Variant report

Variant	esv3439396
Chromosome Location	chr10:21718171-21720719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:21712918..21715282-chr10:21717916..21720216,2	K562	blood:
2	chr10:21682158..21684428-chr10:21719134..21720875,2	K562	blood:
3	chr10:21719925..21723047-chr10:21821739..21824712,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078403	chromatin interactions
ENSG00000231553	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 35 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199921053	chr10:21718174-21718175	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs543593784	chr10:21718192-21718193	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563854757	chr10:21718233-21718234	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs35535945	chr10:21718234-21718235	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574245596	chr10:21718267-21718268	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs148530217	chr10:21718343-21718344	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs561679555	chr10:21718405-21718406	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs181191914	chr10:21718430-21718431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs141961273	chr10:21718437-21718438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546465534	chr10:21718461-21718462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs564154276	chr10:21718524-21718525	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs186751741	chr10:21718560-21718561	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs566165357	chr10:21718591-21718592	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372013834	chr10:21718606-21718607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368955339	chr10:21718639-21718640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569870010	chr10:21718719-21718720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs35297193	chr10:21718721-21718722	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549110265	chr10:21718734-21718735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs147296522	chr10:21718762-21718763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs191541110	chr10:21718837-21718838	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534685958	chr10:21718845-21718846	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181464026	chr10:21718869-21718870	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11012697	chr10:21718890-21718891	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114579689	chr10:21718911-21718912	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557495129	chr10:21718926-21718927	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536577670	chr10:21718940-21718941	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77034070	chr10:21718964-21718965	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543355209	chr10:21718975-21718976	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553381901	chr10:21719045-21719046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60154088	chr10:21719049-21719050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534341985	chr10:21719057-21719058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78942955	chr10:21719079-21719080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79525086	chr10:21719081-21719082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60756548	chr10:21719085-21719086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73592549	chr10:21719126-21719127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111637695	chr10:21719155-21719156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372101448	chr10:21719174-21719175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141030599	chr10:21719178-21719179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369117969	chr10:21719194-21719195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554899993	chr10:21719195-21719196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533027502	chr10:21719202-21719203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554108236	chr10:21719207-21719208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531050073	chr10:21719222-21719223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563449384	chr10:21719256-21719257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529073332	chr10:21719257-21719258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549296919	chr10:21719362-21719363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112313402	chr10:21719480-21719481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567201048	chr10:21719549-21719550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560562436	chr10:21719667-21719668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373758461	chr10:21719834-21719835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:35)

Disease	PMID	Source
Breast cancer	17133270	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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21715600-21719000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:21717200-21718800	Weak transcription	A549	lung
3	chr10:21717200-21720800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:21717200-21721000	Weak transcription	NHEK	skin
5	chr10:21717200-21721400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:21717400-21720800	Weak transcription	HMEC	breast
7	chr10:21717400-21721600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:21718800-21719000	Enhancers	A549	lung
9	chr10:21718800-21721200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:21719000-21721200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:21720200-21722400	Enhancers	Placenta	Placenta
12	chr10:21720400-21721000	Bivalent Enhancer	HepG2	liver
13	chr10:21720600-21722200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:21720600-21722200	Enhancers	Placenta Amnion	Placenta Amnion

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