Variant report

Variant	nsv528067
Chromosome Location	chr8:49769454-49779947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:49777643..49779526-chr8:49780548..49782346,2	MCF-7	breast:
2	chr8:49779071..49781772-chr8:49783662..49786146,3	K562	blood:
3	chr8:49764914..49766964-chr8:49767999..49770983,2	MCF-7	breast:
4	chr8:49773374..49774880-chr8:49787693..49789657,2	K562	blood:
5	chr8:49776108..49777646-chr8:49810328..49812918,2	MCF-7	breast:
6	chr8:49778368..49779890-chr8:49833727..49835856,2	MCF-7	breast:
7	chr8:49778159..49780891-chr8:49797440..49799639,2	MCF-7	breast:
8	chr8:49776905..49778799-chr8:49782300..49784837,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000019549	chromatin interactions

Extended variants
information (count: 403 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10957281	chr8:49769454-49769455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189142209	chr8:49769465-49769466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181551965	chr8:49769483-49769484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540041243	chr8:49769612-49769613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564698783	chr8:49769621-49769622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79995953	chr8:49769622-49769623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185822103	chr8:49769630-49769631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562621468	chr8:49769634-49769635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149847342	chr8:49769638-49769639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200589882	chr8:49769640-49769641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536460513	chr8:49769641-49769642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529706542	chr8:49769642-49769643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547847085	chr8:49769643-49769644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533024421	chr8:49769648-49769649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376440113	chr8:49769654-49769655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71227641	chr8:49769702-49769703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370057904	chr8:49769705-49769706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200678510	chr8:49769718-49769719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368321758	chr8:49769721-49769722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372279726	chr8:49769722-49769723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375531879	chr8:49769725-49769726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373775963	chr8:49769726-49769727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201635851	chr8:49769740-49769741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547112806	chr8:49769770-49769771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199977741	chr8:49769776-49769777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56780913	chr8:49769778-49769779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201096815	chr8:49769781-49769782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58609760	chr8:49769794-49769795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60910818	chr8:49769804-49769805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201586640	chr8:49769805-49769806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566562539	chr8:49769824-49769825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188653070	chr8:49769831-49769832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552290937	chr8:49769862-49769863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555018866	chr8:49769863-49769864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569840791	chr8:49769881-49769882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181028463	chr8:49769882-49769883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556850334	chr8:49769889-49769890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374357293	chr8:49769942-49769943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148961856	chr8:49769985-49769986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535864627	chr8:49770013-49770014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370856485	chr8:49770015-49770016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553836366	chr8:49770054-49770055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572218176	chr8:49770085-49770086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113617031	chr8:49770110-49770111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557829000	chr8:49770145-49770146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376727241	chr8:49770153-49770154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576658727	chr8:49770207-49770208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143761000	chr8:49770278-49770279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142895186	chr8:49770323-49770324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562820154	chr8:49770341-49770342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Lung cancer	18438408	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
low-grade B-cell lymphoma tumor	18367492	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
small cell lung cancer	20016488	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
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49765400-49776600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:49765600-49769800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:49765600-49773600	Weak transcription	Fetal Brain Male	brain
4	chr8:49765800-49772200	Weak transcription	Fetal Lung	lung
5	chr8:49768200-49775200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:49769400-49772600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:49769800-49770800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:49770000-49770200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:49770200-49772200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:49770800-49771000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:49770800-49771800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:49771000-49772000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:49771800-49776000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:49772000-49773600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:49772200-49772400	Enhancers	Fetal Lung	lung
16	chr8:49772200-49772800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr8:49772200-49773600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:49772400-49772600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:49772400-49772600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:49772400-49772800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:49772400-49772800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:49772400-49772800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:49772400-49772800	Weak transcription	Fetal Lung	lung
24	chr8:49772400-49773200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:49772600-49772800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr8:49772600-49772800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:49772600-49772800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:49772800-49773000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:49772800-49773000	Enhancers	Fetal Kidney	kidney
30	chr8:49772800-49773200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:49772800-49773400	Enhancers	Fetal Lung	lung
32	chr8:49772800-49775800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:49772800-49777000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:49773000-49774800	Weak transcription	Fetal Kidney	kidney
35	chr8:49773000-49775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:49773200-49775800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:49773200-49779200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:49773400-49773600	Enhancers	Right Atrium	heart
39	chr8:49773400-49774600	Weak transcription	Fetal Lung	lung
40	chr8:49773600-49773800	Enhancers	Fetal Brain Male	brain
41	chr8:49773600-49774400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:49773600-49775400	Weak transcription	Right Atrium	heart
43	chr8:49773600-49777400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:49773800-49774200	Weak transcription	Fetal Brain Male	brain
45	chr8:49774200-49774400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr8:49774200-49775400	Enhancers	Fetal Brain Male	brain
47	chr8:49774400-49774800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:49774600-49774800	Enhancers	Lung	lung
49	chr8:49774600-49776400	Enhancers	Fetal Lung	lung
50	chr8:49774800-49775000	Enhancers	Esophagus	oesophagus

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