Variant report

Variant	esv2757938
Chromosome Location	chr4:61794845-61968156
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:61796209..61798628-chr4:61800691..61802811,2	MCF-7	breast:
2	chr4:61922988..61925561-chr4:61929773..61932182,2	MCF-7	breast:
3	chr4:61953209..61955707-chr4:61959626..61961127,2	MCF-7	breast:
4	chr4:61796209..61798628-chr4:61800691..61802811,2	MCF-7	breast:
5	chr4:61930137..61932075-chr4:61932789..61935780,2	MCF-7	breast:
6	chr4:61964348..61965964-chr4:61967965..61970719,2	K562	blood:
7	chr4:61930137..61932075-chr4:61932789..61935780,2	MCF-7	breast:
8	chr4:61964348..61965964-chr4:61967965..61970719,2	K562	blood:
9	chr4:61953209..61955707-chr4:61959626..61961127,2	MCF-7	breast:
10	chr4:61922988..61925561-chr4:61929773..61932182,2	MCF-7	breast:

No data

Extended variants
information (count: 3074 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3074 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111382855	chr4:61794946-61794947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574162240	chr4:61794947-61794948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541549938	chr4:61794979-61794980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113052085	chr4:61794989-61794990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563075225	chr4:61795040-61795041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575077304	chr4:61795069-61795070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546018033	chr4:61795074-61795075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564219512	chr4:61795111-61795112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558266223	chr4:61795116-61795117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113197545	chr4:61795123-61795124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113478802	chr4:61795152-61795153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs897367	chr4:61795180-61795181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140541907	chr4:61795189-61795190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530189454	chr4:61795190-61795191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548679206	chr4:61795222-61795223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376299161	chr4:61795223-61795224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537243991	chr4:61795229-61795230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552739198	chr4:61795247-61795248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543598349	chr4:61795279-61795280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555223581	chr4:61795283-61795284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552663867	chr4:61795338-61795339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573887327	chr4:61795365-61795366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540899538	chr4:61795367-61795368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144491834	chr4:61795372-61795373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535118513	chr4:61795385-61795386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10517518	chr4:61795416-61795417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575044267	chr4:61795419-61795420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183305813	chr4:61795431-61795432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545634984	chr4:61795432-61795433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147855305	chr4:61795438-61795439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187639058	chr4:61795463-61795464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141506312	chr4:61795475-61795476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149984782	chr4:61795477-61795478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370029316	chr4:61795478-61795479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560162116	chr4:61795522-61795523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540543050	chr4:61795529-61795530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201281684	chr4:61795547-61795548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192456390	chr4:61795639-61795640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530108187	chr4:61795645-61795646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145220764	chr4:61795646-61795647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563725274	chr4:61795665-61795666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531042034	chr4:61795678-61795679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552459748	chr4:61795687-61795688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571044548	chr4:61795702-61795703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149163134	chr4:61795737-61795738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75120409	chr4:61795745-61795746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576453473	chr4:61795768-61795769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183567496	chr4:61795809-61795810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1486501	chr4:61795818-61795819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556544360	chr4:61795840-61795841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Myelodysplastic syndrome	18508791	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:61792400-61804400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:61799600-61800400	Enhancers	Placenta	Placenta
3	chr4:61800000-61801400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:61800400-61801000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:61800400-61804400	Weak transcription	Placenta	Placenta
6	chr4:61800600-61801000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr4:61800800-61801000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:61804400-61804600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:61804400-61804600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:61804400-61804600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:61804400-61804800	Enhancers	Placenta	Placenta
12	chr4:61804600-61809200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:61808800-61809600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:61809600-61810800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:61810800-61811000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:61810800-61811600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:61811000-61811800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:61811400-61811600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:61811400-61811800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:61811600-61811800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:61821400-61821600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:61830400-61830800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:61830400-61831000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:61830600-61831000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:61843200-61843600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:61854200-61855600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:61854400-61855600	Enhancers	Placenta	Placenta
28	chr4:61854600-61856000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:61854800-61855000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:61854800-61855200	Enhancers	HMEC	breast
31	chr4:61855000-61857200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:61855200-61857200	Weak transcription	HMEC	breast
33	chr4:61855400-61855600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:61855600-61856000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:61855800-61857200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:61857200-61857800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:61857200-61858000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:61857200-61858000	Enhancers	HMEC	breast
39	chr4:61857200-61858400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:61857600-61858200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:61857800-61858200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:61858400-61869800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:61864000-61864200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:61865000-61865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:61865200-61865600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:61869000-61869200	Enhancers	NHEK	skin
47	chr4:61869000-61869400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:61869000-61871200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:61869200-61869800	Weak transcription	NHEK	skin
50	chr4:61869200-61871200	Enhancers	HMEC	breast

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