Variant report

Variant	esv1839881
Chromosome Location	chr10:91762226-91861413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91404738..91406321-chr10:91777135..91780059,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249962	chromatin interactions
ENSG00000232936	chromatin interactions
ENSG00000152782	chromatin interactions

Extended variants
information (count: 3845 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:3845 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2419344	chr10:91762226-91762227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35610724	chr10:91762247-91762248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141754535	chr10:91762259-91762260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150557408	chr10:91762295-91762296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182422605	chr10:91762321-91762322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186957946	chr10:91762417-91762418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570628514	chr10:91762466-91762467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78423851	chr10:91762475-91762476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192439399	chr10:91762479-91762480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566519481	chr10:91762486-91762487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535601835	chr10:91762508-91762509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542886273	chr10:91762515-91762516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555419816	chr10:91762536-91762537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537346288	chr10:91762571-91762572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575468363	chr10:91762573-91762574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182846470	chr10:91762575-91762576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2185925	chr10:91762580-91762581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555980728	chr10:91762632-91762633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374228704	chr10:91762735-91762736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188939157	chr10:91762824-91762825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12240622	chr10:91762826-91762827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74578649	chr10:91762841-91762842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559123251	chr10:91762850-91762851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528086912	chr10:91762851-91762852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112098875	chr10:91762897-91762898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111504689	chr10:91762972-91762973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561749816	chr10:91762975-91762976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4459201	chr10:91763049-91763050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184544711	chr10:91763099-91763100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375977918	chr10:91763118-91763119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144959276	chr10:91763142-91763143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367771884	chr10:91763181-91763182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115151575	chr10:91763207-91763208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34893368	chr10:91763281-91763282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528677995	chr10:91763283-91763284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200548925	chr10:91763284-91763285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146064507	chr10:91763320-91763321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574359405	chr10:91763354-91763355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10748533	chr10:91763487-91763488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10736052	chr10:91763513-91763514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149853055	chr10:91763521-91763522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11185955	chr10:91763522-91763523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538435646	chr10:91763523-91763524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10881730	chr10:91763554-91763555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs11185956	chr10:91763585-91763586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540614421	chr10:91763594-91763595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200742658	chr10:91763601-91763602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188959002	chr10:91763610-91763611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555239079	chr10:91763637-91763638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191831719	chr10:91763677-91763678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	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
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91760800-91766400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:91765000-91765200	Enhancers	Small Intestine	intestine
3	chr10:91766400-91766800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:91766400-91768400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:91766400-91768400	Enhancers	HMEC	breast
6	chr10:91766400-91768400	Enhancers	NHEK	skin
7	chr10:91766600-91768400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:91766800-91767800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:91767000-91767200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:91767000-91767800	Enhancers	NH-A	brain
11	chr10:91767000-91768000	Enhancers	Osteobl	bone
12	chr10:91767200-91770200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:91767800-91768400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:91768400-91770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:91768400-91770400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:91770400-91770600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:91770400-91770800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:91770400-91771200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr10:91770600-91771200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr10:91770600-91771200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr10:91770800-91771000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr10:91770800-91771000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr10:91770800-91771200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr10:91770800-91771200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr10:91770800-91810400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:91771000-91771200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr10:91771000-91771200	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr10:91775400-91776400	Enhancers	GM12878-XiMat	blood
29	chr10:91776400-91778200	Weak transcription	GM12878-XiMat	blood
30	chr10:91777000-91779200	Weak transcription	Primary B cells from cord blood	blood
31	chr10:91778200-91778400	Enhancers	GM12878-XiMat	blood
32	chr10:91778400-91778800	Active TSS	GM12878-XiMat	blood
33	chr10:91778800-91779000	Flanking Active TSS	GM12878-XiMat	blood
34	chr10:91779000-91779400	Enhancers	GM12878-XiMat	blood
35	chr10:91779200-91780000	Strong transcription	Primary B cells from cord blood	blood
36	chr10:91780000-91787400	Weak transcription	Primary B cells from cord blood	blood
37	chr10:91782600-91784200	Enhancers	Aorta	Aorta
38	chr10:91783000-91783200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:91783000-91783600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr10:91783200-91783400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr10:91783200-91783600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr10:91783400-91783800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:91783400-91784000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr10:91783800-91784000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:91784000-91784800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:91784200-91784800	Weak transcription	Aorta	Aorta
47	chr10:91784800-91785600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr10:91784800-91785600	Active TSS	Aorta	Aorta
49	chr10:91786600-91787400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:91787400-91788600	Enhancers	Primary B cells from cord blood	blood

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