Variant report

Variant	esv3420474
Chromosome Location	chr10:5784362-5784820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5727747..5730181-chr10:5782433..5784785,2	K562	blood:
2	chr10:5771904..5773618-chr10:5783797..5785914,2	K562	blood:
3	chr10:5782641..5784620-chr10:5787406..5789176,2	MCF-7	breast:
4	chr10:5782892..5785876-chr10:5786792..5789358,3	K562	blood:

Variant related genes	Relation type
ENSG00000108021	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377531454	chr10:5784364-5784365	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370741168	chr10:5784395-5784396	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199550281	chr10:5784420-5784421	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs199815183	chr10:5784422-5784423	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148016874	chr10:5784426-5784427	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78692345	chr10:5784473-5784474	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535836064	chr10:5784508-5784509	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2797488	chr10:5784509-5784510	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs545910426	chr10:5784515-5784516	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201562685	chr10:5784516-5784517	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370727327	chr10:5784525-5784526	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181530835	chr10:5784588-5784589	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558678336	chr10:5784600-5784601	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185664589	chr10:5784611-5784612	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7100576	chr10:5784649-5784650	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs541204853	chr10:5784696-5784697	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189255805	chr10:5784698-5784699	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574226371	chr10:5784722-5784723	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181600375	chr10:5784730-5784731	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199512553	chr10:5784757-5784758	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77852499	chr10:5784775-5784776	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141624944	chr10:5784793-5784794	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529085442	chr10:5784818-5784819	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5753800-5787000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:5762200-5795400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:5762400-5794600	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr10:5762600-5843400	Strong transcription	Dnd41	blood
5	chr10:5762800-5793000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:5763000-5795000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr10:5763400-5788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr10:5767200-5792800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr10:5768000-5788400	Weak transcription	Fetal Brain Male	brain
11	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:5768600-5786400	Strong transcription	GM12878-XiMat	blood
13	chr10:5771800-5790000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:5773000-5788400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:5773600-5786000	Weak transcription	Right Ventricle	heart
16	chr10:5773800-5785800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:5773800-5788200	Weak transcription	Fetal Kidney	kidney
18	chr10:5774000-5788200	Weak transcription	Gastric	stomach
19	chr10:5774200-5786800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:5774400-5785200	Weak transcription	NHLF	lung
21	chr10:5774400-5788200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr10:5774400-5788200	Weak transcription	Pancreas	Pancrea
23	chr10:5774400-5788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:5774800-5788200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr10:5775000-5785600	Weak transcription	Fetal Heart	heart
26	chr10:5775200-5794400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:5775400-5786200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:5777000-5795800	Strong transcription	Fetal Thymus	thymus
29	chr10:5779000-5804600	Strong transcription	A549	lung
30	chr10:5779200-5786200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr10:5779200-5796600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:5779400-5795200	Strong transcription	Primary B cells from cord blood	blood
33	chr10:5779600-5788200	Weak transcription	Fetal Intestine Small	intestine
34	chr10:5779600-5793800	Strong transcription	HSMM	muscle
35	chr10:5779800-5789800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr10:5780400-5785200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr10:5780400-5786400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:5780400-5786400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr10:5780400-5788600	Strong transcription	Primary T cells from cord blood	blood
40	chr10:5780400-5790000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:5780400-5791400	Strong transcription	Liver	Liver
42	chr10:5780400-5791400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:5780600-5792000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr10:5780600-5793000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:5780800-5792200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:5781000-5785400	Strong transcription	NHEK	skin
47	chr10:5781000-5786400	Strong transcription	NH-A	brain
48	chr10:5781200-5789800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr10:5781200-5791400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr10:5781400-5784400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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