Variant report

Variant	nsv550227
Chromosome Location	chr10:25843019-25865744
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:25843047..25844904-chr10:25848062..25851001,2	K562	blood:
2	chr10:25835478..25839771-chr10:25841392..25844555,4	K562	blood:
3	chr10:25843047..25844904-chr10:25848062..25851001,2	K562	blood:
4	chr10:25821157..25824087-chr10:25844116..25846156,2	K562	blood:
5	chr10:25823065..25825573-chr10:25861893..25863444,2	K562	blood:
6	chr10:25853863..25855437-chr10:25858792..25860458,2	K562	blood:
7	chr10:25844764..25845310-chr10:25927517..25928042,2	MCF-7	breast:
8	chr10:25833305..25835212-chr10:25841456..25843498,2	K562	blood:
9	chr10:25853863..25855437-chr10:25858792..25860458,2	K562	blood:
10	chr10:25833305..25835524-chr10:25841251..25843498,2	K562	blood:
11	chr10:25836858..25839438-chr10:25841392..25844973,3	K562	blood:

No data

Extended variants
information (count: 911 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:911 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7083288	chr10:25843019-25843020	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10828822	chr10:25843033-25843034	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544846079	chr10:25843034-25843035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554875868	chr10:25843157-25843158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575129272	chr10:25843195-25843196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540828319	chr10:25843209-25843210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16926083	chr10:25843236-25843237	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10828823	chr10:25843263-25843264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184264313	chr10:25843267-25843268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562476821	chr10:25843296-25843297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375918378	chr10:25843298-25843299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149479610	chr10:25843314-25843315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143974047	chr10:25843315-25843316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7084676	chr10:25843360-25843361	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs78219905	chr10:25843406-25843407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188273363	chr10:25843410-25843411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79123698	chr10:25843444-25843445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148610858	chr10:25843465-25843466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10828824	chr10:25843476-25843477	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373333785	chr10:25843573-25843574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367705633	chr10:25843594-25843595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112816485	chr10:25843625-25843626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575164346	chr10:25843669-25843670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143122622	chr10:25843677-25843678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554373331	chr10:25843681-25843682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146670534	chr10:25843704-25843705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545835043	chr10:25843707-25843708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139382104	chr10:25843793-25843794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576027513	chr10:25843845-25843846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532899483	chr10:25843852-25843853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117712295	chr10:25843861-25843862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10764559	chr10:25843893-25843894	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs376564799	chr10:25843907-25843908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547202506	chr10:25843959-25843960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377447997	chr10:25843964-25843965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184587962	chr10:25843965-25843966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200337076	chr10:25843987-25843988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370008180	chr10:25843988-25843989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532510849	chr10:25843995-25843996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372890151	chr10:25844001-25844002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552683193	chr10:25844027-25844028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117374400	chr10:25844067-25844068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189350308	chr10:25844082-25844083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553788468	chr10:25844090-25844091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567252197	chr10:25844094-25844095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12770279	chr10:25844126-25844127	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7901206	chr10:25844131-25844132	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140852721	chr10:25844144-25844145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150219070	chr10:25844150-25844151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181468004	chr10:25844157-25844158	Enhancers Weak transcription	n/a	n/a	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
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21525872	CNVD
Cancer	20164919	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25836800-25844800	Weak transcription	NH-A	brain
2	chr10:25839200-25843600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:25843000-25847200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr10:25843600-25846400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:25844200-25844600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:25844800-25846600	Enhancers	HUVEC	blood vessel
7	chr10:25844800-25846600	Enhancers	NH-A	brain
8	chr10:25845000-25845400	Enhancers	HMEC	breast
9	chr10:25845000-25845800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:25845000-25845800	Enhancers	K562	blood
11	chr10:25845000-25846400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:25845000-25846400	Enhancers	Fetal Stomach	stomach
13	chr10:25845000-25846600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:25845200-25845800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:25845200-25845800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:25847200-25847600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr10:25847200-25861200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr10:25850200-25851200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr10:25850400-25851000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:25850400-25851400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr10:25850600-25850800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr10:25850600-25851000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr10:25850600-25851200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr10:25850800-25853400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr10:25851000-25854400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr10:25851200-25854400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr10:25851200-25854400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr10:25851400-25853400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr10:25851600-25851800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
30	chr10:25853000-25853400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:25853400-25853600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr10:25853400-25853800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:25853400-25855400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr10:25853600-25854400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr10:25853800-25854800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:25854000-25854400	Enhancers	Fetal Stomach	stomach
37	chr10:25854200-25854800	Enhancers	K562	blood
38	chr10:25854400-25854600	Weak transcription	Fetal Stomach	stomach
39	chr10:25854400-25855000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr10:25854400-25855000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr10:25854400-25855000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr10:25854400-25855200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr10:25854600-25855000	Enhancers	Fetal Stomach	stomach
44	chr10:25854600-25855200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:25861200-25861600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:25861600-25873800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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