Variant report

Variant	nsv830101
Chromosome Location	chr4:143518810-143684392
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:116)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:116 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:143610637..143613671-chr4:143616411..143618882,3	MCF-7	breast:
2	chr11:8506706..8507606-chr4:143536248..143536811,2	MCF-7	breast:
3	chr4:143552083..143553625-chr4:143567015..143569107,2	MCF-7	breast:
4	chr4:143521789..143524900-chr4:143525701..143529470,4	MCF-7	breast:
5	chr4:143610637..143613671-chr4:143616411..143618882,3	MCF-7	breast:
6	chr4:143388165..143401257-chr4:143512284..143528837,40	MCF-7	breast:
7	chr4:143391122..143393717-chr4:143678959..143680972,2	MCF-7	breast:
8	chr4:143488759..143491260-chr4:143536558..143538874,2	MCF-7	breast:
9	chr4:143535588..143538325-chr4:143625041..143627552,2	MCF-7	breast:
10	chr4:143392552..143395395-chr4:143603032..143606999,3	MCF-7	breast:
11	chr4:143534091..143535694-chr4:143557238..143559217,2	MCF-7	breast:
12	chr4:143393259..143398108-chr4:143615372..143620802,7	MCF-7	breast:
13	chr4:143400200..143401764-chr4:143533629..143535146,2	MCF-7	breast:
14	chr4:143469197..143474225-chr4:143534708..143538333,6	MCF-7	breast:
15	chr4:143637297..143639595-chr4:143640905..143643324,3	MCF-7	breast:
16	chr4:143534091..143535694-chr4:143557238..143559217,2	MCF-7	breast:
17	chr4:143393327..143398147-chr4:143615863..143619957,7	MCF-7	breast:
18	chr4:143274014..143275963-chr4:143618160..143619947,2	MCF-7	breast:
19	chr4:143517546..143521080-chr4:143535706..143539870,4	MCF-7	breast:
20	chr4:143521828..143522757-chr4:143536158..143537238,4	MCF-7	breast:
21	chr4:143388945..143399475-chr4:143525396..143540220,51	MCF-7	breast:
22	chr4:143408585..143411765-chr4:143534873..143537251,4	MCF-7	breast:
23	chr4:143577881..143580712-chr4:143582795..143584320,2	MCF-7	breast:
24	chr4:143392268..143395093-chr4:143579932..143583769,3	MCF-7	breast:
25	chr4:143535928..143538576-chr4:143767240..143768815,2	MCF-7	breast:
26	chr4:143536310..143537064-chr4:143957404..143958197,5	MCF-7	breast:
27	chr4:143634044..143636846-chr4:143637396..143641073,3	MCF-7	breast:
28	chr4:143493193..143494838-chr4:143533347..143535926,2	MCF-7	breast:
29	chr4:143393131..143399799-chr4:143636317..143645681,15	MCF-7	breast:
30	chr4:143536204..143537085-chr4:143957648..143958196,3	MCF-7	breast:
31	chr4:143682400..143684805-chr4:143686793..143689462,3	K562	blood:
32	chr4:143535588..143538325-chr4:143625041..143627552,2	MCF-7	breast:
33	chr4:143520357..143522520-chr4:143535203..143538604,3	MCF-7	breast:
34	chr4:143420095..143422300-chr4:143536470..143540708,3	MCF-7	breast:
35	chr4:143517914..143520098-chr4:143525876..143528126,2	MCF-7	breast:
36	chr4:143457460..143459443-chr4:143533756..143535732,2	MCF-7	breast:
37	chr4:143395976..143397476-chr4:143613237..143615113,2	MCF-7	breast:
38	chr4:143393465..143396592-chr4:143631239..143633455,3	MCF-7	breast:
39	chr4:143392644..143398601-chr4:143638137..143645320,14	MCF-7	breast:
40	chr4:143536781..143539215-chr4:143551772..143553795,2	MCF-7	breast:
41	chr4:143389497..143391708-chr4:143562312..143564473,2	MCF-7	breast:
42	chr4:143646473..143648911-chr4:143650261..143652367,2	MCF-7	breast:
43	chr4:143520357..143522520-chr4:143535203..143538604,3	MCF-7	breast:
44	chr4:143518531..143520300-chr4:143521688..143524164,2	MCF-7	breast:
45	chr4:143394446..143396897-chr4:143551574..143553938,2	MCF-7	breast:
46	chr4:143535273..143539133-chr4:143641663..143644812,3	MCF-7	breast:
47	chr4:143401960..143404960-chr4:143637401..143640738,3	MCF-7	breast:
48	chr4:143517583..143519363-chr4:143531947..143533468,2	MCF-7	breast:
49	chr4:143603202..143605409-chr4:143612309..143615155,2	MCF-7	breast:
50	chr4:143520541..143523136-chr4:143767058..143768735,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP38-2	chr4:143581936-143582103	ENSG00000249806
2	lnc-FREM3-8	chr4:143575665-143575833	NONHSAT098539
3	lnc-FREM3-8	chr4:143581930-143582049	NONHSAT098539
4	lnc-FREM3-8	chr4:143646992-143647054	NONHSAT098539

No data

Variant related genes	Relation type
ENSG00000204054	chromatin interactions
ENSG00000109452	chromatin interactions

Extended variants
information (count: 6143 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:6143 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571561114	chr4:143519019-143519020	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs368671836	chr4:143519063-143519064	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538935322	chr4:143519094-143519095	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553760229	chr4:143519125-143519126	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571958755	chr4:143519163-143519164	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76215717	chr4:143519253-143519254	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554345195	chr4:143519292-143519293	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538653820	chr4:143519293-143519294	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576121057	chr4:143519305-143519306	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143761138	chr4:143519314-143519315	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562748241	chr4:143519334-143519335	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577876973	chr4:143519450-143519451	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192276790	chr4:143519455-143519456	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560513741	chr4:143519481-143519482	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563951671	chr4:143519495-143519496	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556965532	chr4:143519515-143519516	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527667088	chr4:143519531-143519532	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549394970	chr4:143519591-143519592	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370395525	chr4:143519611-143519612	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74821385	chr4:143519626-143519627	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113603527	chr4:143519660-143519661	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549953427	chr4:143519665-143519666	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571473415	chr4:143519676-143519677	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538899293	chr4:143519692-143519693	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573707848	chr4:143519697-143519698	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528144915	chr4:143519715-143519716	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7675305	chr4:143519738-143519739	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs565992720	chr4:143519859-143519860	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535854180	chr4:143519861-143519862	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554589180	chr4:143519892-143519893	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75030668	chr4:143519935-143519936	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115562751	chr4:143519956-143519957	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146149320	chr4:143519981-143519982	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373488357	chr4:143519984-143519985	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138691255	chr4:143520076-143520077	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184664227	chr4:143520088-143520089	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376900134	chr4:143520090-143520091	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560609523	chr4:143520148-143520149	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187673924	chr4:143520178-143520179	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542654766	chr4:143520180-143520181	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192645390	chr4:143520220-143520221	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531796921	chr4:143520221-143520222	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142675976	chr4:143520222-143520223	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565041925	chr4:143520223-143520224	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138584987	chr4:143520231-143520232	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1559710	chr4:143520240-143520241	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534827401	chr4:143520267-143520268	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188831200	chr4:143520280-143520281	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376105594	chr4:143520313-143520314	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144498604	chr4:143520366-143520367	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:925 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143489800-143519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143490800-143519200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:143507400-143520200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:143507600-143519200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:143508200-143520000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:143511800-143521200	Weak transcription	Primary T cells from cord blood	blood
7	chr4:143514600-143519800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:143514800-143519800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:143515000-143519400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:143516000-143523800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:143516400-143520400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:143517000-143530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:143517200-143519400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:143517400-143539400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:143518000-143519200	Weak transcription	Left Ventricle	heart
16	chr4:143518000-143519200	Weak transcription	Pancreas	Pancrea
17	chr4:143518200-143519400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:143518200-143520000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:143518400-143519200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr4:143518400-143524200	Weak transcription	Aorta	Aorta
21	chr4:143518800-143520000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:143519200-143519800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:143519200-143520000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:143519200-143520200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:143519200-143520200	Enhancers	Left Ventricle	heart
26	chr4:143519200-143520400	Enhancers	Pancreas	Pancrea
27	chr4:143519200-143520600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:143519400-143519600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:143519400-143520600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:143519400-143520600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:143519400-143520800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
32	chr4:143519600-143521000	Weak transcription	Liver	Liver
33	chr4:143519600-143525000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:143519800-143520000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:143519800-143520200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:143519800-143520600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:143519800-143520800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:143519800-143522800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:143520000-143520200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr4:143520000-143520400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:143520000-143520600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:143520000-143520800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr4:143520000-143536000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:143520200-143520600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:143520400-143520800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
46	chr4:143520400-143521200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:143520400-143522400	Enhancers	Dnd41	blood
48	chr4:143520600-143520800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
49	chr4:143520600-143521400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:143520600-143522600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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