Variant report

Variant	esv3345744
Chromosome Location	chr11:8444755-8448312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373378959	chr11:8444782-8444783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568035424	chr11:8444788-8444789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536900415	chr11:8444812-8444813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572431188	chr11:8444878-8444879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6578963	chr11:8444906-8444907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138783519	chr11:8444942-8444943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7950679	chr11:8444949-8444950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571514271	chr11:8444971-8444972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572859420	chr11:8445018-8445019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542077497	chr11:8445023-8445024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534081000	chr11:8445097-8445098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12290384	chr11:8445119-8445120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531237325	chr11:8445138-8445139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192956070	chr11:8445172-8445173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184405481	chr11:8445203-8445204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533395889	chr11:8445213-8445214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546958856	chr11:8445250-8445251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112946153	chr11:8445266-8445267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529360350	chr11:8445281-8445282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142752128	chr11:8445340-8445341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567954069	chr11:8445383-8445384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371590597	chr11:8445391-8445392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536843997	chr11:8445434-8445435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147370435	chr11:8445451-8445452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137923700	chr11:8445458-8445459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187546652	chr11:8445533-8445534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192353990	chr11:8445567-8445568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572851948	chr11:8445570-8445571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6578964	chr11:8445629-8445630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs36150531	chr11:8445666-8445667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184898715	chr11:8445709-8445710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6578965	chr11:8445710-8445711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544799995	chr11:8445712-8445713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564805934	chr11:8445781-8445782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189619548	chr11:8445782-8445783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11041913	chr11:8445819-8445820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560450881	chr11:8445855-8445856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529379397	chr11:8445865-8445866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112642963	chr11:8445871-8445872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549111957	chr11:8445899-8445900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6578966	chr11:8445908-8445909	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs530650596	chr11:8445946-8445947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180803684	chr11:8445953-8445954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570433284	chr11:8445984-8445985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6578967	chr11:8445985-8445986	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs546285080	chr11:8445998-8445999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189446892	chr11:8446050-8446051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535103550	chr11:8446094-8446095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555532503	chr11:8446134-8446135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11041914	chr11:8446141-8446142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8426600-8447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:8429600-8451200	Weak transcription	Fetal Heart	heart
3	chr11:8431400-8447000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:8431400-8447400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:8435000-8449000	Weak transcription	Psoas Muscle	Psoas
6	chr11:8439200-8447600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:8446400-8464000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:8446800-8447000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr11:8447000-8448000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:8447000-8453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:8447200-8447800	ZNF genes & repeats	Pancreas	Pancrea
12	chr11:8447200-8448200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:8447200-8450200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:8447400-8448000	ZNF genes & repeats	Ovary	ovary
15	chr11:8447400-8448200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:8447600-8447800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:8447600-8451200	Weak transcription	Right Ventricle	heart
18	chr11:8447800-8448200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:8447800-8451000	Weak transcription	Pancreas	Pancrea
20	chr11:8447800-8456000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:8447800-8464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:8448000-8448800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:8448000-8461000	Weak transcription	Ovary	ovary
24	chr11:8448200-8448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:8448200-8455200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:8448200-8456000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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