Variant report

Variant	nsv1025205
Chromosome Location	chr4:128182107-128336881
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:15)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:128198706..128201630-chr4:128702209..128703925,2	K562	blood:
2	chr4:127699281..127701495-chr4:128289836..128291541,2	K562	blood:
3	chr4:128279364..128281190-chr4:128283646..128285272,2	K562	blood:
4	chr4:127548273..127549233-chr4:128321587..128322353,2	MCF-7	breast:
5	chr4:128261196..128264085-chr4:128269365..128271487,2	K562	blood:
6	chr4:128324432..128326374-chr4:128337025..128339790,2	K562	blood:
7	chr4:128327493..128329213-chr4:128330030..128332281,2	K562	blood:
8	chr4:128261196..128264085-chr4:128269365..128271487,2	K562	blood:
9	chr4:128325282..128327568-chr4:128327664..128329165,2	MCF-7	breast:
10	chr4:128049162..128050116-chr4:128321706..128322303,2	MCF-7	breast:
11	chr4:128327493..128329213-chr4:128330030..128332281,2	K562	blood:
12	chr4:128333962..128336677-chr4:128338283..128341112,3	K562	blood:
13	chr4:128279364..128281190-chr4:128283646..128285272,2	K562	blood:
14	chr4:127612492..127613409-chr4:128321583..128322156,2	MCF-7	breast:
15	chr4:128325282..128327568-chr4:128327664..128329165,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MFSD8-10	chr4:128235709-128235871	l_2727_chr4:128235035-128237053_lung
2	lnc-MFSD8-3	chr4:128336231-128336317	ENSG00000248491
3	lnc-MFSD8-3	chr4:128322881-128322915	ENSG00000248491
4	lnc-MFSD8-10	chr4:128235036-128235081	l_2727_chr4:128235035-128237053_lung
5	lnc-MFSD8-9	chr4:128247240-128247379	l_2728_chr4:128237735-128492960_lung
6	lnc-MFSD8-3	chr4:128322881-128322915	ENSG00000248491
7	lnc-MFSD8-9	chr4:128237736-128237864	l_2728_chr4:128237735-128492960_lung
8	lnc-MFSD8-3	chr4:128332462-128332589	ENSG00000248491
9	lnc-MFSD8-10	chr4:128236937-128237053	l_2727_chr4:128235035-128237053_lung

No data

Variant related genes	Relation type
ENSG00000164070	chromatin interactions

Extended variants
information (count: 1920 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1920 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2120088	chr4:128182107-128182108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9998370	chr4:128182201-128182202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs146740140	chr4:128182209-128182210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527427198	chr4:128182214-128182215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563835329	chr4:128182215-128182216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185311479	chr4:128182233-128182234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530933102	chr4:128182259-128182260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369046593	chr4:128182286-128182287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543077215	chr4:128182304-128182305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560956002	chr4:128182378-128182379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528422662	chr4:128182382-128182383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10021245	chr4:128182418-128182419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577890123	chr4:128182430-128182431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62335178	chr4:128182441-128182442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376584097	chr4:128182513-128182514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114982398	chr4:128182540-128182541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111767496	chr4:128182587-128182588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551265486	chr4:128182610-128182611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189998391	chr4:128182648-128182649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536760332	chr4:128182654-128182655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555459428	chr4:128182659-128182660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs36021915	chr4:128182669-128182670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534595456	chr4:128182718-128182719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182519874	chr4:128182730-128182731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57849919	chr4:128182741-128182742	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545658819	chr4:128182758-128182759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557290483	chr4:128182768-128182769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377461695	chr4:128182786-128182787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550119852	chr4:128182855-128182856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569917235	chr4:128182865-128182866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568767044	chr4:128182866-128182867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188266538	chr4:128182910-128182911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143528039	chr4:128182930-128182931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17012296	chr4:128182939-128182940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs559626744	chr4:128183038-128183039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192844047	chr4:128183043-128183044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150961275	chr4:128183062-128183063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140761330	chr4:128183066-128183067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78086557	chr4:128183119-128183120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549144154	chr4:128183155-128183156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558180065	chr4:128183166-128183167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114799389	chr4:128183167-128183168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567707874	chr4:128198748-128198749	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534838595	chr4:128198756-128198757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553041359	chr4:128198766-128198767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112629643	chr4:128198859-128198860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140517132	chr4:128198868-128198869	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548913866	chr4:128198886-128198887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186466782	chr4:128198939-128198940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376464523	chr4:128198955-128198956	Inactive region	Chromatin interactive region	1 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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128182000-128183200	Enhancers	HMEC	breast
2	chr4:128182400-128182800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:128182600-128183000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:128182600-128183200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:128204800-128205400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:128204800-128206000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:128205400-128205800	Enhancers	Fetal Brain Female	brain
8	chr4:128214800-128215200	Enhancers	Fetal Lung	lung
9	chr4:128215000-128215600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:128215200-128215400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:128215200-128215600	Enhancers	Spleen	Spleen
12	chr4:128215200-128215800	Enhancers	Adipose Nuclei	Adipose
13	chr4:128215400-128216600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:128215600-128222600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:128216600-128216800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
16	chr4:128216600-128217000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:128217600-128218000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:128223400-128225200	Weak transcription	NHDF-Ad	bronchial
19	chr4:128225000-128226800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:128225200-128225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:128225200-128226400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:128225200-128226600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:128225200-128226600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:128225200-128226600	Enhancers	NHDF-Ad	bronchial
25	chr4:128225600-128226000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:128225600-128226000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:128226000-128226600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:128226000-128226600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:128226000-128229400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:128226600-128230000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:128226600-128230400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:128226600-128230400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:128226600-128230400	Weak transcription	NHDF-Ad	bronchial
34	chr4:128226600-128231000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:128226800-128228800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:128227600-128227800	Enhancers	Gastric	stomach
37	chr4:128228800-128231800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:128229200-128229400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:128229400-128231600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:128229600-128230600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:128230000-128231800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:128230400-128231600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:128230400-128231600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr4:128230400-128231600	Enhancers	NHDF-Ad	bronchial
45	chr4:128230600-128231200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr4:128230600-128231200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:128230600-128231400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:128230800-128231200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:128231000-128231600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:128244600-128246000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links