Variant report

Variant	esv3329479
Chromosome Location	chr10:93651472-93653420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93651466..93653343-chr10:93668717..93670774,2	K562	blood:
2	chr10:93648930..93651665-chr10:93666944..93669498,2	MCF-7	breast:
3	chr10:93649585..93651720-chr10:93654975..93657870,2	MCF-7	breast:
4	chr10:93652857..93654419-chr10:93654584..93656097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174721	chromatin interactions
ENSG00000272817	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570941178	chr10:93651475-93651476	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533530774	chr10:93651536-93651537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553317557	chr10:93651537-93651538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564995579	chr10:93651545-93651546	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs149182059	chr10:93651573-93651574	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530696299	chr10:93651614-93651615	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186958797	chr10:93651626-93651627	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs6583792	chr10:93651632-93651633	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs569201424	chr10:93651636-93651637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376065853	chr10:93651643-93651644	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548368166	chr10:93651726-93651727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576571144	chr10:93651796-93651797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545422577	chr10:93651909-93651910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190152424	chr10:93651918-93651919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74423597	chr10:93651932-93651933	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541449098	chr10:93651933-93651934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75439795	chr10:93651968-93651969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143094665	chr10:93652015-93652016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550207440	chr10:93652017-93652018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182327886	chr10:93652070-93652071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531512656	chr10:93652138-93652139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186528782	chr10:93652139-93652140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536652819	chr10:93652168-93652169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533809344	chr10:93652176-93652177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554626963	chr10:93652186-93652187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373119630	chr10:93652206-93652207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201445223	chr10:93652207-93652208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372101969	chr10:93652210-93652211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112712956	chr10:93652211-93652212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376784699	chr10:93652231-93652232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200145315	chr10:93652233-93652234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs7894752	chr10:93652234-93652235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150107119	chr10:93652235-93652236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71479095	chr10:93652236-93652237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs58345532	chr10:93652237-93652238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201032344	chr10:93652247-93652248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11186732	chr10:93652250-93652251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374431357	chr10:93652258-93652259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570316280	chr10:93652275-93652276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368811715	chr10:93652303-93652304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146933515	chr10:93652353-93652354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576586968	chr10:93652355-93652356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539204797	chr10:93652381-93652382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549390005	chr10:93652386-93652387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559158053	chr10:93652387-93652388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572795303	chr10:93652415-93652416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369273563	chr10:93652416-93652417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575636902	chr10:93652427-93652428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs202039745	chr10:93652428-93652429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10786022	chr10:93652429-93652430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance

Variant related diseases (count:68)

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
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	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
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93647400-93667800	Weak transcription	Spleen	Spleen
2	chr10:93647600-93651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:93649800-93652200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr10:93649800-93656200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:93650000-93651600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr10:93650200-93652200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:93650200-93653400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:93650400-93652000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:93650400-93652000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:93650400-93652000	Enhancers	Hela-S3	cervix
11	chr10:93650400-93652000	Enhancers	HepG2	liver
12	chr10:93650400-93652000	Enhancers	NHDF-Ad	bronchial
13	chr10:93650400-93652200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:93650600-93651800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:93650600-93651800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:93650600-93651800	Enhancers	HUVEC	blood vessel
17	chr10:93650600-93652000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:93650600-93652000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr10:93650600-93652000	Enhancers	A549	lung
20	chr10:93650800-93652000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:93651000-93651600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:93651200-93652000	Enhancers	NHLF	lung
23	chr10:93651400-93651800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:93651400-93651800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:93651400-93652000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr10:93651600-93651800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr10:93651600-93651800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr10:93651600-93651800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr10:93651600-93652000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:93651800-93652000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:93651800-93652800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:93652000-93652800	Weak transcription	A549	lung
33	chr10:93652200-93652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:93652200-93658000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:93652800-93653000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:93652800-93653000	Enhancers	A549	lung
37	chr10:93652800-93653200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:93653400-93654000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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