Variant report

Variant	esv2755953
Chromosome Location	chr4:160557413-160626250
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:1)
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	chr4:160583924..160586577-chr4:160586636..160588662,2	MCF-7	breast:
2	chr4:160581437..160584184-chr4:160604611..160607448,2	MCF-7	breast:
3	chr4:160590380..160592983-chr4:160712961..160714849,2	MCF-7	breast:
4	chr4:160588470..160591367-chr4:160593037..160595760,2	MCF-7	breast:
5	chr4:160588470..160591367-chr4:160593037..160595760,2	MCF-7	breast:
6	chr4:160606063..160608102-chr4:160627902..160629687,2	MCF-7	breast:
7	chr4:160581437..160584184-chr4:160604611..160607448,2	MCF-7	breast:
8	chr4:160583924..160586577-chr4:160586636..160588662,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf45-1	chr4:160587655-160587810	XLOC_004140

No data

Extended variants
information (count: 2542 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2542 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4303932	chr4:160557413-160557414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185813142	chr4:160557436-160557437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149873406	chr4:160557485-160557486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13149175	chr4:160557536-160557537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564007691	chr4:160557537-160557538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372220911	chr4:160557559-160557560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191005767	chr4:160557572-160557573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563580821	chr4:160557585-160557586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67111572	chr4:160557607-160557608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549267443	chr4:160557637-160557638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11737328	chr4:160557678-160557679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571694542	chr4:160557689-160557690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534726075	chr4:160557707-160557708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551788784	chr4:160557770-160557771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571629449	chr4:160557773-160557774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114049033	chr4:160557813-160557814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145130951	chr4:160557822-160557823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576315535	chr4:160557836-160557837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540302351	chr4:160557866-160557867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10213093	chr4:160557908-160557909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544782712	chr4:160557915-160557916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76884966	chr4:160557943-160557944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201201295	chr4:160557956-160557957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7677200	chr4:160557967-160557968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572336951	chr4:160557971-160557972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148679063	chr4:160558000-160558001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575768463	chr4:160558054-160558055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11721796	chr4:160558082-160558083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565532383	chr4:160558085-160558086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112857213	chr4:160558180-160558181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188642862	chr4:160558195-160558196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147815657	chr4:160558267-160558268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79511261	chr4:160558324-160558325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192735563	chr4:160558425-160558426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2047797	chr4:160558452-160558453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559782005	chr4:160558482-160558483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528810058	chr4:160558484-160558485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4579072	chr4:160558592-160558593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571658647	chr4:160558628-160558629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532028499	chr4:160558640-160558641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543799269	chr4:160558644-160558645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182359547	chr4:160558690-160558691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562255438	chr4:160558697-160558698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529723076	chr4:160558721-160558722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116240997	chr4:160558744-160558745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77187641	chr4:160558749-160558750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535627675	chr4:160558805-160558806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111614153	chr4:160558813-160558814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141670008	chr4:160558814-160558815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375478171	chr4:160558837-160558838	Weak transcription	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
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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160553600-160576200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:160559000-160560200	Enhancers	HepG2	liver
3	chr4:160559200-160560000	Enhancers	Pancreas	Pancrea
4	chr4:160559600-160560200	Enhancers	Brain Substantia Nigra	brain
5	chr4:160560600-160561200	Enhancers	HSMM	muscle
6	chr4:160560800-160562000	Enhancers	HMEC	breast
7	chr4:160561000-160561200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:160561200-160576000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:160570800-160572000	ZNF genes & repeats	Pancreas	Pancrea
10	chr4:160576000-160576600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:160576200-160578000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:160576400-160576800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:160576400-160577600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:160576600-160582200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:160578000-160584600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:160582200-160584000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:160584000-160584800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:160584200-160584800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:160584600-160585000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:160584800-160586400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:160585000-160596800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:160585400-160586000	Enhancers	Adipose Nuclei	Adipose
23	chr4:160589600-160592800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:160595200-160595800	Enhancers	Pancreas	Pancrea
25	chr4:160598200-160599400	Enhancers	Hela-S3	cervix
26	chr4:160598600-160599200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:160599400-160600000	Weak transcription	Hela-S3	cervix
28	chr4:160600000-160600200	Enhancers	Hela-S3	cervix
29	chr4:160601600-160602000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:160601600-160602000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:160602000-160605400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:160602000-160606400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:160604200-160606800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:160605200-160606800	Enhancers	HMEC	breast
35	chr4:160605400-160606800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:160605400-160606800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr4:160605400-160607600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:160606200-160607200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:160606200-160607400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:160606200-160607600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:160606200-160608400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:160606400-160606800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:160606400-160607000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr4:160606400-160607000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr4:160606400-160607000	Enhancers	Fetal Muscle Leg	muscle
46	chr4:160606400-160607000	Enhancers	Pancreas	Pancrea
47	chr4:160606400-160607000	Enhancers	Rectal Smooth Muscle	rectum
48	chr4:160606400-160607000	Enhancers	HSMMtube	muscle
49	chr4:160606400-160607400	Enhancers	Brain Substantia Nigra	brain
50	chr4:160606400-160607600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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