Variant report

Variant	esv3377485
Chromosome Location	chr10:6471246-6475544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6473273..6475570-chr10:6476657..6479194,2	K562	blood:
2	chr10:6473077..6475570-chr10:6476821..6479194,2	K562	blood:
3	chr10:6472528..6475094-chr10:6479400..6481457,2	K562	blood:
4	chr10:6470360..6472017-chr10:6474938..6476663,2	K562	blood:
5	chr10:6470360..6472017-chr10:6474938..6476663,2	K562	blood:

Extended variants
information (count: 195 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573677747	chr10:6471250-6471251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535396902	chr10:6471254-6471255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs681023	chr10:6471318-6471319	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570503751	chr10:6471332-6471333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs681071	chr10:6471343-6471344	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs545683835	chr10:6471365-6471366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564267032	chr10:6471447-6471448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542323900	chr10:6471452-6471453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572868275	chr10:6471465-6471466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540305108	chr10:6471488-6471489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368026031	chr10:6471521-6471522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561693162	chr10:6471530-6471531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386740453	chr10:6471540-6471541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs584413	chr10:6471541-6471542	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563034506	chr10:6471542-6471543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544315752	chr10:6471556-6471557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112381892	chr10:6471607-6471608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142965493	chr10:6471650-6471651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374897166	chr10:6471721-6471722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575700345	chr10:6471729-6471730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551691046	chr10:6471749-6471750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560664699	chr10:6471798-6471799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11596750	chr10:6471816-6471817	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs151129518	chr10:6471824-6471825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141040151	chr10:6471841-6471842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11258742	chr10:6471941-6471942	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs56980348	chr10:6471954-6471955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12784332	chr10:6471961-6471962	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs58864263	chr10:6471966-6471967	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184413994	chr10:6472018-6472019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188222334	chr10:6472020-6472021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs625804	chr10:6472033-6472034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559020174	chr10:6472051-6472052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528201134	chr10:6472068-6472069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72638713	chr10:6472069-6472070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541211866	chr10:6472096-6472097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555490184	chr10:6472097-6472098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371153907	chr10:6472143-6472144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117699098	chr10:6472160-6472161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544230650	chr10:6472161-6472162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1889001	chr10:6472247-6472248	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs75610065	chr10:6472260-6472261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369516335	chr10:6472299-6472300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140272101	chr10:6472322-6472323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552199681	chr10:6472423-6472424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112123005	chr10:6472492-6472493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35461411	chr10:6472507-6472508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549113874	chr10:6472528-6472529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561112803	chr10:6472546-6472547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181797991	chr10:6472552-6472553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6452600-6478600	Weak transcription	Brain Anterior Caudate	brain
2	chr10:6452600-6481400	Weak transcription	Brain Substantia Nigra	brain
3	chr10:6454000-6472800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:6456200-6496600	Weak transcription	Pancreas	Pancrea
5	chr10:6459800-6472600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr10:6460600-6481200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr10:6460800-6472600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:6464200-6487200	Strong transcription	Fetal Thymus	thymus
9	chr10:6464400-6485800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:6464600-6490600	Strong transcription	Primary T cells from cord blood	blood
11	chr10:6464800-6487400	Strong transcription	Thymus	Thymus
12	chr10:6465800-6481000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:6465800-6486600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr10:6465800-6496200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:6465800-6496600	Weak transcription	Psoas Muscle	Psoas
16	chr10:6465800-6501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:6466000-6475000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr10:6466000-6486600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:6466400-6487800	Weak transcription	Fetal Stomach	stomach
20	chr10:6467000-6487200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr10:6467400-6496200	Weak transcription	Lung	lung
22	chr10:6467600-6481000	Weak transcription	Fetal Intestine Small	intestine
23	chr10:6467600-6487600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr10:6467800-6471400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr10:6467800-6473600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:6467800-6486000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:6467800-6487000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:6467800-6487400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:6467800-6487600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr10:6468000-6473800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:6468000-6483800	Weak transcription	K562	blood
32	chr10:6468000-6487600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr10:6468000-6487800	Weak transcription	Brain Angular Gyrus	brain
34	chr10:6468200-6473600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr10:6468200-6496800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr10:6468400-6477600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr10:6468400-6478800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr10:6468400-6484600	Weak transcription	Spleen	Spleen
39	chr10:6469200-6473400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr10:6469200-6477400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr10:6469200-6479400	Strong transcription	Dnd41	blood
42	chr10:6469600-6473800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr10:6469800-6484000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:6470200-6480600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr10:6470200-6483400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr10:6470400-6472400	Weak transcription	Brain Hippocampus Middle	brain
47	chr10:6470600-6472400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr10:6470800-6475400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr10:6471000-6472400	Weak transcription	Fetal Muscle Leg	muscle
50	chr10:6471200-6473200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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