Variant report

Variant	esv1004207
Chromosome Location	chr8:61858188-61869664
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:2)
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	chr8:61849973..61853461-chr8:61859040..61861744,3	MCF-7	breast:
2	chr8:61821654..61824637-chr8:61859951..61861851,2	MCF-7	breast:
3	chr8:61865655..61871190-chr8:61872116..61876156,6	K562	blood:
4	chr8:61854686..61856226-chr8:61860743..61862547,2	K562	blood:
5	chr8:61853213..61856894-chr8:61860542..61864181,3	MCF-7	breast:
6	chr8:61851365..61853234-chr8:61857166..61859095,2	K562	blood:
7	chr8:61837800..61840133-chr8:61855900..61858739,2	MCF-7	breast:
8	chr8:61525760..61527520-chr8:61863383..61865720,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLVS1-1	chr8:61865488-61865594	NONHSAT126853
2	lnc-CLVS1-1	chr8:61865489-61865594	ENSG00000254777

No data

Variant related genes	Relation type
ENSG00000254777	chromatin interactions
ENSG00000255397	chromatin interactions

Extended variants
information (count: 458 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553492222	chr8:61858200-61858201	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10957174	chr8:61858213-61858214	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188248115	chr8:61858218-61858219	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534259082	chr8:61858241-61858242	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376531302	chr8:61858249-61858250	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139608659	chr8:61858276-61858277	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576330437	chr8:61858292-61858293	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149671033	chr8:61858329-61858330	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559132339	chr8:61858358-61858359	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577261662	chr8:61858361-61858362	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541476731	chr8:61858374-61858375	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34990806	chr8:61858383-61858384	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147761084	chr8:61858398-61858399	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575517056	chr8:61858452-61858453	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181064096	chr8:61858505-61858506	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563624498	chr8:61858515-61858516	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544615830	chr8:61858517-61858518	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531051626	chr8:61858525-61858526	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552349673	chr8:61858528-61858529	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570978934	chr8:61858590-61858591	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368570361	chr8:61858591-61858592	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554574543	chr8:61858604-61858605	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs66834639	chr8:61858605-61858606	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs59290749	chr8:61858608-61858609	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141233225	chr8:61858651-61858652	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547434767	chr8:61858683-61858684	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186094395	chr8:61858685-61858686	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146956534	chr8:61858739-61858740	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548536293	chr8:61858758-61858759	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569954258	chr8:61858785-61858786	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537286808	chr8:61858806-61858807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558785670	chr8:61858886-61858887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs71513466	chr8:61858919-61858920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140692698	chr8:61858962-61858963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532337107	chr8:61858973-61858974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189402029	chr8:61858998-61858999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1812535	chr8:61859020-61859021	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1812536	chr8:61859039-61859040	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143326442	chr8:61859122-61859123	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575535832	chr8:61859152-61859153	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546047648	chr8:61859159-61859160	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs4644237	chr8:61859168-61859169	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs35696462	chr8:61859179-61859180	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148380377	chr8:61859227-61859228	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141553155	chr8:61859270-61859271	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181455711	chr8:61859308-61859309	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145638818	chr8:61859313-61859314	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573908961	chr8:61859331-61859332	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77817695	chr8:61859333-61859334	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12548688	chr8:61859368-61859369	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Colorectal cancer	21645411	CNVD
Charge syndrome	20571795	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61844400-61858200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:61852600-61858200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr8:61854800-61859200	Enhancers	Fetal Muscle Leg	muscle
4	chr8:61855400-61858800	Enhancers	Fetal Muscle Trunk	muscle
5	chr8:61855400-61860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:61855600-61858400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:61855800-61859200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:61855800-61862200	Enhancers	Brain Hippocampus Middle	brain
9	chr8:61855800-61862400	Enhancers	Brain Anterior Caudate	brain
10	chr8:61856000-61858200	Enhancers	Liver	Liver
11	chr8:61856000-61858800	Enhancers	Brain Cingulate Gyrus	brain
12	chr8:61856000-61858800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr8:61856000-61859400	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:61856000-61862200	Enhancers	HepG2	liver
15	chr8:61856000-61863000	Enhancers	Fetal Thymus	thymus
16	chr8:61856000-61863400	Enhancers	Brain Substantia Nigra	brain
17	chr8:61856200-61859000	Enhancers	GM12878-XiMat	blood
18	chr8:61856200-61862000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:61856200-61863600	Enhancers	Primary B cells from cord blood	blood
20	chr8:61856400-61862600	Weak transcription	Right Atrium	heart
21	chr8:61856400-61862800	Weak transcription	Spleen	Spleen
22	chr8:61856600-61860400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:61856600-61860600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:61856600-61861600	Weak transcription	Adipose Nuclei	Adipose
25	chr8:61856600-61862600	Enhancers	HSMM	muscle
26	chr8:61856800-61860000	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:61856800-61862200	Weak transcription	Fetal Kidney	kidney
28	chr8:61857000-61858400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:61857000-61858800	Enhancers	Brain Angular Gyrus	brain
30	chr8:61857000-61859600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:61857000-61859800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:61857000-61860600	Weak transcription	HMEC	breast
33	chr8:61857000-61862800	Weak transcription	Lung	lung
34	chr8:61857000-61863000	Weak transcription	Left Ventricle	heart
35	chr8:61857000-61863200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr8:61857200-61858200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:61857200-61858400	Weak transcription	Colonic Mucosa	Colon
38	chr8:61857200-61858600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:61857200-61860800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:61857200-61861000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:61857200-61861200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:61857200-61862200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:61857200-61864000	Enhancers	Primary T cells from cord blood	blood
44	chr8:61857400-61859800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:61857400-61861000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:61857600-61858200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr8:61857600-61858800	Enhancers	Fetal Intestine Small	intestine
48	chr8:61857600-61859200	Enhancers	Fetal Intestine Large	intestine
49	chr8:61857600-61860200	Weak transcription	HSMMtube	muscle
50	chr8:61857600-61860400	Weak transcription	Muscle Satellite Cultured Cells	--

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