Variant report

Variant	nsv1038961
Chromosome Location	chr10:548140-583311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:537447..538953-chr10:549708..551934,2	K562	blood:
2	chr10:564005..566324-chr10:657951..660938,2	MCF-7	breast:
3	chr10:572682..575293-chr10:584649..586274,2	MCF-7	breast:
4	chr10:561185..563586-chr10:574597..576241,2	MCF-7	breast:
5	chr10:577006..578982-chr10:591616..594323,2	MCF-7	breast:
6	chr10:582102..583966-chr10:587212..590042,3	K562	blood:
7	chr10:551731..554315-chr10:554873..557476,2	MCF-7	breast:
8	chr10:578987..580530-chr10:655147..657083,2	MCF-7	breast:
9	chr10:556492..557579-chr10:835209..836234,4	MCF-7	breast:
10	chr10:556675..557469-chr10:840259..840863,3	MCF-7	breast:
11	chr10:557278..559128-chr10:564264..566805,2	MCF-7	breast:
12	chr10:565703..567575-chr10:571015..572923,2	MCF-7	breast:
13	chr10:555810..559181-chr10:734014..736581,3	MCF-7	breast:
14	chr10:550299..552878-chr10:830515..832425,2	MCF-7	breast:
15	chr10:556841..557546-chr10:834923..836004,5	MCF-7	breast:
16	chr10:565703..567575-chr10:571015..572923,2	MCF-7	breast:
17	chr10:481593..483760-chr10:562967..565503,2	MCF-7	breast:
18	chr10:556490..559348-chr10:561200..563635,4	MCF-7	breast:
19	chr10:551731..554315-chr10:554873..557476,2	MCF-7	breast:
20	chr10:556626..557550-chr10:572468..573398,6	MCF-7	breast:
21	chr10:580078..582771-chr10:585483..587204,2	MCF-7	breast:
22	chr10:561226..563645-chr10:565375..568269,2	K562	blood:
23	chr10:561226..563645-chr10:565375..568269,2	K562	blood:
24	chr10:565187..567915-chr10:586471..588342,2	MCF-7	breast:
25	chr10:556739..557438-chr10:855963..856846,3	MCF-7	breast:
26	chr10:556490..559348-chr10:561200..563635,4	MCF-7	breast:
27	chr10:557278..559128-chr10:564264..566805,2	MCF-7	breast:
28	chr10:556641..557560-chr10:835088..835885,2	K562	blood:
29	chr10:556626..557550-chr10:572468..573398,6	MCF-7	breast:
30	chr10:561185..563586-chr10:574597..576241,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151240	chromatin interactions
ENSG00000233021	chromatin interactions

Extended variants
information (count: 2039 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2039 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565404921	chr10:548153-548154	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs568406916	chr10:548240-548241	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs114456966	chr10:548248-548249	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs566926742	chr10:548265-548266	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs539137688	chr10:548274-548275	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs187666383	chr10:548277-548278	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs534067760	chr10:548280-548281	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs149471448	chr10:548351-548352	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs72774532	chr10:548362-548363	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557201045	chr10:548368-548369	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs577087578	chr10:548388-548389	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs816595	chr10:548389-548390	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372983879	chr10:548453-548454	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs536413055	chr10:548465-548466	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs193011929	chr10:548477-548478	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs184827065	chr10:548481-548482	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs189719103	chr10:548498-548499	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs566813468	chr10:548501-548502	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs144608949	chr10:548542-548543	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs564680756	chr10:548547-548548	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs192418018	chr10:548560-548561	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs543838212	chr10:548591-548592	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs561590751	chr10:548600-548601	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs373667153	chr10:548616-548617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530346415	chr10:548640-548641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183729935	chr10:548642-548643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539612374	chr10:548662-548663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372504685	chr10:548681-548682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532794421	chr10:548691-548692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552700983	chr10:548718-548719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188097711	chr10:548799-548800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538228248	chr10:548831-548832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138510715	chr10:548841-548842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548308871	chr10:548845-548846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567524243	chr10:548871-548872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536161577	chr10:548888-548889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377443509	chr10:548895-548896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs816594	chr10:548917-548918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142267971	chr10:548933-548934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538494046	chr10:548940-548941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182013067	chr10:548942-548943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575715875	chr10:548964-548965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574735845	chr10:549002-549003	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575008863	chr10:549040-549041	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543775277	chr10:549072-549073	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146386437	chr10:549073-549074	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575035516	chr10:549097-549098	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117736447	chr10:549106-549107	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560886002	chr10:549109-549110	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532135068	chr10:549118-549119	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1163 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:532000-557000	Weak transcription	Pancreas	Pancrea
2	chr10:537200-549400	Weak transcription	Esophagus	oesophagus
3	chr10:537200-551400	Weak transcription	Spleen	Spleen
4	chr10:537600-556600	Weak transcription	HSMM	muscle
5	chr10:538000-552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:539800-552800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:540000-556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:543600-552000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:544400-548200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr10:544600-556800	Weak transcription	Placenta	Placenta
11	chr10:544800-548200	Enhancers	Primary hematopoietic stem cells	blood
12	chr10:545000-548800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr10:545200-550600	Weak transcription	Fetal Intestine Small	intestine
14	chr10:545200-554800	Weak transcription	Ovary	ovary
15	chr10:545400-565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:545800-548600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr10:546000-548800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr10:546000-556800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr10:546200-548600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr10:546200-548800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:546200-548800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr10:546200-549000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr10:546200-550200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:546200-551800	Weak transcription	Fetal Stomach	stomach
25	chr10:546200-552800	Weak transcription	Fetal Intestine Large	intestine
26	chr10:546200-555000	Weak transcription	Left Ventricle	heart
27	chr10:546200-555200	Weak transcription	Fetal Brain Male	brain
28	chr10:546400-549000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:546400-552200	Weak transcription	Right Ventricle	heart
30	chr10:546400-552600	Weak transcription	Gastric	stomach
31	chr10:546600-548600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:546800-549200	Enhancers	Primary T cells from cord blood	blood
33	chr10:546800-556400	Weak transcription	NHLF	lung
34	chr10:547000-549600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr10:547000-550000	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:547000-552200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:547000-552200	Weak transcription	Brain Germinal Matrix	brain
38	chr10:547000-560200	Weak transcription	Aorta	Aorta
39	chr10:547200-551600	Weak transcription	Brain Angular Gyrus	brain
40	chr10:547200-552200	Weak transcription	Fetal Lung	lung
41	chr10:547200-552800	Weak transcription	Brain Substantia Nigra	brain
42	chr10:547200-555800	Weak transcription	Fetal Brain Female	brain
43	chr10:547200-556200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:547200-556800	Weak transcription	Psoas Muscle	Psoas
45	chr10:547400-550000	Weak transcription	Fetal Kidney	kidney
46	chr10:547400-551800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr10:547400-555400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr10:547400-555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:547400-556600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr10:547600-548200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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