Variant report

Variant	esv3426419
Chromosome Location	chr10:19943396-19945694
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	chr10:19943628..19945748-chr10:19960912..19962861,2	K562	blood:
2	chr10:19928272..19930845-chr10:19944987..19947653,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566354636	chr10:19943396-19943397	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs374026828	chr10:19943416-19943417	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188596455	chr10:19943424-19943425	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558096191	chr10:19943515-19943516	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576378724	chr10:19943516-19943517	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537504453	chr10:19943573-19943574	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555448283	chr10:19943583-19943584	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs576583887	chr10:19943597-19943598	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs34214884	chr10:19943615-19943616	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs1409743	chr10:19943616-19943617	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559160507	chr10:19943620-19943621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577836817	chr10:19943627-19943628	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149356637	chr10:19943667-19943668	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563250165	chr10:19943668-19943669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530434823	chr10:19943704-19943705	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs115157261	chr10:19943748-19943749	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs192958299	chr10:19943757-19943758	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528222383	chr10:19943761-19943762	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs574669732	chr10:19943786-19943787	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs543958211	chr10:19943811-19943812	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs76448191	chr10:19943812-19943813	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs144714548	chr10:19943820-19943821	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs532769454	chr10:19943902-19943903	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs373828228	chr10:19943917-19943918	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs12357586	chr10:19943925-19943926	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78357991	chr10:19943971-19943972	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368591571	chr10:19943983-19943984	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs139987352	chr10:19944022-19944023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145501919	chr10:19944029-19944030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12357600	chr10:19944056-19944057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs59575762	chr10:19944069-19944070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188833892	chr10:19944088-19944089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11814692	chr10:19944091-19944092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552722437	chr10:19944105-19944106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577766458	chr10:19944181-19944182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191104979	chr10:19944228-19944229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527389375	chr10:19944340-19944341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372853713	chr10:19944370-19944371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200625820	chr10:19944442-19944443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556967918	chr10:19944459-19944460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200635029	chr10:19944460-19944461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56752723	chr10:19944461-19944462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575540267	chr10:19944482-19944483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529231616	chr10:19944489-19944490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs58225191	chr10:19944491-19944492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397738657	chr10:19944499-19944500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141009308	chr10:19944507-19944508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560901077	chr10:19944545-19944546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183616086	chr10:19944576-19944577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540349019	chr10:19944577-19944578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19928400-19945600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19937000-19945400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19937400-19945600	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19940800-19943400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:19941000-19948800	Weak transcription	Aorta	Aorta
6	chr10:19941600-19944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:19941800-19943400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:19942400-19944800	Enhancers	HSMMtube	muscle
9	chr10:19942400-19946400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr10:19942400-19947800	Enhancers	HSMM	muscle
11	chr10:19942600-19943400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:19942600-19945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:19942800-19943400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr10:19942800-19943400	Enhancers	NH-A	brain
15	chr10:19942800-19943400	Enhancers	Osteobl	bone
16	chr10:19943000-19943800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:19943000-19944000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:19943000-19944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:19943000-19945000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:19943000-19945000	Enhancers	HMEC	breast
21	chr10:19943000-19945200	Enhancers	NHLF	lung
22	chr10:19943200-19943600	Enhancers	Colon Smooth Muscle	Colon
23	chr10:19943200-19943800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:19943200-19944400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:19943200-19944400	Enhancers	NHEK	skin
26	chr10:19943400-19943600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:19943400-19943800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:19943400-19943800	Flanking Active TSS	NH-A	brain
29	chr10:19943400-19943800	Flanking Active TSS	Osteobl	bone
30	chr10:19943400-19944200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:19943400-19945400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:19943400-19950000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:19943600-19943800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:19943800-19944000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:19943800-19944200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:19943800-19944800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:19943800-19946400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr10:19943800-19946600	Enhancers	NH-A	brain
39	chr10:19943800-19946800	Enhancers	Osteobl	bone
40	chr10:19944000-19944200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:19944000-19946000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:19944200-19944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:19944400-19947000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:19944400-19949200	Weak transcription	NHEK	skin
45	chr10:19944600-19949600	Enhancers	Liver	Liver
46	chr10:19944800-19945000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:19944800-19945000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:19944800-19947200	Weak transcription	HSMMtube	muscle
49	chr10:19945000-19949000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:19945000-19949000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links