Variant report

Variant	esv3407243
Chromosome Location	chr10:97061412-97063885
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:97055747..97058721-chr10:97058965..97061918,2	MCF-7	breast:
2	chr10:97063446..97065566-chr10:97068136..97069871,2	K562	blood:
3	chr10:97063446..97065363-chr10:97067014..97069636,2	K562	blood:
4	chr10:97057079..97058801-chr10:97061706..97063249,2	K562	blood:
5	chr10:97049641..97053849-chr10:97062543..97067097,4	K562	blood:
6	chr10:97058437..97060123-chr10:97062143..97063800,2	K562	blood:
7	chr10:97054091..97056343-chr10:97062077..97064550,2	K562	blood:
8	chr10:97049641..97052402-chr10:97061641..97064043,3	K562	blood:
9	chr10:97063353..97065156-chr10:97068953..97071321,2	MCF-7	breast:
10	chr10:97047645..97051954-chr10:97061072..97065962,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000107438	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559943319	chr10:97061479-97061480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529074230	chr10:97061491-97061492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531862325	chr10:97061492-97061493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs57382590	chr10:97061509-97061510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548732887	chr10:97061523-97061524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117441251	chr10:97061566-97061567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531588554	chr10:97061576-97061577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551138768	chr10:97061671-97061672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140221045	chr10:97061680-97061681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189072874	chr10:97061686-97061687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181546162	chr10:97061793-97061794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184841753	chr10:97061796-97061797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372709732	chr10:97061809-97061810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111642921	chr10:97061822-97061823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555947082	chr10:97061889-97061890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575892094	chr10:97061911-97061912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548144028	chr10:97061912-97061913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35302231	chr10:97061943-97061944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs202045649	chr10:97061955-97061956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs56010727	chr10:97061959-97061960	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570311707	chr10:97061963-97061964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557898996	chr10:97061968-97061969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530358113	chr10:97061978-97061979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190472500	chr10:97062050-97062051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540205597	chr10:97062069-97062070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560229013	chr10:97062107-97062108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529307563	chr10:97062128-97062129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141591462	chr10:97062131-97062132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs55645193	chr10:97062144-97062145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542416489	chr10:97062168-97062169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561658596	chr10:97062198-97062199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs137976137	chr10:97062209-97062210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201080712	chr10:97062215-97062216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199649494	chr10:97062222-97062223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149495299	chr10:97062267-97062268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568499582	chr10:97062376-97062377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551640052	chr10:97062389-97062390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375662841	chr10:97062396-97062397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs180868287	chr10:97062399-97062400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200778594	chr10:97062410-97062411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201059034	chr10:97062415-97062416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543243763	chr10:97062418-97062419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11188268	chr10:97062420-97062421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11188269	chr10:97062422-97062423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571185154	chr10:97062438-97062439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12259883	chr10:97062457-97062458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547385984	chr10:97062504-97062505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551834431	chr10:97062507-97062508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567369420	chr10:97062535-97062536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191234829	chr10:97062570-97062571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Prostate cancer	16573809	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	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
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97055600-97063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:97055600-97072800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:97055800-97063200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:97055800-97063200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:97055800-97063200	Weak transcription	Lung	lung
6	chr10:97055800-97063400	Weak transcription	NHEK	skin
7	chr10:97055800-97063800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:97055800-97067600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:97057600-97064000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:97057600-97070200	Weak transcription	Spleen	Spleen
11	chr10:97057800-97063200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr10:97057800-97063200	Weak transcription	Left Ventricle	heart
13	chr10:97057800-97063400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:97057800-97063400	Weak transcription	Right Atrium	heart
15	chr10:97057800-97064600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:97058000-97068200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr10:97058200-97067600	Weak transcription	GM12878-XiMat	blood
18	chr10:97058400-97063200	Weak transcription	K562	blood
19	chr10:97060400-97062800	Weak transcription	Fetal Heart	heart
20	chr10:97060400-97063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:97060600-97063400	Weak transcription	Gastric	stomach
22	chr10:97060800-97063200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:97062800-97066400	Enhancers	Fetal Heart	heart
24	chr10:97063000-97063400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr10:97063000-97065200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr10:97063200-97063400	Enhancers	Fetal Brain Female	brain
27	chr10:97063200-97063600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:97063200-97063600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:97063200-97063600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:97063200-97063600	Enhancers	Lung	lung
31	chr10:97063200-97063600	Enhancers	Pancreas	Pancrea
32	chr10:97063200-97064000	Flanking Active TSS	K562	blood
33	chr10:97063200-97064000	Enhancers	NH-A	brain
34	chr10:97063200-97064200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:97063200-97064200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:97063200-97064400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:97063200-97064800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:97063200-97064800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr10:97063200-97064800	Enhancers	Left Ventricle	heart
40	chr10:97063200-97065400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr10:97063400-97064000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr10:97063400-97064000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr10:97063400-97064000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:97063400-97064000	Enhancers	Right Atrium	heart
45	chr10:97063400-97064000	Enhancers	HMEC	breast
46	chr10:97063400-97064000	Enhancers	NHEK	skin
47	chr10:97063400-97064600	Enhancers	Fetal Intestine Small	intestine
48	chr10:97063400-97064800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr10:97063400-97064800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:97063400-97064800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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