Variant report

Variant	esv995458
Chromosome Location	chr4:77093764-77102178
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77101037..77101657-chr4:77425834..77426647,3	K562	blood:
2	chr4:77100837..77101592-chr4:77342165..77343074,2	MCF-7	breast:
3	chr4:77099739..77102113-chr4:77107352..77109592,2	K562	blood:
4	chr4:77095699..77097520-chr4:77262077..77264592,2	MCF-7	breast:
5	chr4:77100696..77102107-chr4:77298493..77299821,12	K562	blood:
6	chr4:77101177..77103136-chr4:77108889..77111010,2	MCF-7	breast:
7	chr4:77100761..77101387-chr4:77166867..77167817,2	MCF-7	breast:
8	chr4:77058522..77060950-chr4:77099295..77101938,2	MCF-7	breast:
9	chr4:77100858..77102558-chr4:77153141..77154759,2	MCF-7	breast:
10	chr4:77084049..77086922-chr4:77101661..77103722,2	K562	blood:
11	chr4:77101090..77101637-chr4:77227983..77228836,2	MCF-7	breast:
12	chr4:77100949..77101635-chr4:77228106..77229106,2	MCF-7	breast:
13	chr4:77101090..77101653-chr4:77166939..77167466,2	MCF-7	breast:
14	chr4:77067933..77070552-chr4:77097939..77099477,2	K562	blood:
15	chr4:77100834..77101731-chr4:77299299..77299831,3	MCF-7	breast:
16	chr4:77100730..77101561-chr4:77288471..77289108,2	K562	blood:
17	chr4:77067502..77069433-chr4:77097939..77100714,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163749	chromatin interactions
ENSG00000138750	chromatin interactions

Extended variants
information (count: 341 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61563612	chr4:77093833-77093834	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200003411	chr4:77093834-77093835	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201109597	chr4:77093844-77093845	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202174616	chr4:77093845-77093846	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199920297	chr4:77093846-77093847	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143511620	chr4:77093905-77093906	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540561847	chr4:77093921-77093922	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115598706	chr4:77093932-77093933	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555337718	chr4:77093952-77093953	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565778558	chr4:77093996-77093997	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534778850	chr4:77094002-77094003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13111705	chr4:77094058-77094059	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186271628	chr4:77094069-77094070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373250137	chr4:77094087-77094088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190739475	chr4:77094110-77094111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574280176	chr4:77094126-77094127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180707322	chr4:77094128-77094129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561650625	chr4:77094135-77094136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557425424	chr4:77094155-77094156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577580139	chr4:77094178-77094179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527309883	chr4:77094179-77094180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199614599	chr4:77094207-77094208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541096379	chr4:77094212-77094213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187184988	chr4:77094228-77094229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190913668	chr4:77094244-77094245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563030848	chr4:77094252-77094253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183077677	chr4:77094253-77094254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373675715	chr4:77094266-77094267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147174894	chr4:77094276-77094277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28462172	chr4:77094367-77094368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569795336	chr4:77094373-77094374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376349202	chr4:77094406-77094407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78039612	chr4:77094481-77094482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200478988	chr4:77094482-77094483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78604530	chr4:77094485-77094486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534436623	chr4:77094493-77094494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530231233	chr4:77094494-77094495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1550556	chr4:77094541-77094542	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565715464	chr4:77094552-77094553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534719467	chr4:77094591-77094592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557798476	chr4:77094609-77094610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571725705	chr4:77094695-77094696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537204853	chr4:77094705-77094706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60983927	chr4:77094733-77094734	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574185504	chr4:77094755-77094756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115591143	chr4:77094780-77094781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553721713	chr4:77094781-77094782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373643420	chr4:77094795-77094796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2869851	chr4:77094831-77094832	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs541037052	chr4:77094839-77094840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77070600-77113600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:77070800-77093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:77071200-77113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:77078200-77100600	Weak transcription	K562	blood
5	chr4:77078600-77100800	Strong transcription	Placenta	Placenta
6	chr4:77079200-77098000	Strong transcription	Fetal Muscle Leg	muscle
7	chr4:77079200-77100800	Strong transcription	Liver	Liver
8	chr4:77079400-77097200	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr4:77079400-77098800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:77079400-77100000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:77079400-77100800	Strong transcription	Fetal Intestine Large	intestine
12	chr4:77079400-77101400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr4:77079400-77108200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:77079600-77098800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:77079600-77099000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr4:77079600-77101200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr4:77079600-77101400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:77079800-77098000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:77079800-77101000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr4:77080400-77098400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:77080600-77113600	Weak transcription	Thymus	Thymus
22	chr4:77080800-77099000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:77080800-77101200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:77080800-77101200	Strong transcription	NHDF-Ad	bronchial
25	chr4:77081000-77097000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:77081000-77097400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:77081000-77097400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:77081400-77099200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr4:77081600-77097200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:77081600-77097400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:77082200-77096800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:77082200-77097400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:77082200-77098000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:77082400-77098000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:77082400-77101400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:77082600-77100800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:77082800-77098000	Strong transcription	Lung	lung
38	chr4:77083200-77112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:77083400-77093800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:77085200-77094200	Weak transcription	Small Intestine	intestine
41	chr4:77085200-77096400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:77087000-77097800	Strong transcription	Brain Anterior Caudate	brain
43	chr4:77087000-77101400	Strong transcription	Fetal Lung	lung
44	chr4:77087400-77098800	Strong transcription	HSMM	muscle
45	chr4:77087600-77097400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr4:77087800-77097800	Strong transcription	Dnd41	blood
47	chr4:77088200-77098000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:77088200-77101400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:77089200-77097000	Strong transcription	NHLF	lung
50	chr4:77089400-77095600	Strong transcription	NHEK	skin

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