Variant report

Variant	esv32901
Chromosome Location	chr11:9311131-9328869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:9324133-9324152	K562	blood:	n/a	n/a
2	CEBPB	chr11:9314152-9314192	A549	lung:	n/a	n/a
3	CTCF	chr11:9317140-9317164	ProgFib	skin:	n/a	n/a
4	CTCF	chr11:9312835-9312861	Fibrobl	skin:	n/a	n/a
5	CTCF	chr11:9325320-9325470	HFF-Myc	foreskin:	n/a	n/a
6	CTCF	chr11:9311583-9311618	GM13977	blood:	n/a	n/a
7	MAFF	chr11:9324118-9324321	K562	blood:	n/a	n/a
8	MAFF	chr11:9325813-9326013	HepG2	liver:	n/a	chr11:9325924-9325942
9	MAFF	chr11:9325781-9325985	K562	blood:	n/a	chr11:9325924-9325942
10	MAFK	chr11:9317744-9317755	HepG2	liver:	n/a	n/a
11	MAFK	chr11:9324135-9324297	K562	blood:	n/a	n/a
12	MAFK	chr11:9325791-9326076	IMR90	lung:	n/a	chr11:9325925-9325940 chr11:9325920-9325940 chr11:9325922-9325938
13	MAFK	chr11:9324078-9324379	IMR90	lung:	n/a	n/a
14	MAFK	chr11:9325777-9326080	HepG2	liver:	n/a	chr11:9325925-9325940 chr11:9325920-9325940 chr11:9325922-9325938
15	MAFK	chr11:9325809-9326012	K562	blood:	n/a	chr11:9325925-9325940 chr11:9325920-9325940 chr11:9325922-9325938
16	MAFK	chr11:9325776-9325990	HepG2	liver:	n/a	chr11:9325925-9325940 chr11:9325920-9325940 chr11:9325922-9325938
17	MXI1	chr11:9328713-9328767	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:9322663-9322829	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:9311985-9311990	K562	blood:	n/a	n/a
20	POLR2A	chr11:9311834-9311905	Gliobla	brain:	n/a	n/a
21	POLR2A	chr11:9318939-9319201	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:9312595-9312670	K562	blood:	n/a	n/a
23	POLR2A	chr11:9318471-9318478	K562	blood:	n/a	n/a
24	POLR2A	chr11:9327667-9327683	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:9310532-9311659	A549	lung:	n/a	n/a
26	POLR2A	chr11:9318580-9318591	K562	blood:	n/a	n/a
27	POLR2A	chr11:9321950-9321986	K562	blood:	n/a	n/a
28	POLR2A	chr11:9312797-9312803	K562	blood:	n/a	n/a
29	POLR2A	chr11:9316839-9316904	K562	blood:	n/a	n/a
30	POLR2A	chr11:9312813-9313110	K562	blood:	n/a	n/a
31	POLR2A	chr11:9318281-9318644	K562	blood:	n/a	n/a
32	POLR2A	chr11:9310706-9311629	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:9311931-9311952	Gliobla	brain:	n/a	n/a
34	POLR2A	chr11:9317152-9317340	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:9326088-9326179	K562	blood:	n/a	n/a
36	POLR2A	chr11:9320288-9320505	K562	blood:	n/a	n/a
37	POLR2A	chr11:9318815-9318867	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:9315207-9315423	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:9314554-9315021	K562	blood:	n/a	n/a
40	POLR2A	chr11:9320223-9320256	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:9312273-9312905	K562	blood:	n/a	n/a
42	POLR2A	chr11:9320111-9320147	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:9314686-9314858	K562	blood:	n/a	n/a
44	POLR2A	chr11:9324414-9324490	K562	blood:	n/a	n/a
45	POLR2A	chr11:9314859-9315051	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:9311955-9312056	Gliobla	brain:	n/a	n/a
47	POLR2A	chr11:9324138-9324188	K562	blood:	n/a	n/a
48	POLR2A	chr11:9323031-9323043	A549	lung:	n/a	n/a
49	POLR2A	chr11:9313564-9314609	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:9315407-9315451	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9278298..9280527-chr11:9313092..9315469,2	K562	blood:
2	chr11:9285320..9287424-chr11:9318280..9320535,2	K562	blood:
3	chr11:9320121..9322582-chr11:9335462..9337660,2	K562	blood:
4	chr11:9328102..9338305-chr11:9404480..9412498,38	K562	blood:
5	chr11:9328481..9330937-chr11:9481410..9482943,2	MCF-7	breast:
6	chr11:9321121..9324155-chr11:9406069..9408356,3	K562	blood:
7	chr11:9316943..9319199-chr11:9321655..9323938,2	K562	blood:
8	chr11:9323308..9325382-chr11:9329913..9332100,2	K562	blood:
9	chr11:9324025..9326025-chr11:9386165..9388976,2	K562	blood:
10	chr11:9328690..9334073-chr11:9404480..9408917,7	K562	blood:
11	chr11:9320121..9324688-chr11:9334835..9338165,5	K562	blood:
12	chr11:9315035..9317073-chr11:9404737..9406993,2	K562	blood:
13	chr11:9316306..9317973-chr11:9319550..9321312,2	K562	blood:
14	chr11:9326826..9328669-chr11:9330694..9332491,2	K562	blood:
15	chr11:9316943..9319199-chr11:9321655..9323938,2	K562	blood:
16	chr11:9316306..9317973-chr11:9319550..9321312,2	K562	blood:

No data

Variant related genes	Relation type
TMEM41B	TF binding region
ENSG00000184014	chromatin interactions
ENSG00000166471	chromatin interactions
ENSG00000268403	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000205339	chromatin interactions

Extended variants
information (count: 736 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139542999	chr11:9311156-9311157	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs543623979	chr11:9311165-9311166	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs563574655	chr11:9311166-9311167	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs7114748	chr11:9311172-9311173	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs555228796	chr11:9311239-9311240	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552298603	chr11:9311308-9311309	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs559410609	chr11:9311324-9311325	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs528494919	chr11:9311330-9311331	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs79744038	chr11:9311350-9311351	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs189228770	chr11:9311373-9311374	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs145095205	chr11:9311450-9311451	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs193212417	chr11:9311469-9311470	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs76823115	chr11:9311488-9311489	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs147568869	chr11:9311535-9311536	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs576900463	chr11:9311585-9311586	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs369061813	chr11:9311586-9311587	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs374600899	chr11:9311617-9311618	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs538829593	chr11:9311623-9311624	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs76694657	chr11:9311690-9311691	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs10840199	chr11:9311703-9311704	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534636774	chr11:9311743-9311744	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs12287120	chr11:9311760-9311761	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574359010	chr11:9311766-9311767	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs539955597	chr11:9311784-9311785	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs543735112	chr11:9311796-9311797	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10770009	chr11:9311797-9311798	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10840200	chr11:9311843-9311844	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545949033	chr11:9311882-9311883	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs559798971	chr11:9311887-9311888	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs528548099	chr11:9311891-9311892	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs4993930	chr11:9311911-9311912	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537412834	chr11:9311948-9311949	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs149203644	chr11:9311949-9311950	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs530934365	chr11:9311950-9311951	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs185562473	chr11:9311955-9311956	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs189348831	chr11:9311956-9311957	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs532351242	chr11:9311972-9311973	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs4331093	chr11:9311973-9311974	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150232218	chr11:9311990-9311991	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs79337464	chr11:9312002-9312003	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs180930558	chr11:9312027-9312028	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs10770010	chr11:9312034-9312035	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs540088196	chr11:9312037-9312038	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs143329298	chr11:9312060-9312061	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs76384251	chr11:9312062-9312063	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs185209975	chr11:9312072-9312073	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs67916764	chr11:9312100-9312101	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs577074898	chr11:9312108-9312109	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs546006692	chr11:9312133-9312134	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs140617487	chr11:9312138-9312139	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9319600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9287400-9332600	Weak transcription	HMEC	breast
3	chr11:9287400-9333000	Weak transcription	Gastric	stomach
4	chr11:9287600-9319200	Weak transcription	NHLF	lung
5	chr11:9287800-9312200	Weak transcription	K562	blood
6	chr11:9287800-9328400	Weak transcription	A549	lung
7	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
9	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
11	chr11:9289600-9311600	Weak transcription	HepG2	liver
12	chr11:9289600-9314400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:9290000-9318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:9296600-9320000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
17	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
18	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
19	chr11:9296800-9319800	Weak transcription	Brain Substantia Nigra	brain
20	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
21	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:9296800-9333200	Weak transcription	Ovary	ovary
23	chr11:9297000-9321400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:9297200-9321000	Weak transcription	Left Ventricle	heart
26	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:9299200-9320000	Weak transcription	HSMMtube	muscle
28	chr11:9299600-9312400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:9301600-9321200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:9301600-9321600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:9301800-9312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:9302200-9311800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:9302200-9324800	Weak transcription	Fetal Brain Male	brain
34	chr11:9302400-9320200	Weak transcription	Stomach Mucosa	stomach
35	chr11:9302600-9311200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:9302600-9312000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:9302600-9312200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr11:9302600-9312200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:9302600-9312200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:9302600-9312400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:9302600-9312600	Weak transcription	Thymus	Thymus
42	chr11:9302600-9317000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:9302600-9318200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:9302600-9318400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:9302600-9320600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:9302600-9321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:9302600-9325200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr11:9302600-9332600	Weak transcription	Esophagus	oesophagus
49	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
50	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain

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