Variant report

Variant	nsv442218
Chromosome Location	chr11:9435220-9441409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:9438426-9438733	A549	lung:	n/a	n/a
2	CEBPB	chr11:9438474-9438621	K562	blood:	n/a	n/a
3	CEBPB	chr11:9438561-9438629	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr11:9438415-9438711	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr11:9438352-9438710	A549	lung:	n/a	n/a
6	CEBPB	chr11:9438419-9438739	IMR90	lung:	n/a	n/a
7	GATA3	chr11:9435240-9435428	SH-SY5Y	brain:	n/a	n/a
8	POLR2A	chr11:9437691-9437821	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:9439589-9439597	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:9439723-9439734	K562	blood:	n/a	n/a
11	POLR2A	chr11:9439012-9439017	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:9436557-9436749	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:9438065-9438105	K562	blood:	n/a	n/a
14	POLR2A	chr11:9437517-9437750	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:9438676-9438745	K562	blood:	n/a	n/a
16	POLR2A	chr11:9438295-9438543	K562	blood:	n/a	n/a
17	POLR2A	chr11:9437240-9437354	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:9437649-9437769	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:9440194-9440379	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:9438236-9438909	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr11:9440022-9440167	K562	blood:	n/a	n/a
22	POLR2A	chr11:9437732-9437954	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:9439806-9439893	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:9439778-9439800	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:9437565-9437930	K562	blood:	n/a	n/a
26	POLR2A	chr11:9436495-9436866	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr11:9437482-9439142	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr11:9437474-9437877	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr11:9439250-9439488	K562	blood:	n/a	n/a
30	STAT3	chr11:9436074-9436157	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9405378..9407950-chr11:9434831..9437279,2	K562	blood:
2	chr11:9437079..9439269-chr11:9480528..9482761,2	K562	blood:
3	chr11:9434001..9435891-chr11:9461817..9464038,2	K562	blood:
4	chr11:9405441..9408326-chr11:9437351..9440584,3	K562	blood:
5	chr11:9438906..9440744-chr11:9443977..9445733,2	K562	blood:
6	chr11:9431010..9433547-chr11:9436022..9438258,2	K562	blood:
7	chr11:9430650..9433547-chr11:9436208..9438258,2	K562	blood:
8	chr11:9405090..9407610-chr11:9440133..9443604,3	MCF-7	breast:
9	chr11:9286000..9287603-chr11:9432684..9435250,2	K562	blood:
10	chr11:9404645..9406941-chr11:9436480..9438851,2	K562	blood:
11	chr11:9336578..9339387-chr11:9437499..9440422,2	K562	blood:
12	chr11:9427119..9429993-chr11:9435420..9437551,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM41B-4	chr11:9438533-9438844	expReg_chr11_1387_-

No data

Variant related genes	Relation type
IPO7	TF binding region
ENSG00000268403	chromatin interactions
ENSG00000205339	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000184014	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184135137	chr11:9435248-9435249	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535783200	chr11:9435285-9435286	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189509563	chr11:9435369-9435370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567716731	chr11:9435412-9435413	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192599024	chr11:9435491-9435492	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544952799	chr11:9435506-9435507	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565245513	chr11:9435512-9435513	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527934406	chr11:9435523-9435524	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541275833	chr11:9435524-9435525	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561139286	chr11:9435554-9435555	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555635174	chr11:9435566-9435567	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184796931	chr11:9435593-9435594	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549985195	chr11:9435628-9435629	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188680325	chr11:9435646-9435647	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532418327	chr11:9435713-9435714	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373831439	chr11:9435752-9435753	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377622731	chr11:9435754-9435755	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181512165	chr11:9435777-9435778	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111867960	chr11:9435796-9435797	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199667498	chr11:9435821-9435822	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376273953	chr11:9435873-9435874	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113591524	chr11:9435940-9435941	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534069607	chr11:9436067-9436068	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547646225	chr11:9436103-9436104	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567446913	chr11:9436107-9436108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536415263	chr11:9436130-9436131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146662493	chr11:9436149-9436150	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538441798	chr11:9436205-9436206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558034472	chr11:9436233-9436234	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576045651	chr11:9436234-9436235	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538261569	chr11:9436261-9436262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558129743	chr11:9436263-9436264	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35588675	chr11:9436271-9436272	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186044701	chr11:9436275-9436276	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368162731	chr11:9436312-9436313	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189139553	chr11:9436373-9436374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577688557	chr11:9436398-9436399	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541313018	chr11:9436406-9436407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112988790	chr11:9436497-9436498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561174095	chr11:9436561-9436562	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574955856	chr11:9436586-9436587	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543961744	chr11:9436639-9436640	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375195198	chr11:9436640-9436641	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369203870	chr11:9436745-9436746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12801513	chr11:9436801-9436802	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs532634224	chr11:9436826-9436827	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs552643713	chr11:9436842-9436843	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559766853	chr11:9436861-9436862	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs182452889	chr11:9436953-9436954	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547733563	chr11:9436961-9436962	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9407600-9442000	Weak transcription	Fetal Brain Male	brain
2	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:9416000-9456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:9419200-9446600	Weak transcription	Small Intestine	intestine
5	chr11:9419600-9471000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:9419800-9444200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:9420000-9440200	Weak transcription	Fetal Kidney	kidney
8	chr11:9420600-9442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:9420600-9450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:9421000-9471200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:9421600-9436400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:9423000-9470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:9424200-9470400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:9424800-9437800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:9424800-9438200	Strong transcription	Fetal Thymus	thymus
16	chr11:9424800-9438200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:9424800-9468600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:9424800-9469000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:9424800-9470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:9425000-9468200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:9425000-9468400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr11:9425200-9467200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:9425400-9438800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:9425600-9446800	Weak transcription	Colonic Mucosa	Colon
25	chr11:9425800-9468000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:9426200-9471600	Strong transcription	Dnd41	blood
27	chr11:9426400-9443000	Strong transcription	Hela-S3	cervix
28	chr11:9426800-9437800	Strong transcription	HepG2	liver
29	chr11:9426800-9468400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:9426800-9470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:9427200-9466800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:9427600-9471000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:9428800-9435800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:9429800-9437600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:9429800-9443000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:9429800-9469000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:9430000-9438800	Strong transcription	Placenta	Placenta
38	chr11:9430200-9437200	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:9430200-9438400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:9430200-9438600	Strong transcription	HUVEC	blood vessel
41	chr11:9430200-9459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:9430200-9470200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:9430400-9437800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:9430400-9437800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:9430400-9438000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:9430400-9438200	Strong transcription	Fetal Lung	lung
47	chr11:9430400-9438600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:9430400-9457400	Strong transcription	A549	lung
49	chr11:9430400-9468200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:9430600-9438200	Strong transcription	Fetal Intestine Large	intestine

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