Variant report

Variant	esv34500
Chromosome Location	chr7:19415543-19573763
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:19552748..19555589-chr7:19559461..19562039,2	K562	blood:
2	chr7:19429082..19431210-chr7:19440295..19442664,2	K562	blood:
3	chr7:19429082..19431210-chr7:19440295..19442664,2	K562	blood:
4	chr7:19552748..19555589-chr7:19559461..19562039,2	K562	blood:
5	chr7:19161356..19162289-chr7:19481424..19482541,6	MCF-7	breast:
6	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
7	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC9-5	chr7:19444955-19444993	ENSG00000223838
2	lnc-HDAC9-5	chr7:19443324-19443386	ENSG00000223838

No data

Extended variants
information (count: 4614 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:4614 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190156764	chr7:19415701-19415702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531448116	chr7:19415703-19415704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139099463	chr7:19415757-19415758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562645806	chr7:19415777-19415778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115499151	chr7:19415828-19415829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181363993	chr7:19415837-19415838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566555191	chr7:19415852-19415853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184791754	chr7:19415870-19415871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188000794	chr7:19415887-19415888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117966772	chr7:19415910-19415911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528555610	chr7:19415933-19415934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373729414	chr7:19415962-19415963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571377321	chr7:19415967-19415968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538711556	chr7:19416052-19416053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180906103	chr7:19416062-19416063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186148983	chr7:19416125-19416126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536236772	chr7:19416131-19416132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544812815	chr7:19416138-19416139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190811207	chr7:19416162-19416163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182247993	chr7:19416169-19416170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565042123	chr7:19416173-19416174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564704784	chr7:19416222-19416223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142303902	chr7:19416231-19416232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186926338	chr7:19416236-19416237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368835381	chr7:19416281-19416282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550613431	chr7:19416293-19416294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560203028	chr7:19416314-19416315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560803500	chr7:19416332-19416333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191772238	chr7:19416368-19416369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149998452	chr7:19416386-19416387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183074046	chr7:19416406-19416407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561430226	chr7:19416421-19416422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117607048	chr7:19416425-19416426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185728245	chr7:19416449-19416450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571900041	chr7:19416457-19416458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539221643	chr7:19416501-19416502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189704235	chr7:19416534-19416535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565765890	chr7:19416551-19416552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13245212	chr7:19416561-19416562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535874509	chr7:19416562-19416563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554509666	chr7:19416578-19416579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546617741	chr7:19416614-19416615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576274907	chr7:19416660-19416661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182362400	chr7:19416720-19416721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186895853	chr7:19416726-19416727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372086521	chr7:19416727-19416728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542530252	chr7:19416747-19416748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567214599	chr7:19416751-19416752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112417705	chr7:19416761-19416762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556131572	chr7:19416763-19416764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19415600-19416000	Enhancers	HMEC	breast
2	chr7:19415600-19416400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:19415600-19417000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:19415800-19417800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:19415800-19417800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:19416000-19417400	Enhancers	Osteobl	bone
7	chr7:19416200-19417400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:19416200-19417400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:19416200-19417600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:19416200-19417600	Enhancers	Fetal Lung	lung
11	chr7:19416200-19417800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:19416400-19416800	Enhancers	NHLF	lung
13	chr7:19416400-19417400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:19416400-19417800	Enhancers	NHDF-Ad	bronchial
15	chr7:19416400-19418200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:19416600-19417400	Enhancers	NH-A	brain
17	chr7:19416600-19417800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:19416600-19417800	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:19416600-19418200	Enhancers	Fetal Stomach	stomach
20	chr7:19416800-19417800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:19416800-19418000	Enhancers	Colon Smooth Muscle	Colon
22	chr7:19417000-19417400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:19417000-19417400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:19417000-19417600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr7:19417000-19417600	Active TSS	Stomach Smooth Muscle	stomach
26	chr7:19417000-19417600	Active TSS	NHLF	lung
27	chr7:19417200-19417800	Enhancers	HSMM	muscle
28	chr7:19417400-19417600	Flanking Active TSS	Fetal Kidney	kidney
29	chr7:19417400-19417600	Enhancers	Ovary	ovary
30	chr7:19417400-19417600	Active TSS	Right Atrium	heart
31	chr7:19417400-19417800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:19417400-19417800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:19417400-19417800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:19417400-19417800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr7:19417400-19417800	Active TSS	Brain Substantia Nigra	brain
36	chr7:19417400-19417800	Enhancers	Fetal Brain Male	brain
37	chr7:19417400-19417800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr7:19417400-19418000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:19417400-19418000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:19417400-19418000	Flanking Active TSS	NH-A	brain
41	chr7:19417400-19418000	Flanking Active TSS	Osteobl	bone
42	chr7:19417400-19418200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:19417600-19417800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:19417600-19417800	Active TSS	Fetal Kidney	kidney
45	chr7:19417600-19417800	Flanking Active TSS	Right Atrium	heart
46	chr7:19417600-19417800	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr7:19417600-19417800	Flanking Active TSS	NHLF	lung
48	chr7:19417600-19418200	Enhancers	Fetal Brain Female	brain
49	chr7:19417600-19420600	Weak transcription	Fetal Lung	lung
50	chr7:19417600-19422600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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