Variant report

Variant	nsv879705
Chromosome Location	chr4:107179126-107212966
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	chr4:107186651..107188040-chr4:107422951..107423909,9	K562	blood:
2	chr4:107186600..107189007-chr4:107189607..107191897,2	K562	blood:
3	chr4:107186942..107188312-chr4:107422810..107424188,6	MCF-7	breast:
4	chr4:107185773..107187284-chr4:107235963..107237575,2	MCF-7	breast:
5	chr4:107170979..107173933-chr4:107183092..107185530,2	K562	blood:
6	chr4:107180191..107183024-chr4:107184999..107187172,2	MCF-7	breast:
7	chr4:107189189..107191825-chr4:107236392..107239313,3	MCF-7	breast:
8	chr4:107183968..107186758-chr4:107242517..107245278,3	K562	blood:
9	chr4:107187038..107188038-chr4:107249952..107250600,3	MCF-7	breast:
10	chr4:107187507..107189111-chr4:107189607..107191483,2	K562	blood:
11	chr4:107194465..107196300-chr4:107236860..107239279,2	MCF-7	breast:
12	chr4:107167830..107170345-chr4:107178069..107180274,2	K562	blood:
13	chr4:107180191..107183024-chr4:107184999..107187172,2	MCF-7	breast:
14	chr4:107186600..107189007-chr4:107189607..107191897,2	K562	blood:
15	chr4:107187206..107187713-chr4:107739937..107740444,2	MCF-7	breast:
16	chr4:107184193..107185780-chr4:107235786..107237913,2	K562	blood:
17	chr4:107187507..107189111-chr4:107189607..107191483,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145348	chromatin interactions
ENSG00000164022	chromatin interactions

Extended variants
information (count: 1084 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1084 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs727618	chr4:107179126-107179127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369965056	chr4:107179127-107179128	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190713787	chr4:107179152-107179153	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569465669	chr4:107179311-107179312	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537928848	chr4:107179347-107179348	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548633604	chr4:107179404-107179405	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556065886	chr4:107179422-107179423	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183534490	chr4:107179444-107179445	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533893816	chr4:107179503-107179504	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553755566	chr4:107179562-107179563	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572797966	chr4:107179708-107179709	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs367820352	chr4:107179746-107179747	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs17274017	chr4:107179782-107179783	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs558457261	chr4:107179889-107179890	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575424421	chr4:107179970-107179971	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187872849	chr4:107180009-107180010	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192348140	chr4:107180030-107180031	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555302716	chr4:107180074-107180075	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183077466	chr4:107180097-107180098	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188249075	chr4:107180145-107180146	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541677401	chr4:107180146-107180147	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75207700	chr4:107180188-107180189	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532835674	chr4:107180191-107180192	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149223052	chr4:107180217-107180218	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375442607	chr4:107180313-107180314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13133348	chr4:107180315-107180316	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143432613	chr4:107180316-107180317	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548508875	chr4:107180323-107180324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568498480	chr4:107180337-107180338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75314903	chr4:107180404-107180405	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547378903	chr4:107180496-107180497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564438628	chr4:107180565-107180566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570547043	chr4:107180579-107180580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538524502	chr4:107180592-107180593	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192960811	chr4:107180599-107180600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528817103	chr4:107180610-107180611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56009469	chr4:107180715-107180716	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs568601637	chr4:107180725-107180726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537997179	chr4:107180727-107180728	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554514467	chr4:107180749-107180750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574575043	chr4:107180779-107180780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540361402	chr4:107180789-107180790	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116615611	chr4:107180807-107180808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56231393	chr4:107180864-107180865	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs376043145	chr4:107180876-107180877	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147982874	chr4:107180881-107180882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141661149	chr4:107180921-107180922	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145981526	chr4:107181089-107181090	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532647055	chr4:107181207-107181208	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548762437	chr4:107181234-107181235	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107114600-107236000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:107116800-107193800	Weak transcription	Small Intestine	intestine
3	chr4:107130000-107181200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:107141600-107214800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:107142400-107195800	Weak transcription	Psoas Muscle	Psoas
6	chr4:107144800-107179600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:107148200-107179600	Weak transcription	NH-A	brain
8	chr4:107151600-107179200	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:107153800-107184200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:107155200-107185400	Weak transcription	Stomach Mucosa	stomach
11	chr4:107155600-107236000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:107156000-107180600	Weak transcription	Brain Angular Gyrus	brain
13	chr4:107157200-107203000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:107166400-107185200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:107166800-107185400	Weak transcription	K562	blood
16	chr4:107167200-107191800	Weak transcription	HUVEC	blood vessel
17	chr4:107169400-107185200	Weak transcription	NHEK	skin
18	chr4:107170800-107179200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:107170800-107179200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:107170800-107179400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:107170800-107182600	Weak transcription	Fetal Brain Male	brain
22	chr4:107170800-107208200	Weak transcription	Fetal Kidney	kidney
23	chr4:107171800-107179600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:107172000-107185400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:107172200-107185400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:107172200-107194800	Weak transcription	Fetal Lung	lung
27	chr4:107174800-107181600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:107174800-107185000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:107175400-107180400	Weak transcription	Primary B cells from cord blood	blood
30	chr4:107176400-107180600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:107176400-107180600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr4:107176800-107179200	Weak transcription	Brain Substantia Nigra	brain
33	chr4:107177000-107181000	Weak transcription	HSMM	muscle
34	chr4:107177200-107179200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:107177200-107180000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:107177400-107179200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:107177400-107179200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:107177400-107186000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:107177400-107189800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:107177400-107207600	Weak transcription	Fetal Brain Female	brain
41	chr4:107177600-107179400	Weak transcription	HSMMtube	muscle
42	chr4:107177600-107179600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:107177600-107183400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:107177600-107202600	Weak transcription	Primary T cells from cord blood	blood
45	chr4:107177600-107205600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:107177800-107179400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:107177800-107179400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:107177800-107179400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:107177800-107179400	Weak transcription	NHLF	lung
50	chr4:107177800-107180000	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links