Variant report

Variant	esv2762849
Chromosome Location	chr10:27496528-27498206
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	chr10:27495142..27497027-chr10:27500759..27502307,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12259138	chr10:27496528-27496529	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144416434	chr10:27496530-27496531	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191964345	chr10:27496541-27496542	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184208853	chr10:27496555-27496556	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376567525	chr10:27496569-27496570	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539814172	chr10:27496577-27496578	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571149764	chr10:27496579-27496580	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190006295	chr10:27496631-27496632	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552511867	chr10:27496638-27496639	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566115702	chr10:27496655-27496656	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181268874	chr10:27496667-27496668	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570683738	chr10:27496700-27496701	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117800913	chr10:27496730-27496731	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566299408	chr10:27496732-27496733	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112700118	chr10:27496778-27496779	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6482603	chr10:27496877-27496878	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs571695173	chr10:27496919-27496920	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6482604	chr10:27496953-27496954	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557086267	chr10:27496956-27496957	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75093458	chr10:27497032-27497033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186201246	chr10:27497047-27497048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59672993	chr10:27497072-27497073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7919523	chr10:27497074-27497075	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs553480972	chr10:27497077-27497078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140046853	chr10:27497085-27497086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544905257	chr10:27497109-27497110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560917434	chr10:27497132-27497133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561228953	chr10:27497171-27497172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77127632	chr10:27497190-27497191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7918793	chr10:27497191-27497192	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs189115180	chr10:27497253-27497254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181926234	chr10:27497259-27497260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144860164	chr10:27497294-27497295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377281055	chr10:27497300-27497301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148555426	chr10:27497308-27497309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543720340	chr10:27497335-27497336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369898700	chr10:27497336-27497337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141960255	chr10:27497343-27497344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147305464	chr10:27497345-27497346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376322028	chr10:27497349-27497350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140366816	chr10:27497352-27497353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369301596	chr10:27497360-27497361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376203576	chr10:27497408-27497409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566411896	chr10:27497483-27497484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7919198	chr10:27497485-27497486	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs151156893	chr10:27497496-27497497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563935836	chr10:27497526-27497527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537149744	chr10:27497537-27497538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557399138	chr10:27497541-27497542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12246088	chr10:27497542-27497543	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:46)

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
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
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
3	chr10:27456200-27496800	Weak transcription	Esophagus	oesophagus
4	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
5	chr10:27474200-27512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr10:27476400-27499000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
10	chr10:27481800-27498000	Weak transcription	NHLF	lung
11	chr10:27481800-27499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:27482600-27512600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr10:27483800-27512200	Strong transcription	Liver	Liver
14	chr10:27484000-27512400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr10:27484000-27512400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:27484000-27512400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr10:27484000-27512600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr10:27484200-27512400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:27484600-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:27484800-27510800	Strong transcription	Left Ventricle	heart
21	chr10:27484800-27512400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr10:27484800-27513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:27484800-27513200	Strong transcription	Fetal Intestine Large	intestine
24	chr10:27485000-27512400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr10:27485200-27512200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr10:27485200-27512400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:27485200-27512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:27485200-27512600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr10:27485800-27505800	Strong transcription	Fetal Muscle Leg	muscle
30	chr10:27486600-27499000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr10:27486600-27508800	Strong transcription	Fetal Intestine Small	intestine
32	chr10:27486600-27508800	Strong transcription	Fetal Stomach	stomach
33	chr10:27486600-27512200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:27487200-27512400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr10:27487800-27498400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:27488000-27508800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr10:27488400-27497400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr10:27488400-27512400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr10:27488600-27528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:27488800-27507800	Weak transcription	Fetal Heart	heart
41	chr10:27489400-27504600	Strong transcription	Dnd41	blood
42	chr10:27489600-27512400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:27489800-27512200	Strong transcription	Adipose Nuclei	Adipose
44	chr10:27489800-27512400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:27489800-27512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:27490000-27512400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr10:27490000-27512400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:27490000-27512600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:27490200-27506000	Strong transcription	Primary T cells from cord blood	blood
50	chr10:27490200-27512000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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