Variant report

Variant	esv3356055
Chromosome Location	chr10:600977-603525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:589190..591988-chr10:602233..604449,2	K562	blood:
2	chr10:603209..605062-chr10:710188..713086,2	MCF-7	breast:
3	chr10:596736..599613-chr10:602463..604723,2	MCF-7	breast:
4	chr10:596165..599651-chr10:599666..603906,4	MCF-7	breast:
5	chr10:599406..601960-chr10:605576..607787,2	MCF-7	breast:

Extended variants
information (count: 168 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61394717	chr10:600990-600991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566102391	chr10:600991-600992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565178678	chr10:600998-600999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12049717	chr10:601031-601032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs143035263	chr10:601042-601043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567903539	chr10:601045-601046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148188018	chr10:601069-601070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs816650	chr10:601089-601090	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs816651	chr10:601114-601115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs188092960	chr10:601115-601116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200032832	chr10:601141-601142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201160138	chr10:601142-601143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79332161	chr10:601143-601144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544322753	chr10:601149-601150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117271383	chr10:601191-601192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573854017	chr10:601200-601201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542764785	chr10:601259-601260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530003532	chr10:601303-601304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56257397	chr10:601309-601310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372268935	chr10:601323-601324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142282162	chr10:601335-601336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11253175	chr10:601336-601337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375455223	chr10:601345-601346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565006719	chr10:601353-601354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10904498	chr10:601355-601356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374826182	chr10:601358-601359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566651428	chr10:601388-601389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538976173	chr10:601419-601420	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs367842435	chr10:601442-601443	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs372043002	chr10:601453-601454	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs546763642	chr10:601464-601465	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs566704964	chr10:601479-601480	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs146391266	chr10:601499-601500	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs558618601	chr10:601509-601510	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs558773108	chr10:601540-601541	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs114392880	chr10:601544-601545	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs538190310	chr10:601562-601563	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs569104540	chr10:601564-601565	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs573841800	chr10:601575-601576	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs542962147	chr10:601582-601583	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs367693799	chr10:601640-601641	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs559711159	chr10:601644-601645	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs538061704	chr10:601659-601660	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs573059634	chr10:601664-601665	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs182420802	chr10:601755-601756	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs187044748	chr10:601756-601757	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs530531341	chr10:601766-601767	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs536442429	chr10:601770-601771	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs7093951	chr10:601771-601772	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191965789	chr10:601775-601776	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:583200-604800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr10:593600-602800	Weak transcription	Fetal Intestine Small	intestine
3	chr10:593600-605000	Weak transcription	NH-A	brain
4	chr10:594000-601400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:594000-601800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:594000-604000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr10:594200-602800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:594200-604000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:594600-601600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:594600-604000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:594600-604000	Weak transcription	Brain Germinal Matrix	brain
12	chr10:595200-602800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr10:595400-601400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:595400-602600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:595600-601600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:597800-602400	Weak transcription	Brain Substantia Nigra	brain
17	chr10:598000-601600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:598000-601600	Weak transcription	Fetal Stomach	stomach
19	chr10:598000-601600	Weak transcription	Right Atrium	heart
20	chr10:598000-601800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr10:598000-607400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr10:598200-604000	Weak transcription	Fetal Kidney	kidney
23	chr10:598200-605600	Weak transcription	Fetal Lung	lung
24	chr10:598400-601200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr10:598400-601400	Weak transcription	Brain Angular Gyrus	brain
26	chr10:598400-602400	Weak transcription	Brain Anterior Caudate	brain
27	chr10:598400-602600	Weak transcription	Fetal Brain Female	brain
28	chr10:599000-602600	Weak transcription	Brain Hippocampus Middle	brain
29	chr10:599000-602800	Weak transcription	Fetal Brain Male	brain
30	chr10:599200-602400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr10:599200-602800	Weak transcription	Ovary	ovary
32	chr10:599400-604000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:599400-604200	Weak transcription	Esophagus	oesophagus
34	chr10:599600-601400	Enhancers	HUVEC	blood vessel
35	chr10:599800-602400	Weak transcription	Colon Smooth Muscle	Colon
36	chr10:599800-602400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:600000-601000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:600000-602400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr10:600200-605200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:600400-601000	Enhancers	Fetal Muscle Leg	muscle
41	chr10:600400-601000	Enhancers	Psoas Muscle	Psoas
42	chr10:600400-601600	Enhancers	Lung	lung
43	chr10:600400-601800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:600400-602800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr10:600400-603000	Enhancers	Spleen	Spleen
46	chr10:600400-603200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr10:600400-608000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:600600-601600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr10:600600-602400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:600600-602800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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