Variant report

Variant	esv3422724
Chromosome Location	chr10:98558962-98563560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:98553768..98555619-chr10:98557263..98560148,2	K562	blood:
2	chr10:98557607..98559906-chr10:98561974..98564519,2	K562	blood:
3	chr10:98558078..98559906-chr10:98563019..98564889,2	K562	blood:
4	chr10:98557607..98559906-chr10:98561974..98564519,2	K562	blood:
5	chr10:98558078..98559906-chr10:98563019..98564889,2	K562	blood:

Extended variants
information (count: 393 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570187345	chr10:98558976-98558977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551177631	chr10:98558977-98558978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537739309	chr10:98558990-98558991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7090880	chr10:98559018-98559019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373181106	chr10:98559038-98559039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180711880	chr10:98559094-98559095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144816756	chr10:98559146-98559147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138662368	chr10:98559149-98559150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200551359	chr10:98559168-98559169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199519937	chr10:98559170-98559171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552639025	chr10:98559196-98559197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564297779	chr10:98559206-98559207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185713615	chr10:98559219-98559220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190130664	chr10:98559221-98559222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561922666	chr10:98559281-98559282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183090447	chr10:98559302-98559303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541408237	chr10:98559343-98559344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559811531	chr10:98559344-98559345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533447750	chr10:98559345-98559346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551621534	chr10:98559374-98559375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111852586	chr10:98559379-98559380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570226049	chr10:98559398-98559399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186034640	chr10:98559485-98559486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549183459	chr10:98559512-98559513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199766951	chr10:98559526-98559527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567594574	chr10:98559536-98559537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535015981	chr10:98559544-98559545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113478172	chr10:98559545-98559546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115008476	chr10:98559590-98559591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539518278	chr10:98559613-98559614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192057367	chr10:98559615-98559616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576094937	chr10:98559661-98559662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543605459	chr10:98559686-98559687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184041445	chr10:98559689-98559690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555620274	chr10:98559703-98559704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573960987	chr10:98559704-98559705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556617942	chr10:98559767-98559768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577955086	chr10:98559771-98559772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187752876	chr10:98559799-98559800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191074166	chr10:98559842-98559843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533217126	chr10:98559850-98559851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182060810	chr10:98559862-98559863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs137890574	chr10:98559887-98559888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6584100	chr10:98559942-98559943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs386746812	chr10:98560036-98560037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7095646	chr10:98560037-98560038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187061660	chr10:98560045-98560046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141198905	chr10:98560047-98560048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571913342	chr10:98560067-98560068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191604593	chr10:98560115-98560116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98546000-98561200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:98550800-98561200	Weak transcription	Primary B cells from cord blood	blood
3	chr10:98554200-98561200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:98554800-98561200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr10:98555000-98561200	Weak transcription	Hela-S3	cervix
6	chr10:98555000-98561200	Weak transcription	Osteobl	bone
7	chr10:98555200-98559600	Weak transcription	Adipose Nuclei	Adipose
8	chr10:98555200-98561200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:98555200-98561200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:98555400-98559200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr10:98555400-98560400	Enhancers	Fetal Intestine Small	intestine
12	chr10:98555400-98560600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr10:98555400-98560800	Enhancers	Fetal Intestine Large	intestine
14	chr10:98555400-98561200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:98557200-98560200	Enhancers	HepG2	liver
16	chr10:98557600-98560200	Enhancers	Duodenum Mucosa	Duodenum
17	chr10:98557800-98561200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:98558400-98560200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr10:98558600-98560800	Enhancers	Placenta	Placenta
20	chr10:98558800-98559200	Enhancers	Colonic Mucosa	Colon
21	chr10:98558800-98560000	Weak transcription	Fetal Kidney	kidney
22	chr10:98558800-98560800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:98558800-98561200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:98558800-98561200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:98558800-98561200	Weak transcription	Stomach Mucosa	stomach
26	chr10:98559200-98561200	Weak transcription	Colonic Mucosa	Colon
27	chr10:98559200-98561200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr10:98560000-98561200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr10:98560200-98561200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr10:98560200-98561200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:98560600-98561200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr10:98560600-98561200	Weak transcription	Pancreas	Pancrea
33	chr10:98560800-98561200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr10:98560800-98561200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr10:98560800-98561200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:98560800-98561200	Weak transcription	Fetal Intestine Large	intestine
37	chr10:98560800-98561200	Weak transcription	Placenta	Placenta
38	chr10:98561200-98561400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr10:98561200-98561400	Bivalent Enhancer	HepG2	liver
40	chr10:98561200-98561600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr10:98561200-98561600	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
42	chr10:98561200-98561600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr10:98561200-98561600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr10:98561200-98561600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr10:98561200-98561600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:98561200-98561600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:98561200-98561600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr10:98561200-98561600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:98561200-98561600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:98561200-98561600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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