Variant report

Variant	esv12823
Chromosome Location	chr7:17813669-17814724
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	chr7:17811330..17814025-chr7:17979627..17981525,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC9-11	chr7:17812631-17814939	NONHSAT119344

Variant related genes	Relation type
ENSG00000071189	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 86 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2723520	chr7:17813677-17813678	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563248074	chr7:17813739-17813740	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs549250144	chr7:17813756-17813757	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs190907444	chr7:17813802-17813803	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs552873483	chr7:17813831-17813832	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs183106230	chr7:17813859-17813860	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs541836941	chr7:17813862-17813863	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs114861349	chr7:17813916-17813917	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs370776536	chr7:17813941-17813942	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs117542095	chr7:17813989-17813990	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs2723519	chr7:17814005-17814006	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs1404419	chr7:17814029-17814030	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2723518	chr7:17814046-17814047	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2537592	chr7:17814051-17814052	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539449780	chr7:17814064-17814065	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs1404418	chr7:17814085-17814086	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577191406	chr7:17814086-17814087	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs186320204	chr7:17814128-17814129	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs553173408	chr7:17814138-17814139	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs574451173	chr7:17814145-17814146	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs1404417	chr7:17814165-17814166	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs142330463	chr7:17814174-17814175	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs375949687	chr7:17814192-17814193	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs2723517	chr7:17814202-17814203	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs548207644	chr7:17814215-17814216	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs151278921	chr7:17814219-17814220	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs139239722	chr7:17814244-17814245	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs200778859	chr7:17814258-17814259	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs528733701	chr7:17814261-17814262	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs1404416	chr7:17814272-17814273	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2723516	chr7:17814284-17814285	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529456976	chr7:17814296-17814297	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551103842	chr7:17814298-17814299	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs111889055	chr7:17814348-17814349	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs73073356	chr7:17814456-17814457	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11280310	chr7:17814481-17814482	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs190528682	chr7:17814495-17814496	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs182849119	chr7:17814513-17814514	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs534866527	chr7:17814517-17814518	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs2537593	chr7:17814531-17814532	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2537594	chr7:17814536-17814537	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs2723514	chr7:17814548-17814549	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs557047214	chr7:17814562-17814563	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs576151899	chr7:17814571-17814572	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs2068172	chr7:17814607-17814608	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147735619	chr7:17814633-17814634	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs75917178	chr7:17814645-17814646	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs563693268	chr7:17814653-17814654	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs573210851	chr7:17814708-17814709	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs555352239	chr7:17814721-17814722	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17809200-17813800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:17810200-17815000	Enhancers	HMEC	breast
3	chr7:17811600-17813800	Enhancers	Fetal Thymus	thymus
4	chr7:17811800-17814200	Enhancers	Right Ventricle	heart
5	chr7:17812000-17813800	Enhancers	HSMM	muscle
6	chr7:17812000-17814200	Enhancers	Left Ventricle	heart
7	chr7:17812000-17814400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:17812000-17814400	Enhancers	NHLF	lung
9	chr7:17812000-17814600	Enhancers	NHDF-Ad	bronchial
10	chr7:17812000-17815000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:17812000-17815200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:17812200-17813800	Enhancers	Hela-S3	cervix
13	chr7:17812200-17813800	Enhancers	NHEK	skin
14	chr7:17812200-17814600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:17812200-17815200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:17812200-17815400	Enhancers	NH-A	brain
17	chr7:17812400-17814400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:17812400-17814600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:17812400-17815000	Enhancers	Osteobl	bone
20	chr7:17812400-17846200	Weak transcription	Fetal Stomach	stomach
21	chr7:17812400-17852200	Weak transcription	Esophagus	oesophagus
22	chr7:17812600-17813800	Weak transcription	Pancreas	Pancrea
23	chr7:17812600-17814600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:17812600-17887600	Weak transcription	Gastric	stomach
25	chr7:17812800-17813800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr7:17813000-17815000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:17813400-17813800	Flanking Active TSS	Fetal Heart	heart
28	chr7:17813400-17814800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:17813400-17814800	Weak transcription	Placenta	Placenta
30	chr7:17813400-17815000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:17813400-17821200	Weak transcription	Thymus	Thymus
32	chr7:17813600-17813800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:17813600-17879200	Weak transcription	HSMMtube	muscle
34	chr7:17813800-17814200	Enhancers	Fetal Heart	heart
35	chr7:17813800-17815400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:17813800-17833200	Weak transcription	Fetal Thymus	thymus
37	chr7:17813800-17836200	Weak transcription	HSMM	muscle
38	chr7:17814000-17814200	Enhancers	Right Atrium	heart
39	chr7:17814200-17814400	Flanking Active TSS	Fetal Heart	heart
40	chr7:17814200-17814800	Weak transcription	Left Ventricle	heart
41	chr7:17814200-17833200	Weak transcription	Right Ventricle	heart
42	chr7:17814400-17815600	Enhancers	Fetal Heart	heart
43	chr7:17814400-17821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:17814600-17828600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:17814600-17833400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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