Variant report

Variant	esv2758107
Chromosome Location	chr7:19436043-19620962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:102456863..102457700-chr7:19592037..19592862,2	MCF-7	breast:
2	chr7:19161356..19162289-chr7:19481424..19482541,6	MCF-7	breast:
3	chr7:19610590..19613391-chr7:19614778..19616457,3	K562	blood:
4	chr7:19552748..19555589-chr7:19559461..19562039,2	K562	blood:
5	chr7:19429082..19431210-chr7:19440295..19442664,2	K562	blood:
6	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
7	chr7:18732759..18733606-chr7:19591000..19591516,2	MCF-7	breast:
8	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
9	chr7:19610590..19613391-chr7:19614778..19616457,3	K562	blood:
10	chr7:19552748..19555589-chr7:19559461..19562039,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC9-5	chr7:19444955-19444993	ENSG00000223838
2	lnc-HDAC9-12	chr7:19584677-19584754	NONHSAT119386
3	lnc-HDAC9-5	chr7:19618152-19618229	ENSG00000223838
4	lnc-HDAC9-12	chr7:19582435-19582566	NONHSAT119386
5	lnc-HDAC9-5	chr7:19615910-19616041	ENSG00000223838
6	lnc-HDAC9-5	chr7:19443324-19443386	ENSG00000223838

No data

Extended variants
information (count: 6197 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:6197 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564249836	chr7:19436046-19436047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567956909	chr7:19436075-19436076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150882961	chr7:19436078-19436079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547903137	chr7:19436086-19436087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375444391	chr7:19436126-19436127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536602663	chr7:19436182-19436183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548612489	chr7:19436187-19436188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570297356	chr7:19436210-19436211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562002479	chr7:19436269-19436270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190194895	chr7:19436299-19436300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367583655	chr7:19436322-19436323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182824639	chr7:19436353-19436354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34154624	chr7:19436354-19436355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531350515	chr7:19436358-19436359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577010763	chr7:19436384-19436385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534455346	chr7:19436417-19436418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2191901	chr7:19436443-19436444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574357071	chr7:19436446-19436447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558698495	chr7:19436467-19436468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185308968	chr7:19436475-19436476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563455936	chr7:19436537-19436538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544258919	chr7:19436589-19436590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140387545	chr7:19436591-19436592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144338143	chr7:19436707-19436708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564313081	chr7:19436718-19436719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575563088	chr7:19436740-19436741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571839666	chr7:19436747-19436748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534150946	chr7:19436777-19436778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547936963	chr7:19436807-19436808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547915456	chr7:19436818-19436819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189866554	chr7:19436835-19436836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559758899	chr7:19436855-19436856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374903411	chr7:19436865-19436866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530057576	chr7:19436867-19436868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147768477	chr7:19436890-19436891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75614778	chr7:19436904-19436905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531098817	chr7:19436908-19436909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537384943	chr7:19436915-19436916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552444814	chr7:19436924-19436925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371709442	chr7:19436943-19436944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140720321	chr7:19437010-19437011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145027793	chr7:19437069-19437070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534846210	chr7:19437086-19437087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552663314	chr7:19437109-19437110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373297065	chr7:19437156-19437157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183666994	chr7:19437195-19437196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535177583	chr7:19437208-19437209	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189108613	chr7:19437213-19437214	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs575121693	chr7:19437221-19437222	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs73258496	chr7:19437243-19437244	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19432400-19436800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:19432600-19437200	Weak transcription	HSMM	muscle
3	chr7:19432600-19437400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:19432600-19437400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:19432600-19437400	Weak transcription	NHDF-Ad	bronchial
6	chr7:19432800-19437200	Weak transcription	Osteobl	bone
7	chr7:19432800-19437400	Weak transcription	NH-A	brain
8	chr7:19432800-19441400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:19436800-19437200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:19437000-19438200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:19437000-19438600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:19437000-19438600	Enhancers	Dnd41	blood
13	chr7:19437000-19439600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:19437200-19437400	Enhancers	Osteobl	bone
15	chr7:19437200-19437600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:19437200-19437600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:19437200-19437600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr7:19437200-19437800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:19437200-19437800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:19437200-19437800	Enhancers	HSMM	muscle
21	chr7:19437200-19438000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:19437200-19438200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:19437200-19438200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:19437200-19438400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:19437400-19437600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:19437400-19437800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:19437400-19437800	Enhancers	HMEC	breast
28	chr7:19437400-19437800	Enhancers	NHDF-Ad	bronchial
29	chr7:19437400-19437800	Flanking Active TSS	Osteobl	bone
30	chr7:19437400-19438000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:19437400-19438000	Enhancers	NH-A	brain
32	chr7:19437600-19437800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:19437600-19438000	Enhancers	NHLF	lung
34	chr7:19437600-19438400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:19437800-19438000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:19437800-19438200	Enhancers	Osteobl	bone
37	chr7:19437800-19439600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:19437800-19443200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:19437800-19443200	Weak transcription	NHDF-Ad	bronchial
40	chr7:19438000-19438600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:19438000-19441000	Weak transcription	NHLF	lung
42	chr7:19438000-19443600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:19438200-19439200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:19438200-19443600	Weak transcription	Osteobl	bone
45	chr7:19438600-19444000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:19438600-19444200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:19438600-19444200	Weak transcription	Dnd41	blood
48	chr7:19439200-19439600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:19439600-19440000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:19439600-19440200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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