Variant report

Variant	nsv6199
Chromosome Location	chr10:28555515-28563204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:28558708..28561649-chr10:28562731..28565545,2	MCF-7	breast:
2	chr10:28554627..28557349-chr10:28572149..28574726,2	MCF-7	breast:
3	chr10:28550629..28558294-chr10:28588558..28593348,8	MCF-7	breast:
4	chr10:28554682..28556486-chr10:28574647..28577127,2	MCF-7	breast:
5	chr10:28555334..28557134-chr10:28559032..28561052,2	K562	blood:
6	chr10:28558711..28561125-chr10:28592241..28593804,2	MCF-7	breast:
7	chr10:28558708..28561649-chr10:28562731..28565545,2	MCF-7	breast:
8	chr10:28555334..28557134-chr10:28559032..28561052,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000150054	chromatin interactions

Extended variants
information (count: 309 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573085072	chr10:28555515-28555516	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375223696	chr10:28555568-28555569	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567333306	chr10:28555597-28555598	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12358648	chr10:28555677-28555678	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs117891397	chr10:28555691-28555692	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372639293	chr10:28555704-28555705	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185415920	chr10:28555786-28555787	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545110679	chr10:28555827-28555828	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143151398	chr10:28555857-28555858	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558743023	chr10:28555858-28555859	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191294776	chr10:28555860-28555861	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527640151	chr10:28555950-28555951	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570039093	chr10:28555955-28555956	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538838844	chr10:28555982-28555983	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182648976	chr10:28555992-28555993	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185889869	chr10:28556010-28556011	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150726829	chr10:28556085-28556086	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs3847383	chr10:28556086-28556087	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs571655045	chr10:28556097-28556098	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191986627	chr10:28556113-28556114	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547735368	chr10:28556115-28556116	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577661032	chr10:28556122-28556123	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11006971	chr10:28556142-28556143	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543057782	chr10:28556175-28556176	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533529463	chr10:28556222-28556223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75477817	chr10:28556257-28556258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs74129035	chr10:28556308-28556309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12253385	chr10:28556355-28556356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556383180	chr10:28556363-28556364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77320852	chr10:28556418-28556419	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11006972	chr10:28556451-28556452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs545290931	chr10:28556493-28556494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10763655	chr10:28556495-28556496	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs572420059	chr10:28556513-28556514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10826438	chr10:28556616-28556617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112729851	chr10:28556667-28556668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561074556	chr10:28556669-28556670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531688977	chr10:28556690-28556691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183328582	chr10:28556730-28556731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562756786	chr10:28556758-28556759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565146785	chr10:28556821-28556822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532552491	chr10:28556830-28556831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10826439	chr10:28556888-28556889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544873649	chr10:28556889-28556890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566210944	chr10:28556926-28556927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565094639	chr10:28556936-28556937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs527320137	chr10:28556944-28556945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369571054	chr10:28556947-28556948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374163297	chr10:28556958-28556959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548710680	chr10:28556976-28556977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28544000-28555600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:28550400-28555600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:28550400-28582600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr10:28550600-28562400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr10:28550600-28562600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr10:28550600-28563600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr10:28550800-28555600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr10:28550800-28555600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:28551400-28563600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr10:28552400-28557800	Weak transcription	Fetal Intestine Small	intestine
11	chr10:28552800-28555600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:28552800-28558200	Weak transcription	NHEK	skin
13	chr10:28552800-28559000	Weak transcription	Aorta	Aorta
14	chr10:28553000-28559200	Weak transcription	Fetal Stomach	stomach
15	chr10:28553000-28570800	Weak transcription	Esophagus	oesophagus
16	chr10:28553200-28557800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:28553200-28568400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr10:28553400-28569600	Weak transcription	Pancreas	Pancrea
19	chr10:28553600-28558200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr10:28553800-28563400	Weak transcription	HepG2	liver
21	chr10:28554000-28556000	Enhancers	Primary B cells from peripheral blood	blood
22	chr10:28554200-28557600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr10:28555200-28555600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr10:28555200-28556000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:28555200-28556000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:28555400-28556200	Enhancers	Primary T cells from cord blood	blood
27	chr10:28555400-28556200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr10:28555600-28556000	Enhancers	Primary hematopoietic stem cells	blood
29	chr10:28555600-28556000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr10:28555600-28556000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr10:28555600-28556200	Enhancers	Primary B cells from cord blood	blood
32	chr10:28555600-28556200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr10:28555600-28556400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr10:28555600-28556400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:28555800-28556000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr10:28556000-28562200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr10:28556000-28563400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr10:28556200-28557800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr10:28556200-28563400	Weak transcription	Primary T cells from cord blood	blood
40	chr10:28556200-28563400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr10:28556200-28570800	Weak transcription	Primary B cells from cord blood	blood
42	chr10:28556400-28563800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:28556400-28571000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:28557600-28567800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr10:28557800-28568000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr10:28558200-28559200	Enhancers	NHEK	skin
47	chr10:28558200-28568200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr10:28558800-28560400	Enhancers	Fetal Heart	heart
49	chr10:28559000-28559200	Enhancers	Aorta	Aorta
50	chr10:28559000-28559400	Enhancers	Placenta	Placenta

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