Variant report

Variant	nsv519052
Chromosome Location	chr11:8453594-8474884
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	ARID3A	chr11:8463522-8463730	HepG2	liver:	n/a	n/a
2	BACH1	chr11:8463832-8464134	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr11:8471506-8471836	A549	lung:	n/a	n/a
4	CEBPB	chr11:8471641-8471792	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr11:8471597-8471834	IMR90	lung:	n/a	n/a
6	CEBPB	chr11:8471492-8471848	HepG2	liver:	n/a	n/a
7	CTCF	chr11:8468235-8468317	GM13976	blood:	n/a	n/a
8	CUX1	chr11:8463328-8463656	GM12878	blood:	n/a	n/a
9	FOXA1	chr11:8458575-8458917	HepG2	liver:	n/a	n/a
10	FOXA1	chr11:8458502-8458964	HepG2	liver:	n/a	n/a
11	MAFF	chr11:8472166-8472419	HepG2	liver:	n/a	chr11:8472282-8472300
12	MAFF	chr11:8462281-8462470	K562	blood:	n/a	n/a
13	MAFF	chr11:8462261-8462548	HepG2	liver:	n/a	n/a
14	MAFK	chr11:8472160-8472442	HepG2	liver:	n/a	chr11:8472284-8472299
15	MAFK	chr11:8472278-8472339	H1-hESC	embryonic stem cell:	n/a	chr11:8472284-8472299
16	MAFK	chr11:8462218-8462560	HepG2	liver:	n/a	chr11:8462376-8462387 chr11:8462375-8462389 chr11:8462376-8462391 chr11:8462376-8462387 chr11:8462376-8462392
17	MAFK	chr11:8472214-8472469	HepG2	liver:	n/a	chr11:8472284-8472299
18	MAFK	chr11:8465852-8465980	HepG2	liver:	n/a	n/a
19	MAFK	chr11:8463852-8464183	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAFK	chr11:8462233-8462552	HepG2	liver:	n/a	chr11:8462376-8462387 chr11:8462375-8462389 chr11:8462376-8462391 chr11:8462376-8462387 chr11:8462376-8462392
21	MAX	chr11:8463780-8464088	NB4	blood:	n/a	chr11:8463867-8463877
22	MAZ	chr11:8474022-8474038	HepG2	liver:	n/a	n/a
23	MYC	chr11:8463612-8464084	NB4	blood:	n/a	chr11:8463867-8463877
24	POLR2A	chr11:8461740-8461889	Gliobla	brain:	n/a	n/a
25	POLR2A	chr11:8471928-8471950	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:8454543-8454714	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:8458318-8458399	Gliobla	brain:	n/a	n/a
28	RCOR1	chr11:8463534-8463723	GM12878	blood:	n/a	n/a
29	SPI1	chr11:8463522-8463728	GM12891	blood:	n/a	chr11:8463643-8463652
30	SPI1	chr11:8463547-8463716	GM12878	blood:	n/a	chr11:8463643-8463652
31	STAT3	chr11:8460266-8460397	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr11:8460656-8460768	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr11:8465826-8465899	MCF10A-Er-Src	breast:	n/a	n/a
34	TBL1XR1	chr11:8463524-8463700	GM12878	blood:	n/a	n/a
35	TBP	chr11:8455259-8455287	K562	blood:	n/a	n/a

Variant related genes	Relation type
STK33	TF binding region

Extended variants
information (count: 859 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2121312	chr11:8453594-8453595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538791223	chr11:8453602-8453603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534264152	chr11:8453646-8453647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554040756	chr11:8453662-8453663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371298363	chr11:8453739-8453740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550510315	chr11:8453817-8453818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573724756	chr11:8453834-8453835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184056537	chr11:8453871-8453872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569600388	chr11:8453872-8453873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373546592	chr11:8453875-8453876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570614461	chr11:8453897-8453898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558588523	chr11:8453913-8453914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188945236	chr11:8453945-8453946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150102235	chr11:8453946-8453947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368784957	chr11:8453958-8453959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376752158	chr11:8454000-8454001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371284882	chr11:8454053-8454054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544397220	chr11:8454105-8454106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191228872	chr11:8454170-8454171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533142678	chr11:8454245-8454246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11041919	chr11:8454246-8454247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138395012	chr11:8454315-8454316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183732666	chr11:8454330-8454331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188448052	chr11:8454336-8454337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543401212	chr11:8454348-8454349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369699611	chr11:8454419-8454420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558604314	chr11:8454434-8454435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75793479	chr11:8454449-8454450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541001546	chr11:8454451-8454452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12363733	chr11:8454487-8454488	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551961376	chr11:8454490-8454491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571793660	chr11:8454582-8454583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78498928	chr11:8454637-8454638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547717961	chr11:8454667-8454668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141494888	chr11:8454724-8454725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191746771	chr11:8454733-8454734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536266685	chr11:8454757-8454758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554494882	chr11:8454777-8454778	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556089162	chr11:8454791-8454792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189130736	chr11:8454802-8454803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181062369	chr11:8454803-8454804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397717890	chr11:8454811-8454812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532712694	chr11:8454918-8454919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576489147	chr11:8454928-8454929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58745256	chr11:8454974-8454975	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185012871	chr11:8455007-8455008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190257077	chr11:8455140-8455141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145227882	chr11:8455146-8455147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560470218	chr11:8455167-8455168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573958030	chr11:8455194-8455195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8446400-8464000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:8447000-8453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:8447800-8456000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:8447800-8464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:8448000-8461000	Weak transcription	Ovary	ovary
6	chr11:8448200-8455200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:8448200-8456000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:8448800-8454400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:8451600-8456000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:8451600-8463600	Weak transcription	Fetal Heart	heart
11	chr11:8451600-8464000	Weak transcription	Left Ventricle	heart
12	chr11:8453800-8464000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:8454400-8458200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:8454600-8454800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr11:8454600-8456200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:8455200-8456000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:8456000-8456400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:8456000-8456400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:8456000-8456600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:8456000-8456800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:8456000-8457000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr11:8456200-8457000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr11:8456400-8458200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:8456400-8463800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:8456600-8463200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:8456800-8463400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:8457000-8458800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:8457000-8463400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:8458200-8463200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:8458200-8463400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:8460000-8460200	Enhancers	Fetal Lung	lung
32	chr11:8460200-8463600	Weak transcription	Fetal Lung	lung
33	chr11:8460200-8481200	Weak transcription	Fetal Kidney	kidney
34	chr11:8461000-8462000	Strong transcription	Ovary	ovary
35	chr11:8462000-8484600	Weak transcription	Ovary	ovary
36	chr11:8463200-8463600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:8463200-8465000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:8463400-8464400	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:8463400-8464600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:8463400-8465000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:8463600-8464400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:8463600-8464600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr11:8463600-8464600	Enhancers	Fetal Heart	heart
44	chr11:8463600-8464600	Enhancers	Fetal Lung	lung
45	chr11:8463800-8464000	Enhancers	Brain Germinal Matrix	brain
46	chr11:8463800-8464400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr11:8463800-8464400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:8463800-8464600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr11:8463800-8464600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:8464000-8464200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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