Variant report

Variant	nsv611227
Chromosome Location	chr8:46843244-46856654
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	chr10:106011870..106012370-chr8:46850618..46851121,2	MCF-7	breast:
2	chr11:48811378..48811898-chr8:46850618..46851141,2	MCF-7	breast:
3	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
4	chr11:50731452..50731974-chr8:46856234..46856754,2	MCF-7	breast:
5	chr5:49521747..49523250-chr8:46849640..46851140,2	MCF-7	breast:
6	chr7:61552820..61553340-chr8:46850618..46851139,4	MCF-7	breast:
7	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:
8	chr8:46850620..46851121-chr9:66823013..66823520,2	MCF-7	breast:

No data

Extended variants
information (count: 1954 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78671997	chr8:46843244-46843245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541154087	chr8:46843250-46843251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75190437	chr8:46843256-46843257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201051592	chr8:46843263-46843264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560942432	chr8:46843278-46843279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111474142	chr8:46843281-46843282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369034229	chr8:46843290-46843291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77514562	chr8:46843293-46843294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199904367	chr8:46843304-46843305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549588683	chr8:46843305-46843306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62497259	chr8:46843323-46843324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4513984	chr8:46843326-46843327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551500937	chr8:46843334-46843335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369382411	chr8:46843338-46843339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373658004	chr8:46843350-46843351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62497861	chr8:46843417-46843418	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs201724371	chr8:46843433-46843434	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200646602	chr8:46843440-46843441	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs62497862	chr8:46843449-46843450	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs62497863	chr8:46843482-46843483	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4513983	chr8:46843491-46843492	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs4540418	chr8:46843500-46843501	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565068864	chr8:46843510-46843511	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533920969	chr8:46843513-46843514	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs76562837	chr8:46843521-46843522	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201214724	chr8:46843530-46843531	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201699465	chr8:46843537-46843538	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs550234521	chr8:46843558-46843559	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76896882	chr8:46843564-46843565	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs75387934	chr8:46843568-46843569	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs80271333	chr8:46843606-46843607	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs536054633	chr8:46843614-46843615	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs75948147	chr8:46843623-46843624	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576277216	chr8:46843628-46843629	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs538890129	chr8:46843629-46843630	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs78054039	chr8:46843631-46843632	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs74836885	chr8:46843633-46843634	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369696707	chr8:46843637-46843638	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs77472925	chr8:46843638-46843639	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs4501590	chr8:46843642-46843643	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77769234	chr8:46843644-46843645	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs62497864	chr8:46843648-46843649	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs112268115	chr8:46843650-46843651	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs113713201	chr8:46843660-46843661	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs75325273	chr8:46843672-46843673	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs78674667	chr8:46843679-46843680	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs79057841	chr8:46843695-46843696	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs75605712	chr8:46843698-46843699	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs62497865	chr8:46843728-46843729	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs111937122	chr8:46843735-46843736	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Oral cancer	21386901	CNVD
Acute myeloid leukemia	20729466	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	21251322	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
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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

Chromatin state (count:847 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46841800-46843400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:46841800-46843400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:46841800-46843400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:46841800-46843400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:46841800-46843400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:46841800-46843400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:46841800-46843400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:46841800-46843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:46841800-46843400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:46841800-46843400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:46841800-46843400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:46841800-46843400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:46841800-46843400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:46841800-46843400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:46841800-46843400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:46841800-46843400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:46841800-46843400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:46841800-46843400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:46841800-46843400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:46841800-46843400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:46841800-46843400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:46841800-46843400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:46841800-46843400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:46841800-46843400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:46841800-46843400	Weak transcription	Liver	Liver
26	chr8:46841800-46843400	Weak transcription	Brain Anterior Caudate	brain
27	chr8:46841800-46843400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:46841800-46843400	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:46841800-46843400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:46841800-46843400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:46841800-46843400	Weak transcription	Brain Substantia Nigra	brain
32	chr8:46841800-46843400	Weak transcription	Colonic Mucosa	Colon
33	chr8:46841800-46843400	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:46841800-46843400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:46841800-46843400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:46841800-46843400	Weak transcription	Fetal Brain Male	brain
37	chr8:46841800-46843400	Weak transcription	Fetal Intestine Large	intestine
38	chr8:46841800-46843400	Weak transcription	Fetal Kidney	kidney
39	chr8:46841800-46843400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:46841800-46843400	Weak transcription	Fetal Lung	lung
41	chr8:46841800-46843400	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:46841800-46843400	Weak transcription	Fetal Stomach	stomach
43	chr8:46841800-46843400	Weak transcription	Fetal Thymus	thymus
44	chr8:46841800-46843400	Weak transcription	Gastric	stomach
45	chr8:46841800-46843400	Weak transcription	Left Ventricle	heart
46	chr8:46841800-46843400	Weak transcription	Psoas Muscle	Psoas
47	chr8:46841800-46843400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:46841800-46843400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:46841800-46843400	Weak transcription	Right Atrium	heart
50	chr8:46841800-46843400	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links