Variant report

Variant	esv3417541
Chromosome Location	chr11:34123446-34123919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr11:34123370-34123493	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:34123730-34123749	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:34123608-34128375	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr11:34122011-34123493	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:34121383-34128525	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:34123695-34123700	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:34123729-34124931	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:34123612-34125055	K562	blood:	n/a	n/a
9	POLR2A	chr11:34123823-34123956	K562	blood:	n/a	n/a
10	POLR2A	chr11:34123354-34128182	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:34123197-34123451	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:34123735-34123869	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:34123611-34123849	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:34123646-34123952	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:34123759-34123795	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:34123619-34125081	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:34123847-34123863	MCF-7	breast:	n/a	n/a
18	POLR2A	chr11:34123756-34128262	A549	lung:	n/a	n/a
19	POLR2A	chr11:34119916-34128220	K562	blood:	n/a	n/a
20	POLR2A	chr11:34123801-34123917	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:34123570-34127955	GM12892	blood:	n/a	n/a
22	POLR2A	chr11:34123174-34128281	K562	blood:	n/a	n/a
23	POLR2A	chr11:34123712-34123720	MCF-7	breast:	n/a	n/a
24	POLR2A	chr11:34123712-34128000	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:34123788-34123815	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:34123323-34128328	K562	blood:	n/a	n/a
27	POLR2A	chr11:34123613-34124051	K562	blood:	n/a	n/a
28	POLR2A	chr11:34123811-34127766	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr11:34123782-34123801	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:34072144..34074696-chr11:34123170..34125169,2	MCF-7	breast:
2	chr11:34123093..34125521-chr11:34130481..34132154,2	MCF-7	breast:
3	chr11:34106541..34110325-chr11:34122744..34126295,3	K562	blood:
4	chr11:34115146..34119310-chr11:34123587..34128957,8	K562	blood:
5	chr11:34123654..34124621-chr19:48837343..48837861,2	NB4	blood:
6	chr11:34068673..34076707-chr11:34122442..34129826,21	K562	blood:
7	chr11:34122891..34125542-chr11:34164047..34165563,2	K562	blood:

No data

Variant related genes	Relation type
NAT10	TF binding region
ENSG00000135387	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573873017	chr11:34123476-34123477	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547790621	chr11:34123533-34123534	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567757938	chr11:34123548-34123549	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536744697	chr11:34123605-34123606	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs150232328	chr11:34123644-34123645	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs138879847	chr11:34123647-34123648	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142181293	chr11:34123659-34123660	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188462784	chr11:34123661-34123662	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535811008	chr11:34123665-34123666	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191828416	chr11:34123699-34123700	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs114951072	chr11:34123758-34123759	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544359228	chr11:34123778-34123779	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs75745430	chr11:34123786-34123787	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373249608	chr11:34123807-34123808	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs16925167	chr11:34123814-34123815	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs531060852	chr11:34123833-34123834	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559176843	chr11:34123843-34123844	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528359391	chr11:34123855-34123856	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs60854277	chr11:34123860-34123861	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567804281	chr11:34123863-34123864	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs370809214	chr11:34123871-34123872	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530457229	chr11:34123883-34123884	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34079000-34126600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34083400-34126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:34083600-34124800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:34088600-34124600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:34088800-34124000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:34091200-34123600	Strong transcription	Dnd41	blood
7	chr11:34091600-34123800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:34091600-34124200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:34091800-34124200	Strong transcription	Fetal Thymus	thymus
10	chr11:34091800-34124600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:34091800-34124800	Strong transcription	Fetal Intestine Large	intestine
12	chr11:34092600-34124800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:34092600-34125000	Strong transcription	Liver	Liver
14	chr11:34093400-34124000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr11:34093600-34125000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:34094000-34124000	Strong transcription	Fetal Lung	lung
17	chr11:34096600-34124000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:34097200-34126200	Weak transcription	Stomach Mucosa	stomach
19	chr11:34098000-34124000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:34098000-34124000	Strong transcription	Osteobl	bone
21	chr11:34098000-34124600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:34098000-34125000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:34098000-34125000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:34098200-34124800	Strong transcription	HUVEC	blood vessel
25	chr11:34098200-34125400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:34101400-34123800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:34103800-34124000	Strong transcription	NHDF-Ad	bronchial
28	chr11:34104000-34124000	Strong transcription	Hela-S3	cervix
29	chr11:34104000-34124600	Strong transcription	K562	blood
30	chr11:34104000-34125600	Strong transcription	NH-A	brain
31	chr11:34105600-34124600	Strong transcription	Adipose Nuclei	Adipose
32	chr11:34107400-34125000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:34108000-34124000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr11:34108000-34124800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:34108800-34125000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:34109800-34124600	Strong transcription	HSMMtube	muscle
37	chr11:34110600-34125000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:34110800-34123600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:34110800-34123800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:34110800-34124000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:34111000-34125000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:34111000-34125400	Strong transcription	HSMM	muscle
43	chr11:34111200-34123800	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr11:34111200-34126600	Weak transcription	Small Intestine	intestine
45	chr11:34111400-34123600	Strong transcription	Brain Cingulate Gyrus	brain
46	chr11:34111400-34123800	Strong transcription	Colon Smooth Muscle	Colon
47	chr11:34111400-34124400	Strong transcription	A549	lung
48	chr11:34111600-34124000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:34112600-34126400	Weak transcription	Right Atrium	heart
50	chr11:34116200-34124400	Strong transcription	Fetal Kidney	kidney

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