Variant report

Variant	esv3362978
Chromosome Location	chr8:64110597-64111575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:64109221..64111336-chr8:64112891..64115469,2	K562	blood:
2	chr8:64099330..64103376-chr8:64108595..64113469,4	K562	blood:
3	chr8:64079451..64084180-chr8:64108494..64113879,10	K562	blood:

Variant related genes	Relation type
ENSG00000185728	chromatin interactions
ENSG00000270673	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12680800	chr8:64110598-64110599	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs374258242	chr8:64110600-64110601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556388858	chr8:64110626-64110627	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76129687	chr8:64110634-64110635	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575546681	chr8:64110659-64110660	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs544386784	chr8:64110697-64110698	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs80325902	chr8:64110718-64110719	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539282236	chr8:64110784-64110785	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs561077044	chr8:64110786-64110787	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554393487	chr8:64110811-64110812	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs530007038	chr8:64110814-64110815	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572803255	chr8:64110823-64110824	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs542971532	chr8:64110866-64110867	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561590792	chr8:64110889-64110890	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs117589607	chr8:64110919-64110920	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs183734709	chr8:64110949-64110950	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188103641	chr8:64110955-64110956	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs181331806	chr8:64110974-64110975	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547222630	chr8:64110980-64110981	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559144576	chr8:64111075-64111076	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529864507	chr8:64111083-64111084	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs148141903	chr8:64111102-64111103	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553981914	chr8:64111104-64111105	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185465784	chr8:64111111-64111112	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531658144	chr8:64111115-64111116	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs189940628	chr8:64111154-64111155	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563319245	chr8:64111167-64111168	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs571806214	chr8:64111186-64111187	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs141873384	chr8:64111209-64111210	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201265621	chr8:64111216-64111217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs150646230	chr8:64111244-64111245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs182025719	chr8:64111260-64111261	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs186619205	chr8:64111274-64111275	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554967730	chr8:64111286-64111287	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192413275	chr8:64111315-64111316	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs543090317	chr8:64111335-64111336	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369874162	chr8:64111409-64111410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551878017	chr8:64111466-64111467	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568593921	chr8:64111506-64111507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs79612026	chr8:64111507-64111508	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs183806823	chr8:64111514-64111515	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572140296	chr8:64111515-64111516	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs186944587	chr8:64111521-64111522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs147583913	chr8:64111532-64111533	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528308608	chr8:64111538-64111539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs16930250	chr8:64111551-64111552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs199636370	chr8:64111568-64111569	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148237684	chr8:64111569-64111570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs138659679	chr8:64111570-64111571	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs67524053	chr8:64111571-64111572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64100000-64118800	Weak transcription	Esophagus	oesophagus
2	chr8:64100400-64112600	Weak transcription	Stomach Mucosa	stomach
3	chr8:64100600-64113200	Weak transcription	Hela-S3	cervix
4	chr8:64100600-64122200	Weak transcription	Fetal Kidney	kidney
5	chr8:64100600-64127000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:64100800-64113000	Weak transcription	HSMMtube	muscle
7	chr8:64101200-64117200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:64101600-64128000	Weak transcription	Colonic Mucosa	Colon
9	chr8:64101600-64136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:64102200-64112400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:64103400-64111800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:64103400-64115800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:64103400-64119800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:64103400-64127400	Weak transcription	Thymus	Thymus
15	chr8:64103600-64111800	Weak transcription	HepG2	liver
16	chr8:64103600-64112600	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:64103600-64115000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:64103600-64119800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr8:64103600-64120600	Weak transcription	Dnd41	blood
20	chr8:64103600-64121400	Weak transcription	Fetal Thymus	thymus
21	chr8:64103600-64122200	Weak transcription	Placenta	Placenta
22	chr8:64103600-64129800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:64104000-64111800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:64104200-64111800	Weak transcription	Fetal Intestine Large	intestine
25	chr8:64104400-64124800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:64105000-64111200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr8:64105000-64112400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:64105200-64112600	Weak transcription	A549	lung
29	chr8:64105200-64112800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:64105200-64114000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:64105200-64122400	Weak transcription	NHDF-Ad	bronchial
32	chr8:64105400-64111800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:64105400-64111800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:64105400-64112600	Weak transcription	NH-A	brain
35	chr8:64105400-64113400	Weak transcription	HSMM	muscle
36	chr8:64105400-64114400	Weak transcription	Fetal Lung	lung
37	chr8:64105400-64122200	Weak transcription	K562	blood
38	chr8:64105600-64116400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:64105600-64116400	Weak transcription	Brain Substantia Nigra	brain
40	chr8:64105800-64111800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:64105800-64111800	Weak transcription	Small Intestine	intestine
42	chr8:64105800-64112600	Weak transcription	Aorta	Aorta
43	chr8:64105800-64114400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:64105800-64119000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:64105800-64122200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:64106200-64115200	Weak transcription	Fetal Stomach	stomach
47	chr8:64106400-64110600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:64107000-64127200	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:64107000-64132000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:64107400-64110600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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