Variant report

Variant	esv1797209
Chromosome Location	chr11:8417452-8474015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8410697..8412576-chr11:8424308..8425820,2	K562	blood:
2	chr11:8359755..8360256-chr11:8424898..8425398,2	K562	blood:
3	chr11:8410429..8412576-chr11:8424308..8426564,3	K562	blood:

Extended variants
information (count: 2124 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2124 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189126536	chr11:8417462-8417463	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs544111209	chr11:8417475-8417476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs35022013	chr11:8417503-8417504	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs533057781	chr11:8417508-8417509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs546220709	chr11:8417509-8417510	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560069781	chr11:8417514-8417515	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs559016509	chr11:8417551-8417552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373790779	chr11:8417554-8417555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528998944	chr11:8417555-8417556	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549026631	chr11:8417566-8417567	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs58650381	chr11:8417574-8417575	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538388810	chr11:8417586-8417587	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs552000934	chr11:8417606-8417607	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10840033	chr11:8417607-8417608	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114781961	chr11:8417621-8417622	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535808839	chr11:8417636-8417637	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199590460	chr11:8417651-8417652	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368346912	chr11:8417656-8417657	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200648566	chr11:8417659-8417660	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386750505	chr11:8417661-8417662	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112389113	chr11:8417666-8417667	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377160642	chr11:8417667-8417668	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556582490	chr11:8417679-8417680	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184915452	chr11:8417689-8417690	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190811558	chr11:8417690-8417691	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60565857	chr11:8417720-8417721	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180813455	chr11:8417744-8417745	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142255967	chr11:8417772-8417773	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186209442	chr11:8417776-8417777	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544904745	chr11:8417793-8417794	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375206524	chr11:8417794-8417795	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555970220	chr11:8417813-8417814	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189465307	chr11:8417851-8417852	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181255850	chr11:8417872-8417873	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146385240	chr11:8417895-8417896	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558095695	chr11:8417908-8417909	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186984408	chr11:8417942-8417943	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578119800	chr11:8417956-8417957	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552037855	chr11:8417972-8417973	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571847482	chr11:8418013-8418014	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145378338	chr11:8418054-8418055	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539992173	chr11:8418072-8418073	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534520162	chr11:8418087-8418088	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190518350	chr11:8418100-8418101	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113452326	chr11:8418102-8418103	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7479191	chr11:8418131-8418132	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs139823965	chr11:8418136-8418137	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573302972	chr11:8418161-8418162	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34297209	chr11:8418170-8418171	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs538723035	chr11:8418180-8418181	ZNF genes & repeats 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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8411000-8417600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:8411200-8417600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:8411200-8417600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:8411600-8417600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:8415600-8417600	Weak transcription	Fetal Lung	lung
6	chr11:8417200-8417600	Weak transcription	Ovary	ovary
7	chr11:8417200-8418400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:8417600-8417800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr11:8417600-8417800	ZNF genes & repeats	Fetal Lung	lung
10	chr11:8417600-8418200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:8417600-8418200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:8417600-8418400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr11:8418200-8420200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:8424200-8424400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:8424400-8430200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:8425800-8426200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:8426600-8447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:8427600-8428000	Active TSS	K562	blood
19	chr11:8429200-8431200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:8429600-8451200	Weak transcription	Fetal Heart	heart
21	chr11:8429800-8430000	Enhancers	Brain Substantia Nigra	brain
22	chr11:8429800-8430600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:8429800-8430600	Enhancers	Brain Anterior Caudate	brain
24	chr11:8429800-8430600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:8429800-8431000	Enhancers	Brain Hippocampus Middle	brain
26	chr11:8430000-8430400	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr11:8430000-8430600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:8430200-8430400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr11:8430200-8430600	Enhancers	Brain Angular Gyrus	brain
30	chr11:8430200-8430600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:8430200-8430800	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:8430200-8431000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:8430200-8431000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr11:8430400-8430600	Enhancers	Left Ventricle	heart
35	chr11:8430400-8431000	Enhancers	Brain Substantia Nigra	brain
36	chr11:8430400-8431200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr11:8430600-8436400	Weak transcription	Left Ventricle	heart
38	chr11:8431000-8434400	Weak transcription	Brain Substantia Nigra	brain
39	chr11:8431400-8447000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:8431400-8447400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:8434800-8435000	Enhancers	Psoas Muscle	Psoas
42	chr11:8435000-8449000	Weak transcription	Psoas Muscle	Psoas
43	chr11:8439200-8447600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:8446400-8464000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:8446800-8447000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr11:8447000-8448000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:8447000-8453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:8447200-8447800	ZNF genes & repeats	Pancreas	Pancrea
49	chr11:8447200-8448200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:8447200-8450200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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