Variant report

Variant	esv2759261
Chromosome Location	chr4:73683018-73770378
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	chr4:73568023..73568623-chr4:73752188..73753038,2	MCF-7	breast:
2	chr4:73686788..73688423-chr4:73689267..73692229,2	K562	blood:
3	chr4:73431201..73433969-chr4:73767436..73769841,2	K562	blood:
4	chr4:73711557..73713794-chr4:73715010..73716796,2	K562	blood:
5	chr4:73686788..73688423-chr4:73689267..73692229,2	K562	blood:
6	chr4:73192107..73193147-chr4:73752130..73753066,3	K562	blood:
7	chr4:73711557..73713794-chr4:73715010..73716796,2	K562	blood:
8	chr4:73226037..73227750-chr4:73750692..73753662,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156140	chromatin interactions

Extended variants
information (count: 2548 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2548 , 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	rs11731713	chr4:73683018-73683019	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370658192	chr4:73683042-73683043	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150867344	chr4:73683051-73683052	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369889529	chr4:73683071-73683072	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556225722	chr4:73683072-73683073	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186228767	chr4:73683085-73683086	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190011778	chr4:73683089-73683090	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116552910	chr4:73683091-73683092	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527449360	chr4:73683096-73683097	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73825902	chr4:73683101-73683102	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139361383	chr4:73683119-73683120	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116335985	chr4:73683168-73683169	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11730890	chr4:73683171-73683172	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs35784055	chr4:73683244-73683245	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546267624	chr4:73683253-73683254	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182646920	chr4:73683275-73683276	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547741597	chr4:73683276-73683277	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566301400	chr4:73683277-73683278	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111709307	chr4:73683288-73683289	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536511179	chr4:73683301-73683302	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185073621	chr4:73683317-73683318	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189735231	chr4:73683350-73683351	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570155750	chr4:73683358-73683359	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183683479	chr4:73683383-73683384	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144469090	chr4:73683390-73683391	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114428221	chr4:73683453-73683454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542123181	chr4:73683460-73683461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146645072	chr4:73683485-73683486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571935422	chr4:73683494-73683495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545576289	chr4:73683510-73683511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57542547	chr4:73683521-73683522	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531429717	chr4:73683524-73683525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538214144	chr4:73683526-73683527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543100496	chr4:73683620-73683621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16848700	chr4:73683717-73683718	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs117681745	chr4:73683718-73683719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548139463	chr4:73683727-73683728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373108827	chr4:73683728-73683729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553228123	chr4:73683806-73683807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4694549	chr4:73683824-73683825	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538543976	chr4:73683844-73683845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552001250	chr4:73683850-73683851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189129957	chr4:73683891-73683892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531875826	chr4:73683903-73683904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570164749	chr4:73683936-73683937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192848141	chr4:73683979-73683980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183580846	chr4:73683999-73684000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534686821	chr4:73684053-73684054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4146483	chr4:73684078-73684079	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571998402	chr4:73684117-73684118	Enhancers 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
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
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
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
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73681000-73684000	Enhancers	Osteobl	bone
2	chr4:73681200-73686600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:73682000-73683200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:73682000-73683600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:73682000-73683800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:73682600-73683400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:73682600-73683800	Enhancers	Fetal Heart	heart
8	chr4:73682800-73683800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:73683000-73683800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:73683400-73683800	Enhancers	Aorta	Aorta
11	chr4:73683400-73684000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:73683400-73684200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:73683800-73684600	Weak transcription	Aorta	Aorta
14	chr4:73683800-73684800	Weak transcription	Fetal Heart	heart
15	chr4:73684600-73684800	Enhancers	Aorta	Aorta
16	chr4:73684800-73687200	Enhancers	Fetal Heart	heart
17	chr4:73684800-73690200	Weak transcription	Aorta	Aorta
18	chr4:73686400-73686800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:73686600-73687000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:73686600-73687000	Enhancers	Brain Hippocampus Middle	brain
21	chr4:73687200-73707800	Weak transcription	Fetal Heart	heart
22	chr4:73694000-73694600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr4:73706000-73706200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:73706400-73706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:73706400-73707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:73706400-73707200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:73706600-73711800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:73707000-73712000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:73707200-73711800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:73707800-73708600	Enhancers	Fetal Heart	heart
31	chr4:73708000-73708400	Enhancers	Osteobl	bone
32	chr4:73708000-73709400	Enhancers	NH-A	brain
33	chr4:73708000-73710200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:73708000-73710400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:73708400-73708800	Weak transcription	Osteobl	bone
36	chr4:73708800-73709600	Enhancers	Osteobl	bone
37	chr4:73711600-73711800	Enhancers	K562	blood
38	chr4:73711800-73712000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:73711800-73712200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:73711800-73712600	Flanking Active TSS	K562	blood
41	chr4:73711800-73712800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:73711800-73712800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:73711800-73712800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:73711800-73712800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:73712000-73712200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:73712000-73712400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:73712000-73712600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:73712000-73712800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr4:73712000-73712800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr4:73712000-73712800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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