Variant report

Variant	esv3376447
Chromosome Location	chr11:18643982-18644515
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	chr11:18608348..18610776-chr11:18643416..18646152,2	MCF-7	breast:
2	chr11:18643136..18646726-chr11:18653855..18655704,3	K562	blood:

Variant related genes	Relation type
ENSG00000151116	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189443086	chr11:18644003-18644004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552161407	chr11:18644050-18644051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570708667	chr11:18644079-18644080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531853066	chr11:18644105-18644106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139188506	chr11:18644108-18644109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117529312	chr11:18644128-18644129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11825891	chr11:18644157-18644158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12576634	chr11:18644224-18644225	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565990239	chr11:18644270-18644271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539699189	chr11:18644273-18644274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149937158	chr11:18644290-18644291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181833669	chr11:18644296-18644297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543540955	chr11:18644297-18644298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555151649	chr11:18644311-18644312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575021049	chr11:18644356-18644357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147606313	chr11:18644367-18644368	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142445998	chr11:18644369-18644370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184488098	chr11:18644389-18644390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111235428	chr11:18644453-18644454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377603281	chr11:18644483-18644484	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201928023	chr11:18644502-18644503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18629000-18654400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:18630800-18654800	Weak transcription	Psoas Muscle	Psoas
3	chr11:18637000-18645400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:18637000-18655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:18637400-18644400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:18637400-18654400	Weak transcription	Brain Angular Gyrus	brain
7	chr11:18637400-18654400	Weak transcription	Fetal Intestine Small	intestine
8	chr11:18637400-18654800	Weak transcription	Esophagus	oesophagus
9	chr11:18637400-18654800	Weak transcription	Lung	lung
10	chr11:18637400-18654800	Weak transcription	Pancreas	Pancrea
11	chr11:18637600-18645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:18637600-18650000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:18637600-18650600	Weak transcription	Gastric	stomach
14	chr11:18637600-18654000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:18637600-18654200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:18637600-18654200	Weak transcription	Hela-S3	cervix
17	chr11:18637600-18654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:18637600-18654400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:18637600-18654400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:18637600-18654800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:18637600-18654800	Weak transcription	Right Ventricle	heart
22	chr11:18637600-18654800	Weak transcription	Spleen	Spleen
23	chr11:18637800-18654800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:18637800-18654800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:18637800-18654800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:18638000-18650000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:18638000-18654400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:18638000-18654400	Weak transcription	Fetal Intestine Large	intestine
29	chr11:18638000-18654600	Weak transcription	Brain Substantia Nigra	brain
30	chr11:18638200-18654800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:18638400-18654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:18638400-18654400	Weak transcription	K562	blood
33	chr11:18638400-18654800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:18638800-18649800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:18639800-18644200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr11:18639800-18644800	Weak transcription	Primary B cells from cord blood	blood
37	chr11:18640200-18654600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr11:18640400-18645200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:18640400-18654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:18640400-18654200	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:18640400-18654400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:18640400-18654400	Weak transcription	HepG2	liver
43	chr11:18640400-18654800	Weak transcription	Aorta	Aorta
44	chr11:18640600-18645000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:18640600-18648400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:18640600-18654200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:18640600-18654200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:18640600-18654400	Weak transcription	A549	lung
49	chr11:18640600-18654400	Weak transcription	NH-A	brain
50	chr11:18640600-18654600	Weak transcription	Primary monocytes fromperipheralblood	blood

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