Variant report

Variant	esv3357776
Chromosome Location	chr8:61861811-61864920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61853213..61856894-chr8:61860542..61864181,3	MCF-7	breast:
2	chr8:61525760..61527520-chr8:61863383..61865720,2	K562	blood:
3	chr8:61821654..61824637-chr8:61859951..61861851,2	MCF-7	breast:
4	chr8:61854686..61856226-chr8:61860743..61862547,2	K562	blood:

Variant related genes	Relation type
ENSG00000254777	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573599298	chr8:61861827-61861828	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532912829	chr8:61861840-61861841	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544057707	chr8:61861850-61861851	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368741091	chr8:61861853-61861854	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192546089	chr8:61861854-61861855	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371217970	chr8:61861859-61861860	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532953147	chr8:61861860-61861861	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544925658	chr8:61861897-61861898	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7001269	chr8:61861899-61861900	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369149963	chr8:61861915-61861916	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs58541505	chr8:61861927-61861928	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs28694332	chr8:61861970-61861971	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549404202	chr8:61861977-61861978	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145160572	chr8:61862037-61862038	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140758985	chr8:61862079-61862080	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550468303	chr8:61862101-61862102	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs386726030	chr8:61862106-61862107	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376242179	chr8:61862108-61862109	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs184163679	chr8:61862115-61862116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576667541	chr8:61862228-61862229	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs567046732	chr8:61862317-61862318	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7001966	chr8:61862346-61862347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557874326	chr8:61862348-61862349	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs6982130	chr8:61862366-61862367	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189549538	chr8:61862428-61862429	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150247309	chr8:61862435-61862436	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573263917	chr8:61862477-61862478	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75536875	chr8:61862489-61862490	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76586737	chr8:61862534-61862535	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577810281	chr8:61862569-61862570	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181204613	chr8:61862595-61862596	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560249260	chr8:61862597-61862598	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527796993	chr8:61862598-61862599	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563350184	chr8:61862617-61862618	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543109370	chr8:61862628-61862629	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs561289618	chr8:61862638-61862639	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs531717301	chr8:61862762-61862763	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs550529137	chr8:61862774-61862775	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs199875165	chr8:61862781-61862782	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs28535141	chr8:61862784-61862785	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs202240621	chr8:61862786-61862787	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs75253878	chr8:61862810-61862811	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566221628	chr8:61862821-61862822	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs11985124	chr8:61862837-61862838	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186706932	chr8:61862849-61862850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs527936858	chr8:61862850-61862851	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs11988513	chr8:61862880-61862881	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145788345	chr8:61862943-61862944	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs188903249	chr8:61862947-61862948	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs73264719	chr8:61862977-61862978	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61855800-61862200	Enhancers	Brain Hippocampus Middle	brain
2	chr8:61855800-61862400	Enhancers	Brain Anterior Caudate	brain
3	chr8:61856000-61862200	Enhancers	HepG2	liver
4	chr8:61856000-61863000	Enhancers	Fetal Thymus	thymus
5	chr8:61856000-61863400	Enhancers	Brain Substantia Nigra	brain
6	chr8:61856200-61862000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:61856200-61863600	Enhancers	Primary B cells from cord blood	blood
8	chr8:61856400-61862600	Weak transcription	Right Atrium	heart
9	chr8:61856400-61862800	Weak transcription	Spleen	Spleen
10	chr8:61856600-61862600	Enhancers	HSMM	muscle
11	chr8:61856800-61862200	Weak transcription	Fetal Kidney	kidney
12	chr8:61857000-61862800	Weak transcription	Lung	lung
13	chr8:61857000-61863000	Weak transcription	Left Ventricle	heart
14	chr8:61857000-61863200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:61857200-61862200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:61857200-61864000	Enhancers	Primary T cells from cord blood	blood
17	chr8:61857800-61862600	Weak transcription	Fetal Stomach	stomach
18	chr8:61857800-61862800	Weak transcription	Esophagus	oesophagus
19	chr8:61858000-61863600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:61858200-61862800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:61858200-61864200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:61858400-61863200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:61858600-61862400	Weak transcription	Colonic Mucosa	Colon
24	chr8:61858600-61862600	Weak transcription	Pancreas	Pancrea
25	chr8:61859200-61862600	Weak transcription	Fetal Intestine Large	intestine
26	chr8:61859400-61862200	Weak transcription	Liver	Liver
27	chr8:61859600-61862200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:61859800-61862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:61859800-61863000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:61859800-61863200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr8:61859800-61863400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:61859800-61863400	Enhancers	Brain Angular Gyrus	brain
33	chr8:61859800-61865800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr8:61860000-61862200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:61860000-61862800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr8:61860000-61863200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:61860000-61863600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:61860000-61864000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:61860000-61864200	Enhancers	Primary B cells from peripheral blood	blood
40	chr8:61860200-61862200	Enhancers	GM12878-XiMat	blood
41	chr8:61860200-61862400	Enhancers	HSMMtube	muscle
42	chr8:61860200-61863000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:61860200-61863200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr8:61860200-61863400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:61860200-61866000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:61860400-61863000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:61860400-61863800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:61860400-61866000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:61860600-61862000	Enhancers	Fetal Muscle Trunk	muscle
50	chr8:61860600-61862000	Weak transcription	Rectal Mucosa Donor 29	rectum

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