Variant report

Variant	esv3336816
Chromosome Location	chr10:25786798-25787283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:25785235..25786972-chr10:25790311..25792044,2	K562	blood:
2	chr10:25784904..25787505-chr10:25794362..25797121,3	K562	blood:
3	chr10:25781802..25784732-chr10:25785039..25787910,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4749038	chr10:25786799-25786800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531146552	chr10:25786809-25786810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558468529	chr10:25786831-25786832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550855070	chr10:25786833-25786834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16925980	chr10:25786851-25786852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11014579	chr10:25786908-25786909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs553024443	chr10:25786921-25786922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373657126	chr10:25786965-25786966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560880517	chr10:25786970-25786971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574579630	chr10:25786971-25786972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147430831	chr10:25786998-25786999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75547204	chr10:25787023-25787024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543300785	chr10:25787094-25787095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544009921	chr10:25787107-25787108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189584075	chr10:25787132-25787133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114604469	chr10:25787189-25787190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370026085	chr10:25787209-25787210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115644348	chr10:25787219-25787220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533908607	chr10:25787248-25787249	Weak transcription Enhancers	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25781600-25788200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr10:25782200-25788200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:25782400-25792200	Weak transcription	Brain Anterior Caudate	brain
4	chr10:25783000-25788400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr10:25783200-25788400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:25783200-25788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:25783200-25797200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:25783600-25788200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr10:25784000-25788400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:25784200-25788600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:25785200-25787600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:25785600-25788000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:25785600-25788400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:25785800-25787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:25785800-25787000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr10:25785800-25788600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:25785800-25791200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:25786000-25786800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:25786000-25787600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:25786000-25791000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:25786200-25788200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:25786200-25788400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:25786200-25788600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr10:25786400-25790400	Weak transcription	Fetal Heart	heart
25	chr10:25786800-25790800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:25787000-25787200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr10:25787000-25787600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr10:25787200-25787600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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