Variant report

Variant	esv3433238
Chromosome Location	chr11:8124513-8124952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8121814..8124790-chr11:8126729..8128996,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17847552	chr11:8124521-8124522	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550832752	chr11:8124522-8124523	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117255710	chr11:8124552-8124553	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540163372	chr11:8124554-8124555	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146233691	chr11:8124571-8124572	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566906437	chr11:8124577-8124578	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535570754	chr11:8124578-8124579	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183204033	chr11:8124605-8124606	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17847553	chr11:8124670-8124671	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs17847554	chr11:8124678-8124679	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114181224	chr11:8124682-8124683	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530614776	chr11:8124733-8124734	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72848490	chr11:8124754-8124755	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546124718	chr11:8124772-8124773	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559076628	chr11:8124855-8124856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142412041	chr11:8124895-8124896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563423924	chr11:8124898-8124899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188266431	chr11:8124944-8124945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191672429	chr11:8124948-8124949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8105800-8127400	Weak transcription	HepG2	liver
2	chr11:8109000-8125400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:8112600-8129800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:8113200-8128600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:8114400-8125600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:8114400-8125800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:8114400-8128200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr11:8114400-8130000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:8114400-8133600	Weak transcription	Liver	Liver
10	chr11:8114600-8126800	Weak transcription	Fetal Heart	heart
11	chr11:8114800-8124600	Weak transcription	Small Intestine	intestine
12	chr11:8115200-8128800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:8115400-8129400	Strong transcription	Ovary	ovary
14	chr11:8115800-8128800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr11:8115800-8129400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr11:8116000-8124600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:8116200-8125600	Weak transcription	Colonic Mucosa	Colon
18	chr11:8116200-8132000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:8117000-8157600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:8117600-8124800	Strong transcription	Brain Germinal Matrix	brain
21	chr11:8117800-8124800	Strong transcription	Fetal Intestine Small	intestine
22	chr11:8117800-8126000	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:8117800-8126400	Strong transcription	Brain Anterior Caudate	brain
24	chr11:8117800-8126400	Strong transcription	Fetal Lung	lung
25	chr11:8117800-8128000	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr11:8118000-8126800	Strong transcription	Adipose Nuclei	Adipose
27	chr11:8118000-8129400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:8118000-8132600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:8118200-8124800	Strong transcription	Aorta	Aorta
30	chr11:8118200-8128600	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr11:8118200-8128600	Strong transcription	Fetal Brain Female	brain
32	chr11:8118200-8132400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:8118400-8124600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:8118400-8124800	Strong transcription	Brain Cingulate Gyrus	brain
35	chr11:8118400-8125800	Strong transcription	Fetal Intestine Large	intestine
36	chr11:8118400-8129600	Strong transcription	Fetal Stomach	stomach
37	chr11:8119400-8127200	Strong transcription	Left Ventricle	heart
38	chr11:8119600-8126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:8119800-8128800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:8120000-8125600	Strong transcription	Right Ventricle	heart
41	chr11:8120400-8132400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:8120600-8126200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:8120600-8129400	Weak transcription	HSMM	muscle
44	chr11:8120600-8148400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:8120800-8126800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:8120800-8133200	Weak transcription	NHDF-Ad	bronchial
47	chr11:8121000-8129200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:8121000-8129400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:8121000-8131000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:8121200-8124800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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