Variant report

Variant	nsv880039
Chromosome Location	chr4:133609463-133750519
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

No data

Extended variants
information (count: 820 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:820 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79710224	chr4:133626403-133626404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571826596	chr4:133626430-133626431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180754494	chr4:133626465-133626466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186005242	chr4:133626484-133626485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545070832	chr4:133626486-133626487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372575081	chr4:133626500-133626501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376383309	chr4:133626533-133626534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567887142	chr4:133626536-133626537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192135461	chr4:133626605-133626606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553076823	chr4:133626610-133626611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572942882	chr4:133626615-133626616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538743691	chr4:133626650-133626651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374873232	chr4:133626703-133626704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558628924	chr4:133626727-133626728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577376216	chr4:133626748-133626749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543267838	chr4:133626764-133626765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150544718	chr4:133626824-133626825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565053064	chr4:133626982-133626983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2419792	chr4:133626987-133626988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376352831	chr4:133629005-133629006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146508948	chr4:133629010-133629011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531731431	chr4:133629051-133629052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548361355	chr4:133629052-133629053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192749540	chr4:133629057-133629058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184307736	chr4:133629100-133629101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80008861	chr4:133629106-133629107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370687300	chr4:133629169-133629170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12509245	chr4:133629205-133629206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367768800	chr4:133629214-133629215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560280233	chr4:133629244-133629245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187603936	chr4:133629257-133629258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558817834	chr4:133629258-133629259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575089869	chr4:133629276-133629277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544210049	chr4:133629331-133629332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554338809	chr4:133629402-133629403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148933474	chr4:133629412-133629413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs60938652	chr4:133629425-133629426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34626419	chr4:133629443-133629444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560301979	chr4:133629465-133629466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532611930	chr4:133629527-133629528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546039201	chr4:133629545-133629546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11938274	chr4:133629559-133629560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531581381	chr4:133629571-133629572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567139673	chr4:133629606-133629607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574620865	chr4:133629655-133629656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543716109	chr4:133629673-133629674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561976815	chr4:133629682-133629683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527777973	chr4:133629707-133629708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368680098	chr4:133629721-133629722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113430618	chr4:133629728-133629729	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:38 , 50 per page) page: 1

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

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