Variant report

Variant	esv2757288
Chromosome Location	chr8:117623719-117645687
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:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:117514182..117517125-chr8:117641228..117642956,2	MCF-7	breast:
2	chr8:117640802..117642344-chr8:117647571..117649288,2	MCF-7	breast:
3	chr8:117618321..117620667-chr8:117622056..117624055,2	K562	blood:
4	chr8:117614753..117617067-chr8:117626877..117629735,2	K562	blood:
5	chr8:117613564..117617067-chr8:117626508..117629735,3	K562	blood:
6	chr8:117613536..117615216-chr8:117643814..117646572,2	K562	blood:
7	chr8:43096413..43096983-chr8:117640692..117641212,2	MCF-7	breast:
8	chr8:43092931..43093908-chr8:117640711..117641211,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UTP23-1	chr8:117627254-117627525	NONHSAT128376
2	lnc-UTP23-1	chr8:117627255-117627394	NONHSAT128375
3	lnc-UTP23-1	chr8:117627255-117627525	XLOC_006905

No data

Extended variants
information (count: 627 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4323503	chr8:117625800-117625801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71567906	chr8:117625808-117625809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548235554	chr8:117625832-117625833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199497733	chr8:117625839-117625840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529711141	chr8:117625840-117625841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113498759	chr8:117625845-117625846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531506137	chr8:117625852-117625853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190022946	chr8:117625872-117625873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182178346	chr8:117625883-117625884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186667438	chr8:117625954-117625955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554923335	chr8:117625958-117625959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565640831	chr8:117625968-117625969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191130651	chr8:117625976-117625977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1968495	chr8:117625977-117625978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150450384	chr8:117625994-117625995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139845146	chr8:117626012-117626013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183872634	chr8:117626059-117626060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558873079	chr8:117626148-117626149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577163231	chr8:117626149-117626150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527849700	chr8:117626210-117626211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563764033	chr8:117626240-117626241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188420412	chr8:117626241-117626242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559330448	chr8:117626253-117626254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574457837	chr8:117626267-117626268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1529944	chr8:117626328-117626329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549705445	chr8:117626336-117626337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569560580	chr8:117626401-117626402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549996418	chr8:117626434-117626435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373052353	chr8:117626488-117626489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532459397	chr8:117626506-117626507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193093536	chr8:117626547-117626548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565704009	chr8:117626552-117626553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536284659	chr8:117626595-117626596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377602712	chr8:117626598-117626599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114846363	chr8:117626613-117626614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569771348	chr8:117626622-117626623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536742126	chr8:117626646-117626647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559108531	chr8:117626663-117626664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369542405	chr8:117626699-117626700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576982322	chr8:117626716-117626717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7003608	chr8:117626725-117626726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184966421	chr8:117626761-117626762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574770614	chr8:117626767-117626768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142176749	chr8:117626779-117626780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7003645	chr8:117626799-117626800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547595262	chr8:117627284-117627285	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs191420502	chr8:117627317-117627318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs529933730	chr8:117627327-117627328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs115422374	chr8:117627332-117627333	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs569501450	chr8:117627496-117627497	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117625800-117626000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:117625800-117626400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:117625800-117626400	Enhancers	HSMMtube	muscle
4	chr8:117626000-117626400	Enhancers	A549	lung
5	chr8:117626000-117626600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:117626000-117626800	Enhancers	Osteobl	bone
7	chr8:117628200-117628400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:117630400-117631000	Enhancers	Stomach Smooth Muscle	stomach
9	chr8:117630400-117631200	Enhancers	Fetal Lung	lung
10	chr8:117630400-117631400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:117630400-117631400	Enhancers	Fetal Stomach	stomach
12	chr8:117630600-117630800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:117630600-117631000	Weak transcription	Right Atrium	heart
14	chr8:117630600-117631200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:117630800-117631000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:117630800-117631200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:117630800-117631200	Enhancers	Stomach Mucosa	stomach
18	chr8:117630800-117631600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:117631000-117631200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:117631000-117631200	Genic enhancers	Right Atrium	heart
21	chr8:117631000-117631400	Enhancers	Fetal Brain Female	brain
22	chr8:117631000-117631400	Enhancers	Fetal Kidney	kidney
23	chr8:117631000-117631600	Enhancers	Fetal Brain Male	brain
24	chr8:117631000-117631600	Enhancers	Left Ventricle	heart
25	chr8:117631200-117635400	Weak transcription	Fetal Lung	lung
26	chr8:117631200-117635400	Weak transcription	Right Atrium	heart
27	chr8:117631200-117641600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:117631400-117635400	Weak transcription	Fetal Stomach	stomach
29	chr8:117631600-117635600	Weak transcription	Left Ventricle	heart
30	chr8:117632400-117633000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:117634400-117634600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:117635200-117636200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:117635400-117635600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:117635400-117635800	Enhancers	Fetal Lung	lung
35	chr8:117635400-117635800	Enhancers	Right Atrium	heart
36	chr8:117635400-117636200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:117635400-117636200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:117635400-117636200	Enhancers	Fetal Stomach	stomach
39	chr8:117635400-117636400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:117635400-117636400	Enhancers	Fetal Muscle Leg	muscle
41	chr8:117635600-117635800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:117635600-117635800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:117635600-117636000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:117635600-117636400	Enhancers	Pancreas	Pancrea
45	chr8:117635600-117636600	Enhancers	Brain Hippocampus Middle	brain
46	chr8:117635800-117636000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:117635800-117636200	Enhancers	Brain Anterior Caudate	brain
48	chr8:117635800-117636200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr8:117635800-117636600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:117635800-117646200	Weak transcription	Right Atrium	heart

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