Variant report

Variant	esv1808901
Chromosome Location	chr8:49173411-49201882
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:49183187..49183854-chr8:49233346..49234106,2	MCF-7	breast:
2	chr8:49178919..49181717-chr8:49182631..49184742,3	K562	blood:
3	chr8:49175604..49178104-chr8:49181839..49183388,2	K562	blood:
4	chr8:49175604..49178104-chr8:49181839..49183388,2	K562	blood:
5	chr8:49183296..49184181-chr8:49838030..49838650,2	MCF-7	breast:
6	chr8:49178987..49179896-chr8:49837365..49838730,6	MCF-7	breast:
7	chr8:49175832..49177590-chr8:49186476..49188807,2	K562	blood:
8	chr8:49175832..49177590-chr8:49186476..49188807,2	K562	blood:
9	chr8:49182446..49185035-chr8:49185453..49187030,2	K562	blood:
10	chr8:49170099..49172520-chr8:49175155..49176676,2	MCF-7	breast:
11	chr8:49182446..49185035-chr8:49185453..49187030,2	K562	blood:
12	chr8:49178740..49180678-chr8:49182631..49185372,2	K562	blood:
13	chr8:49178740..49180678-chr8:49182631..49185372,2	K562	blood:
14	chr8:49178919..49181717-chr8:49182631..49184742,3	K562	blood:
15	chr20:46012558..46013128-chr8:49183132..49183782,2	MCF-7	breast:

No data

Extended variants
information (count: 1119 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1119 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572553591	chr8:49173424-49173425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77378642	chr8:49173452-49173453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187016006	chr8:49173457-49173458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78483123	chr8:49173503-49173504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560159799	chr8:49173522-49173523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556411641	chr8:49173564-49173565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377733108	chr8:49173592-49173593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143504062	chr8:49173598-49173599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535521843	chr8:49173609-49173610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554211514	chr8:49173648-49173649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532003235	chr8:49173665-49173666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147159836	chr8:49173693-49173694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148224449	chr8:49173695-49173696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191441439	chr8:49173704-49173705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531495743	chr8:49173727-49173728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375040949	chr8:49173753-49173754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148644435	chr8:49173762-49173763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183746134	chr8:49173781-49173782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568162503	chr8:49173806-49173807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150772828	chr8:49173889-49173890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562482116	chr8:49173907-49173908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552725350	chr8:49173921-49173922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529802869	chr8:49173998-49173999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541480156	chr8:49174068-49174069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146305230	chr8:49174118-49174119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547589022	chr8:49174123-49174124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559739722	chr8:49174135-49174136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570895220	chr8:49174179-49174180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527262805	chr8:49174196-49174197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189599132	chr8:49174208-49174209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570703694	chr8:49174246-49174247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531454332	chr8:49174261-49174262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539868916	chr8:49174287-49174288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139198719	chr8:49174292-49174293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549940496	chr8:49174314-49174315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568114132	chr8:49174324-49174325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535974495	chr8:49174365-49174366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193230556	chr8:49174369-49174370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566113697	chr8:49174412-49174413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539818423	chr8:49174415-49174416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556581626	chr8:49174442-49174443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558531804	chr8:49174495-49174496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576662640	chr8:49174503-49174504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543715135	chr8:49174544-49174545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555933558	chr8:49174551-49174552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574126205	chr8:49174595-49174596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541543840	chr8:49174606-49174607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576849039	chr8:49174626-49174627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559802542	chr8:49174665-49174666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527318186	chr8:49174672-49174673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49166200-49173800	Weak transcription	Right Atrium	heart
2	chr8:49168000-49174000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:49170800-49173800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:49171600-49173600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:49171600-49173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:49172800-49175200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:49173000-49174200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:49173000-49175200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:49173200-49175000	Enhancers	Adipose Nuclei	Adipose
10	chr8:49173200-49175200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:49173200-49178800	Weak transcription	Spleen	Spleen
12	chr8:49173200-49182000	Weak transcription	Esophagus	oesophagus
13	chr8:49173400-49174000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:49173400-49174800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:49173400-49175000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:49173400-49175000	Enhancers	Fetal Stomach	stomach
17	chr8:49173400-49175200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:49173400-49175200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:49173400-49175200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:49173400-49175400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:49173400-49175400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:49173400-49175800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:49173400-49186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:49173600-49174200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:49173600-49174200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:49173600-49175200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:49173800-49174200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr8:49173800-49174200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:49173800-49174200	Enhancers	Right Atrium	heart
30	chr8:49173800-49174400	Enhancers	Fetal Muscle Trunk	muscle
31	chr8:49173800-49174400	Enhancers	HSMMtube	muscle
32	chr8:49173800-49175000	Enhancers	Fetal Muscle Leg	muscle
33	chr8:49173800-49175200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:49173800-49176600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:49174000-49174200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:49174000-49174400	Enhancers	Placenta	Placenta
37	chr8:49174000-49175200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:49174000-49175200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:49174200-49174600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:49174200-49175000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:49174200-49175000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:49174200-49177200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:49174200-49181600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:49174200-49186400	Weak transcription	Right Atrium	heart
45	chr8:49174400-49175600	Weak transcription	Placenta	Placenta
46	chr8:49174600-49175200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:49174600-49175200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:49174800-49175000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:49174800-49179000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:49175000-49175200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links