Variant report

Variant	nsv982000
Chromosome Location	chr8:86266758-86267370
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	FOS	chr8:86267234-86267302	MCF10A-Er-Src	breast:	n/a	n/a
2	NFYB	chr8:86267131-86267333	GM12878	blood:	n/a	chr8:86267237-86267247
3	NR2F2	chr8:86267214-86267460	K562	blood:	n/a	n/a
4	POLR2A	chr8:86267249-86267305	A549	lung:	n/a	n/a
5	POLR2A	chr8:86267205-86267246	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86260251..86261829-chr8:86265124..86266765,2	K562	blood:

Variant related genes	Relation type
CA1	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376073934	chr8:86266777-86266778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569876221	chr8:86266790-86266791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77560314	chr8:86266792-86266793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs725605	chr8:86266886-86266887	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181658785	chr8:86266900-86266901	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534459368	chr8:86266917-86266918	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs75920443	chr8:86266921-86266922	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs557422650	chr8:86266935-86266936	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577050499	chr8:86266995-86266996	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185992572	chr8:86267056-86267057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs563064002	chr8:86267063-86267064	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs111474861	chr8:86267090-86267091	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577597801	chr8:86267132-86267133	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576671759	chr8:86267155-86267156	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs542461460	chr8:86267169-86267170	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs191440741	chr8:86267171-86267172	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs146328775	chr8:86267186-86267187	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112204655	chr8:86267191-86267192	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs7012707	chr8:86267205-86267206	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564553676	chr8:86267222-86267223	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs199768019	chr8:86267236-86267237	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs148124484	chr8:86267314-86267315	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs377174831	chr8:86267319-86267320	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370861406	chr8:86267327-86267328	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86262000-86266800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:86262600-86267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:86264800-86266800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:86264800-86266800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:86264800-86267000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:86265000-86266800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:86265200-86283200	Weak transcription	Fetal Intestine Large	intestine
8	chr8:86265400-86266800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:86265400-86266800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:86265400-86266800	Weak transcription	Fetal Lung	lung
11	chr8:86265400-86266800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:86265400-86267000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:86265400-86267000	Weak transcription	Right Atrium	heart
14	chr8:86265400-86267200	Weak transcription	Psoas Muscle	Psoas
15	chr8:86265400-86278000	Weak transcription	Fetal Intestine Small	intestine
16	chr8:86265600-86266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:86265600-86266800	Weak transcription	NHEK	skin
18	chr8:86266200-86267600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:86266600-86267600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:86266600-86267600	Enhancers	HMEC	breast
21	chr8:86266800-86267200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:86266800-86267200	Enhancers	Duodenum Mucosa	Duodenum
23	chr8:86266800-86267200	Flanking Active TSS	NHEK	skin
24	chr8:86266800-86267400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:86266800-86267400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:86266800-86267400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr8:86266800-86267400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:86266800-86267400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:86266800-86267400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:86266800-86267400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:86266800-86267400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:86266800-86267400	Enhancers	HepG2	liver
33	chr8:86266800-86267600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:86267000-86267400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:86267000-86267400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr8:86267000-86267400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr8:86267200-86267400	Enhancers	Fetal Lung	lung
38	chr8:86267200-86267400	Enhancers	Psoas Muscle	Psoas
39	chr8:86267200-86267400	Enhancers	Right Atrium	heart
40	chr8:86267200-86267400	Enhancers	K562	blood
41	chr8:86267200-86267600	Enhancers	NHEK	skin

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