Variant report

Variant	esv3480443
Chromosome Location	chr8:46845338-46888077
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	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:
3	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
4	chr7:61552820..61553340-chr8:46850618..46851139,4	MCF-7	breast:
5	chr8:46850620..46851121-chr9:66823013..66823520,2	MCF-7	breast:
6	chr11:50731452..50731974-chr8:46856234..46856754,2	MCF-7	breast:
7	chr5:49521747..49523250-chr8:46849640..46851140,2	MCF-7	breast:
8	chr11:48811378..48811898-chr8:46850618..46851141,2	MCF-7	breast:

No data

Extended variants
information (count: 4911 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:4911 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78930781	chr8:46845339-46845340	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs76880959	chr8:46845345-46845346	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543578594	chr8:46845349-46845350	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs556761315	chr8:46845360-46845361	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374263796	chr8:46845381-46845382	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs4493915	chr8:46845389-46845390	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs4510880	chr8:46845391-46845392	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4504646	chr8:46845403-46845404	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs201002617	chr8:46845405-46845406	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76399211	chr8:46845415-46845416	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111238948	chr8:46845416-46845417	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs78867814	chr8:46845417-46845418	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs370405531	chr8:46845418-46845419	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374052576	chr8:46845424-46845425	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs367615948	chr8:46845427-46845428	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201561250	chr8:46845436-46845437	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs62497878	chr8:46845439-46845440	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77353374	chr8:46845443-46845444	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113961984	chr8:46845444-46845445	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs4872883	chr8:46845445-46845446	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs199877177	chr8:46845455-46845456	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs113040029	chr8:46845468-46845469	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs527934669	chr8:46845474-46845475	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4872882	chr8:46845481-46845482	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs377037143	chr8:46845487-46845488	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs111761792	chr8:46845489-46845490	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs74405494	chr8:46845494-46845495	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs4614007	chr8:46845520-46845521	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4297049	chr8:46845522-46845523	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs4529477	chr8:46845540-46845541	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4354316	chr8:46845585-46845586	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs62497880	chr8:46845617-46845618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4493913	chr8:46845620-46845621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570048372	chr8:46845621-46845622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62497881	chr8:46845663-46845664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372633489	chr8:46845667-46845668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78574754	chr8:46845688-46845689	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552044640	chr8:46845691-46845692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565967698	chr8:46845692-46845693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113542640	chr8:46845697-46845698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62497882	chr8:46845702-46845703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201130730	chr8:46845714-46845715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373544097	chr8:46845740-46845741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376143512	chr8:46845743-46845744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370817586	chr8:46845746-46845747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113071112	chr8:46845750-46845751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139296593	chr8:46845790-46845791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77955117	chr8:46845793-46845794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77295573	chr8:46845817-46845818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201040837	chr8:46845872-46845873	ZNF genes & repeats Weak transcription	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:1013 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46841800-46847800	Weak transcription	Lung	lung
2	chr8:46843800-46852400	Weak transcription	NHDF-Ad	bronchial
3	chr8:46844800-46845600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr8:46844800-46845600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
5	chr8:46844800-46845600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:46844800-46845600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
7	chr8:46844800-46845600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:46844800-46845600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:46844800-46845600	ZNF genes & repeats	Colon Smooth Muscle	Colon
10	chr8:46844800-46845600	ZNF genes & repeats	Left Ventricle	heart
11	chr8:46844800-46845600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
12	chr8:46844800-46845600	ZNF genes & repeats	HepG2	liver
13	chr8:46844800-46845800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:46844800-46845800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr8:46844800-46845800	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr8:46844800-46845800	ZNF genes & repeats	Colonic Mucosa	Colon
17	chr8:46844800-46845800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr8:46844800-46846000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:46844800-46846000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr8:46844800-46846000	ZNF genes & repeats	Liver	Liver
21	chr8:46844800-46846000	ZNF genes & repeats	Brain Anterior Caudate	brain
22	chr8:46844800-46847400	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr8:46844800-46847400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr8:46844800-46848000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr8:46844800-46848000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr8:46844800-46848000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:46844800-46848000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:46844800-46848200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr8:46844800-46848200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr8:46844800-46850200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr8:46844800-46852800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr8:46845000-46845400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr8:46845000-46845400	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr8:46845000-46845400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
35	chr8:46845000-46845600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
36	chr8:46845000-46845600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:46845000-46845600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:46845000-46845600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
39	chr8:46845000-46845600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:46845000-46845600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr8:46845000-46845600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:46845000-46845600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
43	chr8:46845000-46845600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:46845000-46845600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
45	chr8:46845000-46845600	ZNF genes & repeats	Brain Angular Gyrus	brain
46	chr8:46845000-46845600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
47	chr8:46845000-46845600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr8:46845000-46845600	ZNF genes & repeats	Fetal Lung	lung
49	chr8:46845000-46845600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
50	chr8:46845000-46845600	ZNF genes & repeats	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links