Variant report

Variant	esv1802546
Chromosome Location	chr4:120558608-120675026
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:13)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120548112..120549815-chr4:120627740..120630538,2	MCF-7	breast:
2	chr4:120596527..120599476-chr4:120602386..120604246,2	K562	blood:
3	chr4:120596527..120599476-chr4:120602386..120604246,2	K562	blood:
4	chr4:120568266..120570200-chr4:120973262..120975604,2	K562	blood:
5	chr4:120648083..120649725-chr4:120663986..120665688,2	MCF-7	breast:
6	chr4:120620209..120622395-chr4:120625865..120628325,2	K562	blood:
7	chr4:120628103..120631011-chr4:120987258..120989311,2	MCF-7	breast:
8	chr4:120549837..120550682-chr4:120652400..120652958,2	MCF-7	breast:
9	chr4:120623553..120626100-chr4:120629562..120632070,2	MCF-7	breast:
10	chr4:120623553..120626100-chr4:120629562..120632070,2	MCF-7	breast:
11	chr4:120583446..120585876-chr4:120986631..120988328,2	K562	blood:
12	chr4:120648083..120649725-chr4:120663986..120665688,2	MCF-7	breast:
13	chr4:120620209..120622395-chr4:120625865..120628325,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-10	chr4:120652954-120653067	ucscGeneNc_uc003idi_2
2	lnc-AC110373.1-4	chr4:120597484-120597814	XLOC_003669
3	lnc-PDE5A-1	chr4:120578273-120578304	XLOC_004057
4	lnc-AC110373.1-10	chr4:120669343-120669392	ucscGeneNc_uc003idi_2
5	lnc-PDE5A-1	chr4:120559333-120559618	XLOC_004057
6	lnc-AC110373.1-4	chr4:120610321-120610372	XLOC_003669
7	lnc-AC110373.1-10	chr4:120653416-120653523	ucscGeneNc_uc003idi_2

No data

Variant related genes	Relation type
ENSG00000250938	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000138735	chromatin interactions

Extended variants
information (count: 3877 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3877 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10009566	chr4:120558608-120558609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186593776	chr4:120558739-120558740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571551559	chr4:120558941-120558942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562425360	chr4:120558981-120558982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533859611	chr4:120559006-120559007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554004878	chr4:120559070-120559071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573559449	chr4:120559132-120559133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10012252	chr4:120559139-120559140	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs555879245	chr4:120559144-120559145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377417602	chr4:120559187-120559188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545222190	chr4:120559188-120559189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370583567	chr4:120559208-120559209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565119802	chr4:120559236-120559237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572575235	chr4:120559241-120559242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113810403	chr4:120559247-120559248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6534149	chr4:120559292-120559293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs112408867	chr4:120559298-120559299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371329729	chr4:120559326-120559327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375055359	chr4:120559360-120559361	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs556921071	chr4:120559390-120559391	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs550197592	chr4:120559410-120559411	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs563801728	chr4:120559440-120559441	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs374300529	chr4:120559465-120559466	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs112637950	chr4:120559529-120559530	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs532943627	chr4:120559558-120559559	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs552670408	chr4:120559565-120559566	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs529134073	chr4:120559622-120559623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191004734	chr4:120559681-120559682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552933912	chr4:120559701-120559702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533940497	chr4:120559800-120559801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76501083	chr4:120559805-120559806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576000084	chr4:120559856-120559857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2389880	chr4:120559870-120559871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs535889121	chr4:120559881-120559882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555717327	chr4:120559901-120559902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575763619	chr4:120559951-120559952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536914472	chr4:120559983-120559984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538359568	chr4:120560141-120560142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558578922	chr4:120560142-120560143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182890946	chr4:120560157-120560158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139461587	chr4:120560227-120560228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551098106	chr4:120560255-120560256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541605435	chr4:120560271-120560272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561475031	chr4:120560304-120560305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141692271	chr4:120560305-120560306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73842681	chr4:120560314-120560315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371564675	chr4:120560331-120560332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143702775	chr4:120560354-120560355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533640147	chr4:120560386-120560387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559757175	chr4:120560470-120560471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Myelodysplastic syndrome	18508791	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:939 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120554000-120559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:120554000-120559400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:120554000-120559400	Weak transcription	NHLF	lung
4	chr4:120554200-120559400	Weak transcription	Osteobl	bone
5	chr4:120558200-120559000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:120558600-120560000	Enhancers	Fetal Stomach	stomach
7	chr4:120559000-120560000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:120559200-120559600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:120559400-120559800	Enhancers	Osteobl	bone
10	chr4:120559400-120560000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:120559400-120560000	Enhancers	NHDF-Ad	bronchial
12	chr4:120559400-120560000	Enhancers	NHLF	lung
13	chr4:120559400-120561000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:120559600-120560000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:120559800-120567800	Weak transcription	Osteobl	bone
16	chr4:120560000-120564400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:120560000-120567800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:120564400-120565200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:120564600-120565000	Enhancers	Fetal Intestine Large	intestine
20	chr4:120564800-120565200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:120565200-120565400	Enhancers	Fetal Intestine Large	intestine
22	chr4:120565200-120567600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:120566800-120568400	Enhancers	Fetal Stomach	stomach
24	chr4:120567000-120569200	Enhancers	Fetal Muscle Leg	muscle
25	chr4:120567200-120567600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:120567200-120567800	Enhancers	Fetal Lung	lung
27	chr4:120567200-120568000	Enhancers	Fetal Brain Male	brain
28	chr4:120567200-120568400	Enhancers	Psoas Muscle	Psoas
29	chr4:120567200-120568800	Enhancers	Colon Smooth Muscle	Colon
30	chr4:120567200-120569000	Enhancers	Rectal Smooth Muscle	rectum
31	chr4:120567200-120569200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:120567400-120567600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:120567400-120568000	Enhancers	Fetal Brain Female	brain
34	chr4:120567600-120567800	Flanking Active TSS	HSMMtube	muscle
35	chr4:120567600-120568000	Enhancers	Pancreas	Pancrea
36	chr4:120567600-120568000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr4:120567600-120568200	Enhancers	Brain Germinal Matrix	brain
38	chr4:120567600-120568200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr4:120567600-120568200	Enhancers	NH-A	brain
40	chr4:120567600-120568400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:120567600-120569000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:120567600-120569800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:120567800-120568200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr4:120567800-120568200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:120567800-120568200	Enhancers	Right Atrium	heart
46	chr4:120567800-120568400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:120567800-120568800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:120567800-120568800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:120567800-120568800	Weak transcription	Fetal Lung	lung
50	chr4:120567800-120568800	Enhancers	HSMMtube	muscle

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