Variant report

Variant	esv1850143
Chromosome Location	chr8:100650034-100692370
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:100683905..100686290-chr8:100687390..100689544,2	MCF-7	breast:
2	chr8:100666079..100668727-chr8:100674262..100677111,3	K562	blood:
3	chr8:100651536..100655023-chr8:100656332..100658879,3	K562	blood:
4	chr8:100684752..100688418-chr8:100691924..100694879,3	K562	blood:
5	chr8:100588643..100590809-chr8:100667230..100669836,2	MCF-7	breast:
6	chr8:100666079..100668727-chr8:100674262..100677111,3	K562	blood:
7	chr8:100683905..100686290-chr8:100687390..100689544,2	MCF-7	breast:
8	chr8:100662125..100664863-chr8:100667158..100669715,2	MCF-7	breast:
9	chr17:50389276..50390105-chr8:100654719..100655443,2	MCF-7	breast:
10	chr8:100629647..100631528-chr8:100671490..100673021,2	K562	blood:
11	chr8:100652613..100655160-chr8:100773640..100775434,2	K562	blood:
12	chr8:100651536..100655023-chr8:100656332..100658879,3	K562	blood:
13	chr8:100684752..100688418-chr8:100691924..100694879,3	K562	blood:
14	chr8:100662125..100664863-chr8:100667158..100669715,2	MCF-7	breast:

No data

Extended variants
information (count: 1364 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1364 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1386375	chr8:100650034-100650035	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370447115	chr8:100650041-100650042	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs150610506	chr8:100650073-100650074	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs577449647	chr8:100650082-100650083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs117796735	chr8:100650192-100650193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1386374	chr8:100650223-100650224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192805246	chr8:100650226-100650227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542303190	chr8:100650254-100650255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562166736	chr8:100650260-100650261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575679923	chr8:100650298-100650299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368608736	chr8:100650335-100650336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183945763	chr8:100650351-100650352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75395933	chr8:100650367-100650368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186847502	chr8:100650407-100650408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569418705	chr8:100650510-100650511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77530000	chr8:100650534-100650535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546620025	chr8:100650540-100650541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560253389	chr8:100650578-100650579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529060646	chr8:100650639-100650640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556172527	chr8:100650644-100650645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140027817	chr8:100650745-100650746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568628724	chr8:100650761-100650762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571476390	chr8:100650765-100650766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537586156	chr8:100650777-100650778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375594708	chr8:100650890-100650891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191681010	chr8:100650892-100650893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571199050	chr8:100650898-100650899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540114577	chr8:100650905-100650906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538556682	chr8:100650927-100650928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16897526	chr8:100650972-100650973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs371710043	chr8:100651044-100651045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570518171	chr8:100651047-100651048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184249171	chr8:100651091-100651092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372418617	chr8:100651138-100651139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190310837	chr8:100651142-100651143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575788908	chr8:100651162-100651163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544764328	chr8:100651173-100651174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143894332	chr8:100651190-100651191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577968356	chr8:100651193-100651194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182043784	chr8:100651201-100651202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535716392	chr8:100651243-100651244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529022881	chr8:100651248-100651249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16897527	chr8:100651287-100651288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562369550	chr8:100651331-100651332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368913520	chr8:100651360-100651361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372655183	chr8:100651425-100651426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531300514	chr8:100651428-100651429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370004512	chr8:100651439-100651440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575385440	chr8:100651466-100651467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375348606	chr8:100651484-100651485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
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
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
Multiple myeloma	16461302	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
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
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100622200-100655400	Weak transcription	Primary B cells from cord blood	blood
2	chr8:100631600-100654400	Weak transcription	Left Ventricle	heart
3	chr8:100631600-100658800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:100631600-100683800	Weak transcription	Aorta	Aorta
5	chr8:100632000-100654000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:100632200-100654200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:100637000-100654400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:100637800-100658600	Weak transcription	Psoas Muscle	Psoas
9	chr8:100643400-100676800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:100645800-100674800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:100646000-100657200	Weak transcription	Small Intestine	intestine
12	chr8:100646200-100661800	Weak transcription	Thymus	Thymus
13	chr8:100646600-100686400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:100646800-100674400	Weak transcription	Dnd41	blood
15	chr8:100647000-100650800	Enhancers	Fetal Intestine Large	intestine
16	chr8:100647000-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:100647000-100667200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:100647000-100667800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:100647200-100651400	Enhancers	Fetal Intestine Small	intestine
20	chr8:100647200-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:100647400-100667200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:100648000-100650200	Enhancers	Fetal Lung	lung
23	chr8:100648000-100650200	Enhancers	HUVEC	blood vessel
24	chr8:100648000-100650400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:100648200-100650400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:100648200-100651400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:100648400-100675600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:100648600-100650400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr8:100648800-100650200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:100648800-100650600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:100648800-100651400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:100649000-100650200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:100649000-100650200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:100649000-100650200	Enhancers	Duodenum Mucosa	Duodenum
35	chr8:100649000-100650200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:100649200-100650200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:100649200-100650200	Flanking Active TSS	K562	blood
38	chr8:100649200-100650800	Enhancers	HepG2	liver
39	chr8:100649400-100650200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr8:100649600-100650200	Enhancers	Primary T cells from cord blood	blood
41	chr8:100649600-100650400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr8:100649800-100650200	Flanking Active TSS	Fetal Heart	heart
43	chr8:100650000-100654000	Weak transcription	Fetal Stomach	stomach
44	chr8:100650000-100654200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:100650000-100654200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:100650000-100654400	Weak transcription	Fetal Kidney	kidney
47	chr8:100650000-100654400	Weak transcription	Spleen	Spleen
48	chr8:100650000-100654600	Weak transcription	HSMMtube	muscle
49	chr8:100650000-100657200	Weak transcription	Adipose Nuclei	Adipose
50	chr8:100650000-100657800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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