Variant report

Variant	esv3443379
Chromosome Location	chr8:52818749-52820797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:52814869..52817627-chr8:52818726..52822449,3	MCF-7	breast:
2	chr8:52816572..52819580-chr8:52820038..52823147,3	K562	blood:
3	chr8:52816572..52819580-chr8:52820038..52823147,3	K562	blood:
4	chr8:52819045..52821559-chr8:52833351..52834979,2	MCF-7	breast:
5	chr8:52818679..52820310-chr8:52823249..52826137,2	K562	blood:
6	chr8:52810071..52814912-chr8:52818559..52824033,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228801	chromatin interactions
ENSG00000168300	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539629025	chr8:52818773-52818774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs117951305	chr8:52818777-52818778	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544814367	chr8:52818827-52818828	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs376918136	chr8:52818862-52818863	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570169645	chr8:52818866-52818867	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs183085037	chr8:52818867-52818868	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531790277	chr8:52818880-52818881	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs578060295	chr8:52818882-52818883	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187420033	chr8:52818917-52818918	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529592430	chr8:52818934-52818935	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548047437	chr8:52818961-52818962	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs148663920	chr8:52818976-52818977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs10958305	chr8:52819024-52819025	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558293001	chr8:52819035-52819036	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs16916958	chr8:52819048-52819049	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555299181	chr8:52819091-52819092	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537266785	chr8:52819098-52819099	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192549061	chr8:52819141-52819142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs183541988	chr8:52819189-52819190	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187885770	chr8:52819191-52819192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs192773720	chr8:52819222-52819223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs142188725	chr8:52819269-52819270	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs577572491	chr8:52819276-52819277	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs72639762	chr8:52819315-52819316	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs577811962	chr8:52819332-52819333	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs544555357	chr8:52819385-52819386	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563063394	chr8:52819450-52819451	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs574958727	chr8:52819509-52819510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs11784869	chr8:52819511-52819512	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562171558	chr8:52819513-52819514	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs10958306	chr8:52819521-52819522	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533747128	chr8:52819599-52819600	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573412814	chr8:52819636-52819637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547816938	chr8:52819651-52819652	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs562166574	chr8:52819718-52819719	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs184266338	chr8:52819804-52819805	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs377400420	chr8:52819822-52819823	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs73583635	chr8:52819854-52819855	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs151270327	chr8:52819884-52819885	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570180547	chr8:52819920-52819921	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs369875354	chr8:52819940-52819941	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537578679	chr8:52819954-52819955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533619963	chr8:52819990-52819991	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs189916156	chr8:52820011-52820012	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs140513695	chr8:52820073-52820074	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534772641	chr8:52820074-52820075	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs7814606	chr8:52820088-52820089	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs11775587	chr8:52820165-52820166	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs370252818	chr8:52820184-52820185	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs541186350	chr8:52820191-52820192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52812800-52822200	Weak transcription	Esophagus	oesophagus
2	chr8:52812800-52827800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:52812800-52833400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:52813200-52822200	Weak transcription	Aorta	Aorta
5	chr8:52813200-52831000	Weak transcription	Right Ventricle	heart
6	chr8:52813200-52833200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:52813400-52826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:52813400-52827000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:52813400-52829000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:52813400-52829200	Weak transcription	Brain Anterior Caudate	brain
11	chr8:52813400-52837200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:52813600-52837400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:52813800-52831600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:52813800-52831600	Weak transcription	Fetal Stomach	stomach
15	chr8:52813800-52833200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:52813800-52835800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:52813800-52837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:52814000-52833200	Weak transcription	Fetal Lung	lung
19	chr8:52814000-52833600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:52814000-52836200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:52814000-52837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:52814000-52839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:52814200-52821200	Weak transcription	Thymus	Thymus
24	chr8:52814200-52842000	Weak transcription	Brain Substantia Nigra	brain
25	chr8:52814200-52850000	Weak transcription	Spleen	Spleen
26	chr8:52814800-52818800	Weak transcription	Psoas Muscle	Psoas
27	chr8:52814800-52821800	Weak transcription	Fetal Intestine Small	intestine
28	chr8:52814800-52829600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:52814800-52834200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:52814800-52834600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:52814800-52837200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:52815000-52852000	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:52815200-52821400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:52815200-52823600	Weak transcription	Adipose Nuclei	Adipose
35	chr8:52815200-52827200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:52815200-52828400	Weak transcription	Dnd41	blood
37	chr8:52815200-52833000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:52815200-52837400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:52815400-52822000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:52816000-52819600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:52816200-52820800	Weak transcription	GM12878-XiMat	blood
42	chr8:52816200-52822000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:52816200-52822000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:52816200-52822200	Weak transcription	Primary B cells from cord blood	blood
45	chr8:52816200-52831000	Weak transcription	Primary T cells from cord blood	blood
46	chr8:52816400-52823200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:52816800-52819000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:52817000-52821200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:52817000-52821400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr8:52817200-52822200	Weak transcription	Fetal Muscle Leg	muscle

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