Variant report

Variant	esv3423741
Chromosome Location	chr10:1642952-1647150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1643971..1645583-chr10:1650285..1653262,2	K562	blood:
2	chr10:1637263..1639781-chr10:1644116..1647024,2	K562	blood:
3	chr10:1636416..1638763-chr10:1644116..1645883,2	K562	blood:

Extended variants
information (count: 238 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544697943	chr10:1642964-1642965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2813400	chr10:1642998-1642999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530335960	chr10:1643003-1643004	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs77177383	chr10:1643006-1643007	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs371031058	chr10:1643033-1643034	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs560843033	chr10:1643035-1643036	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs532664485	chr10:1643079-1643080	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs145350098	chr10:1643104-1643105	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs2676742	chr10:1643113-1643114	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs184042728	chr10:1643162-1643163	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs547895791	chr10:1643185-1643186	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs78914597	chr10:1643218-1643219	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs186900101	chr10:1643219-1643220	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs529994543	chr10:1643221-1643222	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs191393005	chr10:1643228-1643229	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs76884239	chr10:1643265-1643266	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs577107288	chr10:1643286-1643287	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs142391058	chr10:1643303-1643304	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs376051889	chr10:1643316-1643317	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs35834200	chr10:1643331-1643332	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4497332	chr10:1643340-1643341	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561446719	chr10:1643344-1643345	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs138878056	chr10:1643345-1643346	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs61834180	chr10:1643346-1643347	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs17156575	chr10:1643353-1643354	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7898120	chr10:1643368-1643369	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376559442	chr10:1643388-1643389	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs2813401	chr10:1643393-1643394	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs552472634	chr10:1643401-1643402	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs369583313	chr10:1643405-1643406	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs562806708	chr10:1643415-1643416	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs369519564	chr10:1643438-1643439	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs183569705	chr10:1643462-1643463	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs116693073	chr10:1643467-1643468	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs143783366	chr10:1643477-1643478	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs568524505	chr10:1643493-1643494	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs34420802	chr10:1643520-1643521	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569259386	chr10:1643529-1643530	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs148164559	chr10:1643530-1643531	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs4293060	chr10:1643560-1643561	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576367135	chr10:1643599-1643600	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs574019921	chr10:1643600-1643601	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs112097406	chr10:1643612-1643613	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs11250658	chr10:1643672-1643673	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554663381	chr10:1643677-1643678	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs145926951	chr10:1643681-1643682	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs35407795	chr10:1643702-1643703	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs190537975	chr10:1643703-1643704	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs138534929	chr10:1643707-1643708	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs573381272	chr10:1643746-1643747	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1634600-1648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:1637600-1643800	Weak transcription	Fetal Brain Male	brain
3	chr10:1639800-1643600	Weak transcription	Fetal Brain Female	brain
4	chr10:1642200-1643200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr10:1642200-1643200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:1642400-1643000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:1642400-1644000	Enhancers	Dnd41	blood
8	chr10:1642600-1643200	Enhancers	NHEK	skin
9	chr10:1643000-1643200	Enhancers	Esophagus	oesophagus
10	chr10:1643000-1643400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:1643000-1643400	Enhancers	Brain Substantia Nigra	brain
12	chr10:1643000-1643600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:1643000-1645000	Bivalent Enhancer	Fetal Lung	lung
14	chr10:1643200-1643600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr10:1643200-1643800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:1643200-1644000	Flanking Active TSS	NHEK	skin
17	chr10:1643200-1644200	Enhancers	Fetal Stomach	stomach
18	chr10:1643200-1645200	Weak transcription	Esophagus	oesophagus
19	chr10:1643400-1643600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:1643400-1643800	Enhancers	GM12878-XiMat	blood
21	chr10:1643400-1643800	Enhancers	HMEC	breast
22	chr10:1643400-1644000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr10:1643400-1644600	Enhancers	Fetal Thymus	thymus
24	chr10:1643600-1643800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr10:1643600-1644000	Enhancers	Fetal Brain Female	brain
26	chr10:1643600-1644200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:1643800-1644000	Enhancers	Fetal Brain Male	brain
28	chr10:1643800-1644600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr10:1643800-1644600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:1644000-1644200	Enhancers	NHEK	skin
31	chr10:1644000-1644800	Weak transcription	Fetal Brain Male	brain
32	chr10:1644200-1644400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr10:1644200-1644800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr10:1644600-1648600	Weak transcription	Fetal Thymus	thymus
35	chr10:1644800-1645000	Genic enhancers	H9 Cell Line	embryonic stem cell
36	chr10:1644800-1645000	Active TSS	Fetal Brain Male	brain
37	chr10:1644800-1645200	Bivalent/Poised TSS	Fetal Kidney	kidney
38	chr10:1644800-1645200	Active TSS	NHDF-Ad	bronchial
39	chr10:1645000-1645200	Bivalent Enhancer	Fetal Brain Male	brain
40	chr10:1645000-1645400	Bivalent/Poised TSS	Fetal Lung	lung
41	chr10:1645000-1648400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr10:1645200-1645400	Enhancers	Esophagus	oesophagus

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