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113232213	chr4:97512945-97512946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116626583	chr4:97512969-97512970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6841831	chr4:97513059-97513060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554517007	chr4:97513060-97513061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569832217	chr4:97513063-97513064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35433600	chr4:97513081-97513082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77637909	chr4:97513139-97513140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113844449	chr4:97513145-97513146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556088397	chr4:97513158-97513159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575610890	chr4:97513159-97513160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370019676	chr4:97513184-97513185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543111979	chr4:97513187-97513188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77165697	chr4:97513225-97513226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140443817	chr4:97513241-97513242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111346511	chr4:97513255-97513256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184963543	chr4:97513263-97513264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538596767	chr4:97513269-97513270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552805631	chr4:97513315-97513316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565215430	chr4:97513370-97513371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13111155	chr4:97513390-97513391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544668320	chr4:97513396-97513397	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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97512400-97514000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:97513600-97513800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:97513600-97514000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:97513600-97514200	Enhancers	Fetal Lung	lung
5	chr4:97513800-97514000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:97514000-97519600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:97514200-97514600	Weak transcription	Fetal Lung	lung
8	chr4:97514600-97515000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:97514600-97515200	Enhancers	Fetal Heart	heart
10	chr4:97514600-97515200	Enhancers	Fetal Lung	lung
11	chr4:97514600-97515200	Enhancers	Stomach Mucosa	stomach
12	chr4:97514600-97515200	Enhancers	HepG2	liver
13	chr4:97514800-97515200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:97514800-97515200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:97515200-97519000	Weak transcription	Fetal Heart	heart
16	chr4:97515200-97519800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:97515200-97520200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:97519000-97519600	Enhancers	Ovary	ovary
19	chr4:97519000-97521000	Enhancers	Fetal Heart	heart
20	chr4:97519400-97519800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:97519600-97520000	Flanking Active TSS	Ovary	ovary
22	chr4:97519600-97520600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:97519600-97520600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:97519600-97521600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:97519600-97521600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:97519800-97521200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:97519800-97521600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:97520000-97523800	Weak transcription	Ovary	ovary
29	chr4:97520200-97521400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:97520200-97521400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:97520200-97521600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:97520600-97523600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:97521000-97521600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:97521000-97521600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:97521000-97524800	Weak transcription	Fetal Heart	heart
36	chr4:97523600-97524000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:97523600-97524000	Enhancers	Dnd41	blood
38	chr4:97523800-97524200	Enhancers	Ovary	ovary
39	chr4:97524200-97525000	Weak transcription	Ovary	ovary
40	chr4:97524800-97525400	Enhancers	Fetal Heart	heart
41	chr4:97524800-97525400	Enhancers	Fetal Lung	lung
42	chr4:97525000-97525200	Enhancers	Ovary	ovary
43	chr4:97527600-97527800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:97527800-97528000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:97527800-97538200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:97533600-97534000	Enhancers	Fetal Heart	heart
47	chr4:97534800-97535200	Enhancers	Dnd41	blood
48	chr4:97538200-97538800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:97538400-97539000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:97544800-97545400	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links