Variant report

Variant	nsv830130
Chromosome Location	chr4:160748243-160941680
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	chr4:160832633..160834306-chr4:160857852..160860490,2	MCF-7	breast:
2	chr4:160832633..160834306-chr4:160857852..160860490,2	MCF-7	breast:
3	chr4:160637612..160639722-chr4:160777878..160779378,2	K562	blood:
4	chr4:160685499..160686183-chr4:160832505..160833090,2	MCF-7	breast:
5	chr1:190073397..190073897-chr4:160930237..160930784,2	MCF-7	breast:
6	chr2:111484229..111485095-chr4:160826041..160826792,2	MCF-7	breast:
7	chr4:160920629..160923616-chr4:160947826..160949673,2	MCF-7	breast:
8	chr4:160868101..160868689-chr4:161096193..161097148,4	MCF-7	breast:

No data

Extended variants
information (count: 4010 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:4010 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563187573	chr4:160748258-160748259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368736038	chr4:160748266-160748267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113187348	chr4:160748353-160748354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370241753	chr4:160748383-160748384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548590511	chr4:160748444-160748445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568461147	chr4:160748445-160748446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527829013	chr4:160748453-160748454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538184830	chr4:160748480-160748481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62332993	chr4:160748484-160748485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs113952390	chr4:160748518-160748519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377119891	chr4:160748548-160748549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558398106	chr4:160748549-160748550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185123432	chr4:160748566-160748567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138400415	chr4:160748580-160748581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56126641	chr4:160748624-160748625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78574907	chr4:160748626-160748627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530986827	chr4:160748637-160748638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200553367	chr4:160748641-160748642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574359108	chr4:160748642-160748643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540276955	chr4:160748645-160748646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553604609	chr4:160748652-160748653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549310204	chr4:160748703-160748704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546452061	chr4:160748777-160748778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7694346	chr4:160748782-160748783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532093022	chr4:160748833-160748834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145338382	chr4:160748881-160748882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562076392	chr4:160748969-160748970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527691738	chr4:160748972-160748973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547841506	chr4:160748976-160748977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs137909829	chr4:160748996-160748997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532160560	chr4:160749008-160749009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551982289	chr4:160749025-160749026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77758219	chr4:160749032-160749033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71609057	chr4:160749046-160749047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368231933	chr4:160749056-160749057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189686713	chr4:160749089-160749090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554569860	chr4:160749107-160749108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4691618	chr4:160749123-160749124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs533565339	chr4:160749138-160749139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116147513	chr4:160749170-160749171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182710294	chr4:160749198-160749199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540034231	chr4:160749212-160749213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556838592	chr4:160749213-160749214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1457805	chr4:160749263-160749264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564305042	chr4:160749321-160749322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187903562	chr4:160749415-160749416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200524662	chr4:160749526-160749527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562269912	chr4:160749551-160749552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72978830	chr4:160749618-160749619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs193189455	chr4:160749619-160749620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19805367	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Mortal	21835882	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160745400-160750000	Weak transcription	HSMMtube	muscle
2	chr4:160749200-160749600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:160750000-160750400	Enhancers	HSMMtube	muscle
4	chr4:160757400-160757800	Enhancers	Brain Substantia Nigra	brain
5	chr4:160757800-160758200	Weak transcription	Brain Substantia Nigra	brain
6	chr4:160758200-160758600	Enhancers	Brain Anterior Caudate	brain
7	chr4:160758200-160758600	Enhancers	Brain Hippocampus Middle	brain
8	chr4:160758200-160759400	Enhancers	Brain Substantia Nigra	brain
9	chr4:160766400-160767000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:160767000-160768200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:160771000-160783800	Weak transcription	Pancreas	Pancrea
12	chr4:160776000-160776200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:160776400-160777000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:160777000-160778000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:160777400-160777600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:160777400-160778800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:160777600-160778000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:160777600-160778000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:160777600-160778200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:160777600-160778400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:160777600-160778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:160777600-160778800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:160777800-160779200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:160778200-160778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:160778600-160779000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:160778600-160779000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:160782200-160783000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:160783000-160784200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:160784200-160785200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:160784600-160784800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:160784800-160787600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:160787200-160799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:160787600-160788200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:160798400-160799400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:160799000-160799400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:160806200-160806600	Enhancers	Fetal Kidney	kidney
37	chr4:160807200-160809600	Weak transcription	Pancreas	Pancrea
38	chr4:160822200-160824800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:160822600-160822800	Enhancers	Pancreas	Pancrea
40	chr4:160822600-160823400	Enhancers	Fetal Kidney	kidney
41	chr4:160822600-160824600	Enhancers	Fetal Intestine Large	intestine
42	chr4:160822800-160829200	Weak transcription	Pancreas	Pancrea
43	chr4:160826000-160826400	Enhancers	HSMMtube	muscle
44	chr4:160827400-160828000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:160827600-160828000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:160829200-160829600	Genic enhancers	Pancreas	Pancrea
47	chr4:160829600-160830000	Enhancers	Pancreas	Pancrea
48	chr4:160836000-160836200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:160836400-160837000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:160837000-160837200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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