Variant report

Variant	nsv550235
Chromosome Location	chr10:27001269-27001814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:27001340-27001490	RPTEC	kidney:	n/a	chr10:27001340-27001353
2	CTCF	chr10:27001243-27001428	Lung_OC	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
3	CTCF	chr10:27001180-27001330	HMEC	breast:	n/a	n/a
4	CTCF	chr10:27001320-27001470	AoAF	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
5	CTCF	chr10:27001371-27001405	NHEK	skin:	n/a	n/a
6	CTCF	chr10:27001280-27001430	MCF-7	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
7	CTCF	chr10:27001280-27001430	HVMF	connective:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
8	CTCF	chr10:27001260-27001410	HRE	kidney:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
9	CTCF	chr10:27001282-27001460	MCF-7	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
10	CTCF	chr10:27001245-27001455	A549	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
11	CTCF	chr10:27001500-27001650	RPTEC	kidney:	n/a	n/a
12	CTCF	chr10:27001380-27001530	HCT-116	colon:	n/a	n/a
13	CTCF	chr10:27001200-27001350	HCT-116	colon:	n/a	n/a
14	CTCF	chr10:27001180-27001330	HVMF	connective:	n/a	n/a
15	CTCF	chr10:27001280-27001430	HBMEC	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
16	CTCF	chr10:27001300-27001450	HUVEC	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
17	CTCF	chr10:27001260-27001410	NHDF-neo	bronchial:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
18	CTCF	chr10:27001280-27001430	WERI-Rb-1	eye:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
19	CTCF	chr10:27001330-27001423	ProgFib	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
20	CTCF	chr10:27001432-27001489	Fibrobl	skin:	n/a	n/a
21	CTCF	chr10:27001240-27001390	HRPEpiC	eye:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
22	CTCF	chr10:27001240-27001390	HMF	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
23	CTCF	chr10:27001260-27001419	HUVEC	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
24	CTCF	chr10:27001360-27001510	AG04450	lung:	n/a	n/a
25	CTCF	chr10:27001300-27001450	HCT-116	colon:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
26	CTCF	chr10:27001300-27001450	HRPEpiC	eye:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
27	CTCF	chr10:27001300-27001450	HAc	cerebellar:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
28	CTCF	chr10:27001300-27001450	NHDF-neo	bronchial:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
29	CTCF	chr10:27001260-27001410	Hela-S3	cervix:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
30	CTCF	chr10:27001260-27001410	RPTEC	kidney:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
31	CTCF	chr10:27001240-27001390	GM12864	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
32	CTCF	chr10:27001460-27001610	SAEC	small airway:	n/a	n/a
33	CTCF	chr10:27001303-27001437	Spleen_OC	spleen:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
34	CTCF	chr10:27001320-27001470	AG09309	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
35	CTCF	chr10:27001340-27001443	MCF-7	breast:	n/a	chr10:27001340-27001353
36	CTCF	chr10:27001349-27001459	MCF-7	breast:	n/a	n/a
37	CTCF	chr10:27001260-27001410	AG10803	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
38	CTCF	chr10:27001323-27001371	GM10248	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
39	CTCF	chr10:27001286-27001446	GM12878	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
40	CTCF	chr10:27001260-27001410	HEEpiC	esophagus:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
41	CTCF	chr10:27001300-27001450	SAEC	small airway:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
42	CTCF	chr10:27001405-27001443	GM12891	blood:	n/a	n/a
43	CTCF	chr10:27001160-27001310	GM12873	blood:	n/a	n/a
44	CTCF	chr10:27001317-27001400	HepG2	liver:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
45	CTCF	chr10:27001280-27001430	A549	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
46	CTCF	chr10:27001220-27001370	HFF	foreskin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
47	CTCF	chr10:27001284-27001487	Gliobla	brain:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
48	CTCF	chr10:27001280-27001430	NHLF	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
49	CTCF	chr10:27001260-27001410	AG09309	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
50	CTCF	chr10:27001265-27001434	HepG2	liver:	n/a	chr10:27001338-27001356 chr10:27001340-27001353

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:26996672..26998643-chr10:27000088..27002341,2	MCF-7	breast:

Variant related genes	Relation type
HSPA8P3	TF binding region
ENSG00000235843	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547844929	chr10:27001383-27001384	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs147026760	chr10:27001392-27001393	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs535034293	chr10:27001431-27001432	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs74542922	chr10:27001452-27001453	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs578151598	chr10:27001462-27001463	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs568171770	chr10:27001466-27001467	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551822915	chr10:27001511-27001512	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs557448254	chr10:27001546-27001547	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs138562378	chr10:27001592-27001593	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs543049972	chr10:27001633-27001634	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs142022622	chr10:27001682-27001683	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536777652	chr10:27001766-27001767	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
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

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26987600-27010400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:26987600-27024400	Weak transcription	Fetal Kidney	kidney
3	chr10:26987800-27010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr10:26987800-27020400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:26987800-27031200	Weak transcription	NHDF-Ad	bronchial
6	chr10:26988000-27069600	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:26988200-27004600	Weak transcription	NH-A	brain
8	chr10:26988200-27009600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:26988200-27009800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:26988400-27009800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:26989400-27031000	Weak transcription	Small Intestine	intestine
12	chr10:26990400-27002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:26994200-27007800	Strong transcription	Fetal Stomach	stomach
14	chr10:26994400-27007800	Strong transcription	Thymus	Thymus
15	chr10:26994400-27010600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:26994400-27040800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:26994600-27002400	Strong transcription	Fetal Muscle Leg	muscle
18	chr10:26994600-27004600	Strong transcription	Adipose Nuclei	Adipose
19	chr10:26995400-27023000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:26995800-27026600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr10:26996000-27001800	Strong transcription	A549	lung
22	chr10:26996000-27026600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr10:26996200-27026200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr10:26996200-27028000	Weak transcription	Psoas Muscle	Psoas
25	chr10:26996600-27004200	Weak transcription	Colonic Mucosa	Colon
26	chr10:26996600-27012000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr10:26996600-27022400	Weak transcription	Brain Angular Gyrus	brain
28	chr10:26996600-27023600	Weak transcription	Fetal Heart	heart
29	chr10:26996800-27010600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:26997200-27003400	Weak transcription	Aorta	Aorta
31	chr10:26997200-27004000	Weak transcription	Primary B cells from cord blood	blood
32	chr10:26997200-27004000	Weak transcription	Gastric	stomach
33	chr10:26997200-27010000	Weak transcription	Pancreas	Pancrea
34	chr10:26997200-27012200	Weak transcription	HSMM	muscle
35	chr10:26997200-27022800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr10:26997200-27024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:26997400-27002200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:26997400-27002400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr10:26997400-27002400	Weak transcription	Fetal Lung	lung
40	chr10:26997400-27003400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:26997400-27010600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:26997400-27022400	Weak transcription	Brain Substantia Nigra	brain
43	chr10:26997600-27002400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr10:26997600-27003600	Weak transcription	Osteobl	bone
45	chr10:26997600-27005400	Weak transcription	HUVEC	blood vessel
46	chr10:26997600-27008800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:26997600-27010400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:26997600-27012800	Weak transcription	Brain Hippocampus Middle	brain
49	chr10:26997600-27054400	Weak transcription	Fetal Brain Male	brain
50	chr10:26997800-27003400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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