Variant report

Variant	esv3446791
Chromosome Location	chr4:120621398-120649319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120628103..120631011-chr4:120987258..120989311,2	MCF-7	breast:
2	chr4:120620209..120622395-chr4:120625865..120628325,2	K562	blood:
3	chr4:120648083..120649725-chr4:120663986..120665688,2	MCF-7	breast:
4	chr4:120623553..120626100-chr4:120629562..120632070,2	MCF-7	breast:
5	chr4:120623553..120626100-chr4:120629562..120632070,2	MCF-7	breast:
6	chr4:120620209..120622395-chr4:120625865..120628325,2	K562	blood:
7	chr4:120548112..120549815-chr4:120627740..120630538,2	MCF-7	breast:

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

Extended variants
information (count: 851 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7682717	chr4:120621417-120621418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2248806	chr4:120621423-120621424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs559684006	chr4:120621447-120621448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116216311	chr4:120621464-120621465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145461510	chr4:120621497-120621498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59047387	chr4:120621507-120621508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56085109	chr4:120621525-120621526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114616645	chr4:120621530-120621531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148815811	chr4:120621548-120621549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143504750	chr4:120621561-120621562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572588866	chr4:120627742-120627743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145292897	chr4:120627758-120627759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562140656	chr4:120627778-120627779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147143106	chr4:120627827-120627828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140250103	chr4:120627833-120627834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564757224	chr4:120627857-120627858	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184045696	chr4:120627944-120627945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144330097	chr4:120627965-120627966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546983234	chr4:120627975-120627976	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112096341	chr4:120627983-120627984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567003560	chr4:120628048-120628049	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535929028	chr4:120628102-120628103	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548410080	chr4:120628107-120628108	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs72680932	chr4:120628124-120628125	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116552034	chr4:120628137-120628138	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs577038907	chr4:120628148-120628149	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs187875137	chr4:120628183-120628184	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs552531832	chr4:120628200-120628201	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs572650434	chr4:120628345-120628346	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs550879105	chr4:120628379-120628380	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs374405605	chr4:120628411-120628412	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs541515051	chr4:120628439-120628440	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs561781850	chr4:120628446-120628447	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs4429720	chr4:120628458-120628459	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs544765503	chr4:120628488-120628489	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs370716487	chr4:120628542-120628543	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs533649982	chr4:120628557-120628558	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs191577284	chr4:120628586-120628587	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs147788925	chr4:120628587-120628588	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs113555549	chr4:120628599-120628600	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs72680933	chr4:120628607-120628608	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs2714961	chr4:120628627-120628628	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs370676862	chr4:120628637-120628638	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs566230845	chr4:120628654-120628655	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs182114705	chr4:120628744-120628745	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs140180643	chr4:120628748-120628749	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs539346278	chr4:120628861-120628862	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs202215076	chr4:120628919-120628920	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs552591148	chr4:120628924-120628925	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs57569967	chr4:120628926-120628927	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120621400-120621600	Enhancers	Pancreas	Pancrea
2	chr4:120628000-120628200	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr4:120628000-120628800	Enhancers	Fetal Intestine Large	intestine
4	chr4:120628000-120629000	Enhancers	Duodenum Mucosa	Duodenum
5	chr4:120628000-120629200	Enhancers	Liver	Liver
6	chr4:120628000-120629400	Enhancers	HepG2	liver
7	chr4:120628000-120631200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr4:120628200-120629200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:120629000-120629400	Enhancers	Colonic Mucosa	Colon
10	chr4:120629000-120629400	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr4:120629000-120629400	Enhancers	Small Intestine	intestine
12	chr4:120629200-120630400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:120629400-120631200	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:120630000-120630400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:120630400-120636800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:120631200-120636600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:120635400-120635600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr4:120635600-120636800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:120636600-120637000	Active TSS	Duodenum Mucosa	Duodenum
20	chr4:120636600-120638000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr4:120636800-120637200	Enhancers	Lung	lung
22	chr4:120636800-120637200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr4:120636800-120637800	Enhancers	Colonic Mucosa	Colon
24	chr4:120636800-120637800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:120637000-120637200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr4:120637200-120637400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:120637200-120637400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr4:120637200-120637400	Enhancers	Stomach Mucosa	stomach
29	chr4:120637200-120638000	Enhancers	Duodenum Mucosa	Duodenum
30	chr4:120637400-120637800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:120637400-120638000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr4:120637800-120638000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:120638000-120638200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:120638200-120639000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:120639000-120639200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:120639200-120639800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:120639800-120640000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:120640000-120641800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:120641200-120641400	Weak transcription	Fetal Heart	heart
40	chr4:120642600-120642800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:120642800-120643400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:120642800-120650200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:120643000-120643200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr4:120643000-120643400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:120643000-120644200	Enhancers	Liver	Liver
46	chr4:120643200-120643800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:120643400-120644200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:120643400-120646200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:120643800-120644400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr4:120644000-120644200	Enhancers	Pancreas	Pancrea

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