Variant report

Variant	nsv528141
Chromosome Location	chr11:3718129-3722304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:3718020-3718568	SK-N-SH	brain:	n/a	chr11:3718495-3718506
2	GATA3	chr11:3720577-3721104	MCF-7	breast:	n/a	n/a
3	GATA3	chr11:3720584-3721128	MCF-7	breast:	n/a	n/a
4	GATA3	chr11:3718016-3718598	SK-N-SH	brain:	n/a	chr11:3718495-3718506
5	MAZ	chr11:3721187-3721292	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:3718659-3718770	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:3718801-3718904	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:3718542-3718603	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:3718346-3718458	K562	blood:	n/a	n/a
10	POLR2A	chr11:3718810-3718811	K562	blood:	n/a	n/a
11	POLR2A	chr11:3718300-3718504	K562	blood:	n/a	n/a
12	POLR2A	chr11:3718812-3718828	K562	blood:	n/a	n/a
13	POLR2A	chr11:3719858-3720010	K562	blood:	n/a	n/a
14	POLR2A	chr11:3719358-3719566	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:3721240-3721513	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:3718717-3718772	ProgFib	skin:	n/a	n/a
17	POLR2A	chr11:3718353-3718532	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:3721698-3722483	K562	blood:	n/a	n/a
19	POLR2A	chr11:3716540-3718769	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr11:3718952-3719043	K562	blood:	n/a	n/a
21	POLR2A	chr11:3718572-3718755	Hela-S3	cervix:	n/a	n/a
22	STAT3	chr11:3720767-3721076	MCF10A-Er-Src	breast:	n/a	n/a
23	TCF12	chr11:3718064-3718578	SK-N-SH	brain:	n/a	n/a
24	USF2	chr11:3720553-3720566	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3720373..3721894-chr11:3731559..3733138,2	K562	blood:
2	chr11:3715464..3718270-chr11:3722517..3724123,2	K562	blood:
3	chr11:3715464..3719300-chr11:3722517..3725866,4	K562	blood:

Variant related genes	Relation type
NUP98	TF binding region
ENSG00000110713	chromatin interactions

Extended variants
information (count: 217 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12362694	chr11:3718129-3718130	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186508440	chr11:3718238-3718239	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190954015	chr11:3718240-3718241	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148979569	chr11:3718263-3718264	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577316527	chr11:3718281-3718282	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534856571	chr11:3718286-3718287	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs554668418	chr11:3718337-3718338	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs541464438	chr11:3718410-3718411	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559583967	chr11:3718428-3718429	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574623405	chr11:3718430-3718431	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568856837	chr11:3718638-3718639	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs181035525	chr11:3718687-3718688	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548475421	chr11:3718711-3718712	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs563562579	chr11:3718746-3718747	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs185929102	chr11:3718767-3718768	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs552460373	chr11:3718768-3718769	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570067412	chr11:3718785-3718786	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147123912	chr11:3718789-3718790	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546612654	chr11:3718791-3718792	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568044378	chr11:3718820-3718821	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112764808	chr11:3718830-3718831	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs147733944	chr11:3718831-3718832	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569084361	chr11:3718869-3718870	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs61666484	chr11:3718870-3718871	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs59160242	chr11:3718872-3718873	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539699257	chr11:3718922-3718923	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543499462	chr11:3718956-3718957	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558084345	chr11:3718960-3718961	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs563578131	chr11:3718984-3718985	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs540005965	chr11:3719008-3719009	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs59675506	chr11:3719022-3719023	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191624936	chr11:3719038-3719039	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs2599733	chr11:3719048-3719049	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374820495	chr11:3719051-3719052	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541052225	chr11:3719100-3719101	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142355310	chr11:3719102-3719103	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574811141	chr11:3719129-3719130	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542324993	chr11:3719211-3719212	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183003089	chr11:3719229-3719230	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531010844	chr11:3719249-3719250	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546034993	chr11:3719269-3719270	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544983148	chr11:3719286-3719287	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146307908	chr11:3719305-3719306	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375059589	chr11:3719375-3719376	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs528813774	chr11:3719401-3719402	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11029116	chr11:3719405-3719406	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs527516310	chr11:3719408-3719409	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs186846387	chr11:3719430-3719431	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs148295344	chr11:3719450-3719451	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs76797252	chr11:3719474-3719475	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3685000-3728000	Strong transcription	Stomach Smooth Muscle	stomach
2	chr11:3685000-3743800	Strong transcription	Duodenum Mucosa	Duodenum
3	chr11:3685200-3728200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:3685200-3728200	Strong transcription	Thymus	Thymus
5	chr11:3685200-3730000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:3685200-3766800	Strong transcription	Placenta	Placenta
7	chr11:3685400-3728200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr11:3685400-3728400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:3685400-3731200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:3685400-3733400	Strong transcription	Fetal Intestine Large	intestine
11	chr11:3685400-3739000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:3685400-3741600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:3685400-3743800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:3685400-3802600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:3685600-3719000	Strong transcription	Primary T cells from cord blood	blood
16	chr11:3685600-3728400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:3685600-3728400	Strong transcription	Adipose Nuclei	Adipose
18	chr11:3685600-3805600	Strong transcription	Fetal Thymus	thymus
19	chr11:3685800-3754200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:3685800-3776200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr11:3685800-3779800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:3686000-3779800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:3686400-3724000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:3686600-3802600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:3686800-3719000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:3686800-3757400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:3687000-3730400	Strong transcription	Liver	Liver
28	chr11:3687000-3805600	Strong transcription	Dnd41	blood
29	chr11:3687200-3767000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:3687600-3743800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:3687600-3802200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr11:3687600-3802200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:3687800-3801400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:3690000-3724200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr11:3691200-3721600	Strong transcription	Fetal Stomach	stomach
36	chr11:3692200-3731600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr11:3692600-3728200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:3693400-3729000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:3693400-3731400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:3693600-3729400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:3693600-3731400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:3693800-3731200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:3694000-3730600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:3694000-3731400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:3695000-3730200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:3695400-3728000	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr11:3695800-3720600	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr11:3696000-3730600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:3696200-3731800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:3696200-3779800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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