Variant report

Variant	esv2754902
Chromosome Location	chr4:133569612-133774665
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:11)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:133699714..133704112-chr4:133706200..133709906,4	MCF-7	breast:
2	chr4:133770404..133772149-chr4:133774462..133777277,2	MCF-7	breast:
3	chr4:133594931..133597258-chr4:133609653..133611302,2	K562	blood:
4	chr4:133645450..133647639-chr4:133648303..133650191,2	MCF-7	breast:
5	chr4:133628502..133630022-chr4:133631259..133633851,2	K562	blood:
6	chr4:133699714..133704112-chr4:133706200..133709906,4	MCF-7	breast:
7	chr4:133628502..133630022-chr4:133631259..133633851,2	K562	blood:
8	chr13:34180510..34181237-chr4:133619979..133620709,2	MCF-7	breast:
9	chr4:133594931..133597258-chr4:133609653..133611302,2	K562	blood:
10	chr4:133770404..133772149-chr4:133774462..133777277,2	MCF-7	breast:
11	chr4:133645450..133647639-chr4:133648303..133650191,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-1	chr4:133599578-133599658	ENSG00000251398.1
2	lnc-RP11-62N21.1.1-3	chr4:133757927-133758349	XLOC_004079
3	lnc-PCDH10-1	chr4:133583417-133583520	ENSG00000251398.1

No data

Extended variants
information (count: 1710 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1710 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574628933	chr4:133571802-133571803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540536523	chr4:133571813-133571814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559865092	chr4:133571836-133571837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575125492	chr4:133571843-133571844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192164385	chr4:133571854-133571855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545874620	chr4:133571889-133571890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562562739	chr4:133571895-133571896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111588275	chr4:133571896-133571897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548780115	chr4:133571916-133571917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535506491	chr4:133571930-133571931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186792960	chr4:133571948-133571949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527947612	chr4:133571997-133571998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377523467	chr4:133572029-133572030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548094135	chr4:133572043-133572044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570712959	chr4:133572044-133572045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201877414	chr4:133572051-133572052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374136792	chr4:133572065-133572066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191582072	chr4:133572075-133572076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182514383	chr4:133572078-133572079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13103245	chr4:133572084-133572085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13131066	chr4:133572087-133572088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368568898	chr4:133572088-133572089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185631491	chr4:133572091-133572092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189648220	chr4:133572097-133572098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13131076	chr4:133572106-133572107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112984486	chr4:133572113-133572114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539436098	chr4:133572119-133572120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs36214118	chr4:133572120-133572121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532077038	chr4:133572124-133572125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549808708	chr4:133572153-133572154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140254025	chr4:133572155-133572156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562535669	chr4:133572214-133572215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569791482	chr4:133572309-133572310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544440151	chr4:133572318-133572319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564189579	chr4:133572352-133572353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555418634	chr4:133572379-133572380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554432828	chr4:133572388-133572389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568266877	chr4:133572467-133572468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11935153	chr4:133572493-133572494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76593469	chr4:133572501-133572502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76889565	chr4:133572520-133572521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577251184	chr4:133572555-133572556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11721941	chr4:133572572-133572573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556240577	chr4:133572581-133572582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576194734	chr4:133572582-133572583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541952458	chr4:133572588-133572589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562091827	chr4:133572599-133572600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560138133	chr4:133572643-133572644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527905634	chr4:133572658-133572659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541300993	chr4:133572671-133572672	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133571800-133573800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:133572200-133572600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:133572400-133573000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:133572400-133573000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:133572400-133573000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:133572400-133573200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:133572600-133573400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:133573800-133579400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:133578200-133579400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:133579400-133580000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:133579400-133580000	ZNF genes & repeats	Dnd41	blood
12	chr4:133579400-133580200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:133579600-133579800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:133579600-133579800	Enhancers	Gastric	stomach
15	chr4:133579600-133579800	Enhancers	Spleen	Spleen
16	chr4:133579800-133580200	Active TSS	Spleen	Spleen
17	chr4:133580000-133580200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:133580400-133580600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:133581200-133581600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:133581600-133586800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:133585200-133585400	Enhancers	Pancreas	Pancrea
22	chr4:133586800-133587400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:133602800-133604600	Enhancers	Dnd41	blood
24	chr4:133603600-133604000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:133604600-133605400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:133604600-133605400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:133626400-133627000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:133629000-133630000	Enhancers	HMEC	breast
29	chr4:133629800-133630200	Enhancers	Dnd41	blood
30	chr4:133630200-133630600	Flanking Active TSS	Dnd41	blood
31	chr4:133630600-133631200	Enhancers	Dnd41	blood
32	chr4:133632200-133632600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:133656400-133656800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr4:133658600-133658800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:133674600-133675600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:133687800-133689400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:133688800-133689400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:133690200-133690600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:133690200-133692400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:133709600-133710000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:133714200-133715000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:133719000-133719400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:133730200-133732600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:133730600-133731000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:133734800-133738600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:133736000-133738600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:133738600-133738800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr4:133738600-133739800	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr4:133738800-133739600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr4:133738800-133739600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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