Variant report

Variant	nsv980256
Chromosome Location	chr4:128732948-128738529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr4:128736306-128736431	K562	blood:	n/a	n/a
2	MAZ	chr4:128735159-128735257	GM12878	blood:	n/a	n/a
3	MYC	chr4:128735782-128735855	MCF-7	breast:	n/a	n/a
4	POLR2A	chr4:128732961-128733054	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr4:128735639-128735886	MCF-7	breast:	n/a	n/a
6	POLR2A	chr4:128736885-128737191	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:128735720-128735886	A549	lung:	n/a	n/a
8	POLR2A	chr4:128736805-128736839	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr4:128735680-128735885	MCF-7	breast:	n/a	n/a
10	POLR2A	chr4:128735722-128735884	Gliobla	brain:	n/a	n/a
11	STAT3	chr4:128733700-128733791	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:128735114..128737929-chr4:128739500..128741438,2	K562	blood:
2	chr4:128735664..128737568-chr4:128800882..128803731,2	K562	blood:
3	chr4:128714333..128715858-chr4:128734487..128736194,2	K562	blood:
4	chr4:128735443..128738310-chr4:128746786..128749882,3	K562	blood:
5	chr4:128735614..128737197-chr4:128742449..128744815,2	K562	blood:
6	chr4:128727274..128729272-chr4:128736582..128738197,2	K562	blood:
7	chr4:128732822..128735111-chr4:128886290..128887908,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC25A31-2	chr4:128734173-128734630	NONHSAT098242

No data

Variant related genes	Relation type
ENSG00000244021	TF binding region
HSPA4L	TF binding region
ENSG00000164074	chromatin interactions
ENSG00000164073	chromatin interactions
ENSG00000142731	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561062206	chr4:128732970-128732971	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs191186979	chr4:128733014-128733015	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs540825175	chr4:128733058-128733059	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs79907599	chr4:128733075-128733076	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs532886400	chr4:128733286-128733287	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs550284182	chr4:128733287-128733288	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183517392	chr4:128733291-128733292	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529730044	chr4:128733302-128733303	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548276468	chr4:128733312-128733313	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150966317	chr4:128733331-128733332	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533707026	chr4:128733347-128733348	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558755523	chr4:128733352-128733353	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570654570	chr4:128733388-128733389	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373240480	chr4:128733421-128733422	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs376146994	chr4:128733444-128733445	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553895255	chr4:128733449-128733450	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556923611	chr4:128733481-128733482	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575200874	chr4:128733512-128733513	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs62335573	chr4:128733518-128733519	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374368058	chr4:128733564-128733565	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201507893	chr4:128733573-128733574	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188207067	chr4:128733577-128733578	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs79816485	chr4:128733585-128733586	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528548639	chr4:128733604-128733605	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs17012675	chr4:128733634-128733635	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191500986	chr4:128733670-128733671	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs140810324	chr4:128733675-128733676	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs542594817	chr4:128733695-128733696	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs565502523	chr4:128733719-128733720	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs532678975	chr4:128733787-128733788	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs375930866	chr4:128733793-128733794	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs561988894	chr4:128733796-128733797	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs376898760	chr4:128733853-128733854	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185082030	chr4:128733855-128733856	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs199649458	chr4:128733873-128733874	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370347864	chr4:128733874-128733875	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs75492335	chr4:128733875-128733876	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563193703	chr4:128733913-128733914	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs529664337	chr4:128733928-128733929	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs4092443	chr4:128733946-128733947	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs189955449	chr4:128733967-128733968	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548215469	chr4:128734033-128734034	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs566561164	chr4:128734051-128734052	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376325033	chr4:128734159-128734160	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs552066969	chr4:128734203-128734204	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs570663152	chr4:128734222-128734223	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs138877801	chr4:128734255-128734256	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs201697235	chr4:128734269-128734270	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs556011912	chr4:128734271-128734272	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs568017512	chr4:128734300-128734301	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128706000-128743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:128706200-128759800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:128706400-128741600	Weak transcription	K562	blood
4	chr4:128712000-128764600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:128714400-128760400	Weak transcription	HUVEC	blood vessel
6	chr4:128717400-128744600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:128718000-128760600	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:128719400-128733200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:128719400-128744600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:128719400-128755600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:128722600-128764600	Weak transcription	Esophagus	oesophagus
12	chr4:128725000-128733200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:128727000-128744600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:128727000-128759800	Weak transcription	Brain Angular Gyrus	brain
15	chr4:128728000-128749200	Weak transcription	Brain Substantia Nigra	brain
16	chr4:128729200-128737800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:128729200-128761400	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:128729600-128743600	Weak transcription	Hela-S3	cervix
19	chr4:128729600-128753800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:128730800-128745000	Weak transcription	Brain Anterior Caudate	brain
21	chr4:128730800-128754800	Weak transcription	Liver	Liver
22	chr4:128730800-128755400	Weak transcription	NHEK	skin
23	chr4:128730800-128767000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:128730800-128767200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:128731000-128741000	Weak transcription	HMEC	breast
26	chr4:128732000-128753800	Weak transcription	HepG2	liver
27	chr4:128732000-128761600	Weak transcription	Pancreas	Pancrea
28	chr4:128732000-128764600	Weak transcription	Aorta	Aorta
29	chr4:128732200-128758400	Weak transcription	Left Ventricle	heart
30	chr4:128732600-128733200	Strong transcription	GM12878-XiMat	blood
31	chr4:128732600-128749000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:128732800-128739600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:128733200-128738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:128733200-128742200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:128733200-128749200	Weak transcription	GM12878-XiMat	blood
36	chr4:128736200-128738600	Weak transcription	NHLF	lung
37	chr4:128737800-128739600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:128738000-128745600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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