Variant report

Variant	esv3404419
Chromosome Location	chr8:87442736-87444284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:87444000-87444150	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:87443926-87443969	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:87443836-87444591	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:87444041-87444048	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:87443973-87444008	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:87442756-87442763	MCF-7	breast:	n/a	n/a
7	POLR2A	chr8:87444109-87444169	HepG2	liver:	n/a	n/a
8	ZNF274	chr8:87443137-87443519	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87440126..87442804-chr8:87449363..87451230,2	K562	blood:
2	chr8:87443232..87446931-chr8:87452708..87455402,3	MCF-7	breast:
3	chr8:87432419..87434118-chr8:87442366..87444392,2	K562	blood:

Variant related genes	Relation type
WWP1	TF binding region
ENSG00000123124	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9656826	chr8:87442753-87442754	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575294865	chr8:87442759-87442760	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537889501	chr8:87442767-87442768	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570495310	chr8:87442774-87442775	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534435122	chr8:87442797-87442798	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540508029	chr8:87442806-87442807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560155221	chr8:87442807-87442808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553903774	chr8:87442863-87442864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199667539	chr8:87442877-87442878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201617981	chr8:87442943-87442944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148344407	chr8:87442956-87442957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200895342	chr8:87442987-87442988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200744944	chr8:87443005-87443006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372189504	chr8:87443015-87443016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199876369	chr8:87443016-87443017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531422895	chr8:87443020-87443021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555471567	chr8:87443027-87443028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377319623	chr8:87443028-87443029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62510795	chr8:87443030-87443031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62510796	chr8:87443040-87443041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62510797	chr8:87443042-87443043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373392396	chr8:87443044-87443045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376310736	chr8:87443046-87443047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71275850	chr8:87443056-87443057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9657012	chr8:87443058-87443059	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs561701668	chr8:87443086-87443087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9657013	chr8:87443163-87443164	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs530360650	chr8:87443168-87443169	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs547286107	chr8:87443194-87443195	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs199830853	chr8:87443250-87443251	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs187796002	chr8:87443270-87443271	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs12680943	chr8:87443300-87443301	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs35869673	chr8:87443310-87443311	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200341450	chr8:87443391-87443392	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs111216005	chr8:87443394-87443395	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs12680961	chr8:87443428-87443429	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542835537	chr8:87443448-87443449	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370844847	chr8:87443464-87443465	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs552343578	chr8:87443519-87443520	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs528574199	chr8:87443537-87443538	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569057520	chr8:87443547-87443548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs28405675	chr8:87443582-87443583	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs76053304	chr8:87443641-87443642	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370133616	chr8:87443675-87443676	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537928175	chr8:87443737-87443738	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140616897	chr8:87443745-87443746	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574794232	chr8:87443755-87443756	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144382154	chr8:87443760-87443761	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201863324	chr8:87443861-87443862	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs61761628	chr8:87443894-87443895	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Prostate cancer	17016436	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:87405400-87443600	Weak transcription	NHLF	lung
4	chr8:87416400-87443600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:87426000-87446400	Weak transcription	K562	blood
6	chr8:87427400-87452600	Weak transcription	HSMMtube	muscle
7	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:87428200-87443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:87428600-87460800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:87429400-87443600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:87429400-87443600	Weak transcription	Small Intestine	intestine
12	chr8:87429400-87443800	Weak transcription	Brain Angular Gyrus	brain
13	chr8:87429400-87453600	Weak transcription	Stomach Mucosa	stomach
14	chr8:87429800-87443800	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:87429800-87444000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:87431600-87443800	Weak transcription	Colonic Mucosa	Colon
17	chr8:87431800-87443600	Weak transcription	GM12878-XiMat	blood
18	chr8:87432400-87443800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:87432600-87451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:87432800-87443800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:87436400-87443600	Weak transcription	Fetal Brain Female	brain
22	chr8:87436400-87451800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:87436800-87451600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr8:87436800-87483200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr8:87437200-87445600	Strong transcription	Fetal Intestine Large	intestine
26	chr8:87437200-87450400	Strong transcription	Dnd41	blood
27	chr8:87437400-87451400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr8:87437400-87451600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:87437400-87451800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:87437400-87451800	Strong transcription	Fetal Lung	lung
31	chr8:87437400-87452200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:87437400-87452600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:87437400-87453000	Strong transcription	Liver	Liver
34	chr8:87437400-87456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:87437400-87457800	Strong transcription	Fetal Thymus	thymus
36	chr8:87437400-87458000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:87437400-87458000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:87437400-87458200	Strong transcription	Placenta	Placenta
39	chr8:87437400-87482800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:87437600-87448800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:87437600-87451600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:87437600-87452000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr8:87438000-87443800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:87438000-87451600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:87438000-87451800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:87438000-87457800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr8:87438200-87443600	Weak transcription	Fetal Heart	heart
49	chr8:87438200-87443600	Weak transcription	HSMM	muscle
50	chr8:87438400-87442800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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