Variant report

Variant	nsv982983
Chromosome Location	chr11:9980342-9981342
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	POLR2A	chr11:9981041-9981155	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000254765	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542325028	chr11:9980353-9980354	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555864774	chr11:9980354-9980355	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575813338	chr11:9980355-9980356	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544839529	chr11:9980358-9980359	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564831595	chr11:9980367-9980368	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145697791	chr11:9980372-9980373	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541320435	chr11:9980384-9980385	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147742705	chr11:9980466-9980467	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs558263407	chr11:9980475-9980476	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs185451663	chr11:9980477-9980478	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs140976707	chr11:9980494-9980495	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs10840332	chr11:9980501-9980502	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs552043820	chr11:9980545-9980546	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571815610	chr11:9980614-9980615	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188764687	chr11:9980616-9980617	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs193280825	chr11:9980669-9980670	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs111252510	chr11:9980676-9980677	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs371273685	chr11:9980710-9980711	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs536275518	chr11:9980715-9980716	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555827853	chr11:9980737-9980738	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs575773922	chr11:9980745-9980746	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs17271623	chr11:9980760-9980761	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112712742	chr11:9980770-9980771	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs558281382	chr11:9980810-9980811	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545909148	chr11:9980820-9980821	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs114505929	chr11:9980856-9980857	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs144833949	chr11:9980862-9980863	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs561255724	chr11:9980880-9980881	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs112135057	chr11:9980889-9980890	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573929952	chr11:9980904-9980905	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575126056	chr11:9980922-9980923	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543076641	chr11:9980926-9980927	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs562959701	chr11:9980927-9980928	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs12281244	chr11:9980935-9980936	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116509955	chr11:9981003-9981004	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs565302413	chr11:9981020-9981021	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs527908110	chr11:9981029-9981030	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs35833879	chr11:9981040-9981041	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77660096	chr11:9981094-9981095	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs117398158	chr11:9981095-9981096	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs184260642	chr11:9981125-9981126	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs545961799	chr11:9981129-9981130	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs76476733	chr11:9981145-9981146	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4909917	chr11:9981165-9981166	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs569311606	chr11:9981183-9981184	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs189315710	chr11:9981188-9981189	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs528695083	chr11:9981210-9981211	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572116542	chr11:9981212-9981213	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534846593	chr11:9981213-9981214	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554551484	chr11:9981217-9981218	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	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
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
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9943400-9980600	Weak transcription	Primary T cells from cord blood	blood
2	chr11:9950200-9980400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr11:9952800-9980400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:9952800-9980600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:9952800-9980600	Weak transcription	Spleen	Spleen
6	chr11:9952800-9995200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:9953000-9980400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:9953000-9980400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:9953000-9980400	Weak transcription	Esophagus	oesophagus
10	chr11:9964800-9980400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:9965200-9981000	Weak transcription	HUVEC	blood vessel
12	chr11:9967600-9980400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:9967800-9980400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:9968000-9980400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:9968000-9980400	Weak transcription	Dnd41	blood
16	chr11:9968000-9984000	Weak transcription	Primary B cells from cord blood	blood
17	chr11:9968000-9984200	Weak transcription	Fetal Kidney	kidney
18	chr11:9968200-9980400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:9968400-9980400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:9969200-9980400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:9969400-9980400	Weak transcription	Brain Substantia Nigra	brain
22	chr11:9972800-9980600	Weak transcription	Gastric	stomach
23	chr11:9973000-9986000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:9973200-9980400	Weak transcription	HepG2	liver
25	chr11:9973800-10010600	Weak transcription	Fetal Brain Male	brain
26	chr11:9974000-9980400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:9974000-9980400	Weak transcription	Brain Anterior Caudate	brain
28	chr11:9974200-9980400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:9974200-9980800	Weak transcription	Brain Germinal Matrix	brain
30	chr11:9974200-9994400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:9974200-9994600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:9974200-9994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:9974200-9999000	Weak transcription	Fetal Heart	heart
34	chr11:9974200-9999000	Weak transcription	HSMMtube	muscle
35	chr11:9974400-9980400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:9974400-9980400	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:9974400-9980600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:9974400-9982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:9975400-9985600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:9975600-9981000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:9976200-9980400	Weak transcription	HSMM	muscle
42	chr11:9976400-9980400	Weak transcription	NHEK	skin
43	chr11:9976600-9980400	Weak transcription	A549	lung
44	chr11:9977000-9994400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:9977200-9980400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:9977600-9982000	Weak transcription	Stomach Mucosa	stomach
47	chr11:9977800-9981600	Strong transcription	Fetal Lung	lung
48	chr11:9978200-9981600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:9978600-9980400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:9978600-9981800	Strong transcription	Left Ventricle	heart

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