Variant report

Variant	esv3337994
Chromosome Location	chr8:61687698-61692296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61681233..61684163-chr8:61687430..61689381,2	K562	blood:
2	chr8:61687942..61689827-chr8:61698388..61701380,2	K562	blood:
3	chr8:61684289..61686170-chr8:61692198..61694163,2	K562	blood:
4	chr8:61564873..61567065-chr8:61688816..61690706,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254869	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566788618	chr8:61687699-61687700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16926467	chr8:61687705-61687706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536841344	chr8:61687715-61687716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184043793	chr8:61687780-61687781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375577678	chr8:61687871-61687872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576477864	chr8:61687891-61687892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567576359	chr8:61687894-61687895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71300638	chr8:61687900-61687901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558439687	chr8:61687911-61687912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199684057	chr8:61687912-61687913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376382984	chr8:61687914-61687915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368656998	chr8:61687916-61687917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371221203	chr8:61687918-61687919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200405641	chr8:61687922-61687923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541264343	chr8:61687923-61687924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559650642	chr8:61687924-61687925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71300639	chr8:61687925-61687926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188775443	chr8:61687987-61687988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538062124	chr8:61688017-61688018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192095174	chr8:61688044-61688045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184689388	chr8:61688051-61688052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190621263	chr8:61688169-61688170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181923711	chr8:61688170-61688171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546885840	chr8:61688185-61688186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148322377	chr8:61688265-61688266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567104561	chr8:61688330-61688331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566322279	chr8:61688340-61688341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555709835	chr8:61688386-61688387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538988102	chr8:61688407-61688408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573952385	chr8:61688409-61688410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544444308	chr8:61688473-61688474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141751773	chr8:61688477-61688478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11382482	chr8:61688492-61688493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397692390	chr8:61688498-61688499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577755337	chr8:61688576-61688577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575696107	chr8:61688652-61688653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570402815	chr8:61688654-61688655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187470929	chr8:61688672-61688673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189064920	chr8:61688694-61688695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180948259	chr8:61688696-61688697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185406835	chr8:61688727-61688728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190277327	chr8:61688787-61688788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561266759	chr8:61688846-61688847	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182885000	chr8:61688860-61688861	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531910482	chr8:61688943-61688944	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555099637	chr8:61688950-61688951	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs116810850	chr8:61688964-61688965	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571845114	chr8:61689013-61689014	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537574643	chr8:61689014-61689015	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574877950	chr8:61689048-61689049	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
small cell lung cancer	20016488	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61657000-61690400	Weak transcription	HepG2	liver
2	chr8:61672000-61694400	Weak transcription	A549	lung
3	chr8:61672200-61693400	Weak transcription	Hela-S3	cervix
4	chr8:61672200-61694000	Weak transcription	HUVEC	blood vessel
5	chr8:61677000-61691800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:61679600-61688200	Enhancers	Fetal Lung	lung
7	chr8:61680000-61698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:61680200-61694800	Weak transcription	Lung	lung
9	chr8:61680200-61694800	Weak transcription	K562	blood
10	chr8:61680200-61696200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:61680200-61704200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:61680200-61705200	Weak transcription	Esophagus	oesophagus
13	chr8:61680200-61710400	Weak transcription	Pancreas	Pancrea
14	chr8:61680400-61689400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:61680400-61694600	Weak transcription	Placenta	Placenta
16	chr8:61681000-61694400	Weak transcription	HSMMtube	muscle
17	chr8:61681200-61693600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:61681200-61693600	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:61681200-61694800	Weak transcription	Gastric	stomach
20	chr8:61681200-61696200	Weak transcription	Right Ventricle	heart
21	chr8:61681200-61698600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:61681200-61700400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:61681200-61705200	Weak transcription	Spleen	Spleen
24	chr8:61681400-61693600	Weak transcription	Dnd41	blood
25	chr8:61682200-61705200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:61682600-61688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:61682600-61690800	Weak transcription	Stomach Mucosa	stomach
28	chr8:61682600-61694800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:61683400-61694000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:61683600-61691400	Weak transcription	Fetal Intestine Large	intestine
31	chr8:61683600-61711200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:61683800-61692800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:61683800-61693800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:61683800-61695800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:61684000-61688600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:61684000-61692200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:61684200-61689000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:61685000-61688800	Weak transcription	Primary B cells from cord blood	blood
39	chr8:61685200-61691800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:61685200-61704200	Weak transcription	Small Intestine	intestine
41	chr8:61686000-61692600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:61686000-61698600	Weak transcription	Fetal Intestine Small	intestine
43	chr8:61686200-61688400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:61686200-61693600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:61686200-61693600	Weak transcription	HSMM	muscle
46	chr8:61686200-61694400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:61686200-61694800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:61686200-61694800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:61686400-61689200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:61686600-61688200	Enhancers	Fetal Brain Male	brain

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