Variant report

Variant	esv2754286
Chromosome Location	chr4:133586208-133764270
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

(count:2 , 50 per page) page: 1

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

No data

Extended variants
information (count: 1041 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11725749	chr4:133586208-133586209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373328886	chr4:133586210-133586211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376103160	chr4:133586213-133586214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370463136	chr4:133586216-133586217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569299952	chr4:133586231-133586232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11733937	chr4:133586248-133586249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561984681	chr4:133586252-133586253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149306806	chr4:133586334-133586335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368376671	chr4:133586341-133586342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542536891	chr4:133586372-133586373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552515492	chr4:133586385-133586386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113312749	chr4:133586396-133586397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181087312	chr4:133586398-133586399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144537354	chr4:133586431-133586432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550562653	chr4:133586447-133586448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11725933	chr4:133586477-133586478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368082806	chr4:133586531-133586532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115033020	chr4:133586545-133586546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544774583	chr4:133586551-133586552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533096836	chr4:133586590-133586591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13129546	chr4:133586594-133586595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs57729029	chr4:133586619-133586620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184332978	chr4:133586653-133586654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188240071	chr4:133586706-133586707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79090557	chr4:133586723-133586724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569296504	chr4:133586726-133586727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534961637	chr4:133586756-133586757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537954960	chr4:133586798-133586799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556712761	chr4:133586822-133586823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567137107	chr4:133586826-133586827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180987924	chr4:133586836-133586837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552824168	chr4:133586861-133586862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115456176	chr4:133586900-133586901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7665575	chr4:133586934-133586935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186367511	chr4:133587005-133587006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368188629	chr4:133587024-133587025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575251647	chr4:133587059-133587060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12503184	chr4:133587073-133587074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113008476	chr4:133587114-133587115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560999992	chr4:133587132-133587133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568430018	chr4:133587236-133587237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11099201	chr4:133587276-133587277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190267597	chr4:133587314-133587315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142700263	chr4:133587315-133587316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11099202	chr4:133587323-133587324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs552499978	chr4:133587326-133587327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367573124	chr4:133599581-133599582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs545660662	chr4:133599596-133599597	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs78455498	chr4:133599634-133599635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs368151011	chr4:133602839-133602840	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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133581600-133586800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:133586800-133587400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:133602800-133604600	Enhancers	Dnd41	blood
4	chr4:133603600-133604000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:133604600-133605400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:133604600-133605400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:133626400-133627000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:133629000-133630000	Enhancers	HMEC	breast
9	chr4:133629800-133630200	Enhancers	Dnd41	blood
10	chr4:133630200-133630600	Flanking Active TSS	Dnd41	blood
11	chr4:133630600-133631200	Enhancers	Dnd41	blood
12	chr4:133632200-133632600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:133656400-133656800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:133658600-133658800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:133674600-133675600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:133687800-133689400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:133688800-133689400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:133690200-133690600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:133690200-133692400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:133709600-133710000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:133714200-133715000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:133719000-133719400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:133730200-133732600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:133730600-133731000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:133734800-133738600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:133736000-133738600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:133738600-133738800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr4:133738600-133739800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr4:133738800-133739600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr4:133738800-133739600	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr4:133738800-133739800	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr4:133739000-133739400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr4:133739000-133739600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr4:133739200-133739600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr4:133739600-133739800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:133740200-133740600	Active TSS	Fetal Heart	heart
37	chr4:133740400-133740600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:133746000-133747400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:133746200-133747400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:133748400-133748600	Active TSS	Brain Anterior Caudate	brain
41	chr4:133748600-133749000	Enhancers	Brain Angular Gyrus	brain
42	chr4:133748600-133749000	Enhancers	Brain Anterior Caudate	brain
43	chr4:133748800-133749000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:133749000-133749200	Active TSS	Brain Anterior Caudate	brain
45	chr4:133759400-133760000	ZNF genes & repeats	Aorta	Aorta
46	chr4:133759600-133759800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:133759600-133760000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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