Variant report

Variant	nsv1044746
Chromosome Location	chr10:5595343-5619941
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:64)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:5616972..5619862-chr10:5631106..5633140,2	K562	blood:
2	chr10:5519872..5522197-chr10:5605865..5607475,2	MCF-7	breast:
3	chr10:5611302..5613538-chr10:5641656..5643711,2	MCF-7	breast:
4	chr10:5531559..5534343-chr10:5598627..5601561,2	K562	blood:
5	chr10:5588926..5596967-chr10:5614767..5621599,13	MCF-7	breast:
6	chr10:5590163..5594025-chr10:5603486..5606859,3	K562	blood:
7	chr10:5606200..5608461-chr10:5634669..5639030,3	K562	blood:
8	chr10:5573411..5576339-chr10:5606332..5608916,2	K562	blood:
9	chr10:5485039..5496687-chr10:5584772..5598184,85	MCF-7	breast:
10	chr10:5602399..5604933-chr10:5614544..5616232,2	K562	blood:
11	chr10:5519492..5522236-chr10:5601737..5603732,2	K562	blood:
12	chr10:5596617..5598124-chr10:5708256..5710855,2	MCF-7	breast:
13	chr10:5544425..5547026-chr10:5598488..5600263,2	MCF-7	breast:
14	chr10:5579554..5581874-chr10:5597912..5600159,2	K562	blood:
15	chr10:5612848..5615764-chr10:5625126..5626757,2	K562	blood:
16	chr10:5599218..5601467-chr10:5626638..5630611,4	MCF-7	breast:
17	chr10:5611483..5614469-chr10:5622600..5625435,2	MCF-7	breast:
18	chr10:5598840..5600592-chr10:5600900..5603506,2	K562	blood:
19	chr10:5595998..5596581-chr10:5664936..5665458,2	MCF-7	breast:
20	chr10:5594566..5598758-chr10:5599072..5603541,5	K562	blood:
21	chr10:5597404..5599365-chr10:5605126..5607018,2	K562	blood:
22	chr10:5581645..5583393-chr10:5595505..5597370,2	K562	blood:
23	chr10:5590969..5593951-chr10:5606368..5608078,2	K562	blood:
24	chr10:5591215..5593719-chr10:5599624..5602404,2	K562	blood:
25	chr10:5594998..5598470-chr10:5658826..5662081,3	MCF-7	breast:
26	chr10:5488122..5490647-chr10:5604712..5607837,4	MCF-7	breast:
27	chr10:5488316..5491050-chr10:5609425..5610948,2	MCF-7	breast:
28	chr10:5584975..5598212-chr10:5621607..5634806,86	MCF-7	breast:
29	chr10:5593038..5596682-chr10:5605799..5608006,4	MCF-7	breast:
30	chr10:5614636..5617261-chr10:5635762..5637348,3	K562	blood:
31	chr10:5604398..5606617-chr10:5607814..5609704,2	K562	blood:
32	chr10:5589141..5591832-chr10:5607489..5609696,2	MCF-7	breast:
33	chr10:5598840..5600592-chr10:5600900..5603506,2	K562	blood:
34	chr10:5588648..5590183-chr10:5612214..5614608,2	MCF-7	breast:
35	chr10:5606135..5606698-chr10:5627266..5627800,2	MCF-7	breast:
36	chr10:5590216..5591949-chr10:5612041..5614492,2	MCF-7	breast:
37	chr10:5486761..5489275-chr10:5607037..5608724,2	K562	blood:
38	chr10:5592831..5595725-chr10:5854017..5855784,2	MCF-7	breast:
39	chr10:5594983..5597164-chr10:5655086..5657673,2	MCF-7	breast:
40	chr10:5612030..5614229-chr10:5627783..5630248,2	MCF-7	breast:
41	chr10:5593662..5596441-chr10:5715811..5718225,2	MCF-7	breast:
42	chr10:5508799..5510364-chr10:5598163..5599717,2	K562	blood:
43	chr10:5501498..5505039-chr10:5609054..5612377,4	K562	blood:
44	chr10:5508288..5510214-chr10:5604520..5606520,2	MCF-7	breast:
45	chr10:5594566..5598758-chr10:5599072..5603541,5	K562	blood:
46	chr10:5596817..5599618-chr10:5614255..5615929,2	K562	blood:
47	chr10:5606603..5608938-chr10:5627234..5631685,4	MCF-7	breast:
48	chr10:5596247..5598987-chr10:5697785..5700131,2	MCF-7	breast:
49	chr10:5596817..5599618-chr10:5614255..5615929,2	K562	blood:
50	chr10:5610864..5613331-chr10:5629489..5631298,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALML5-7	chr10:5596690-5597268	l_246_chr10:5596689-5598689_testes
2	lnc-CALML5-4	chr10:5605288-5605524	XLOC_008709
3	lnc-CALML5-7	chr10:5598499-5598689	l_246_chr10:5596689-5598689_testes
4	lnc-CALML5-5	chr10:5606767-5607268	XLOC_008710
5	lnc-CALML5-5	chr10:5608499-5608680	XLOC_008710
6	lnc-CALML5-4	chr10:5606320-5606443	XLOC_008709

No data

Variant related genes	Relation type
ENSG00000228951	chromatin interactions
ENSG00000228685	chromatin interactions
ENSG00000196372	chromatin interactions
ENSG00000173848	chromatin interactions
ENSG00000231483	chromatin interactions
ENSG00000242147	chromatin interactions
ENSG00000057608	chromatin interactions

Extended variants
information (count: 1234 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1234 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12415980	chr10:5595343-5595344	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372736683	chr10:5595349-5595350	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs564888820	chr10:5595386-5595387	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs532123471	chr10:5595399-5595400	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs185815388	chr10:5595403-5595404	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs191172572	chr10:5595431-5595432	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs183101404	chr10:5595435-5595436	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs536074606	chr10:5595453-5595454	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs530198927	chr10:5595458-5595459	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs532300249	chr10:5595469-5595470	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs143103677	chr10:5595490-5595491	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs570285123	chr10:5595520-5595521	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs72781944	chr10:5595555-5595556	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs558725399	chr10:5595575-5595576	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs570775244	chr10:5595588-5595589	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs535129592	chr10:5595589-5595590	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs114634164	chr10:5595612-5595613	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs201321845	chr10:5595628-5595629	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs377669245	chr10:5595631-5595632	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs376272681	chr10:5595654-5595655	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs572290842	chr10:5595670-5595671	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs542870163	chr10:5595673-5595674	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs559556834	chr10:5595680-5595681	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs576299457	chr10:5595684-5595685	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs543699103	chr10:5595712-5595713	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs186763136	chr10:5595745-5595746	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs77189996	chr10:5595746-5595747	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs191722060	chr10:5595819-5595820	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs73606719	chr10:5595871-5595872	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7079395	chr10:5595918-5595919	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548537281	chr10:5595921-5595922	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs113341632	chr10:5595950-5595951	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs117867077	chr10:5596009-5596010	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs80158289	chr10:5596050-5596051	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs148180408	chr10:5596076-5596077	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs7086641	chr10:5596122-5596123	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs183943441	chr10:5596145-5596146	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs58672155	chr10:5596157-5596158	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74114959	chr10:5596254-5596255	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs114088753	chr10:5596271-5596272	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs7922769	chr10:5596392-5596393	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
42	rs536985830	chr10:5596394-5596395	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs377634482	chr10:5596400-5596401	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs141153900	chr10:5596445-5596446	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs187694094	chr10:5596511-5596512	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs540645553	chr10:5596553-5596554	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs73606723	chr10:5596568-5596569	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs147000461	chr10:5596592-5596593	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs77286323	chr10:5596661-5596662	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs570230437	chr10:5596734-5596735	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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

Chromatin state (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5586200-5596600	Enhancers	Placenta	Placenta
2	chr10:5586200-5597000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:5586400-5597800	Enhancers	Esophagus	oesophagus
4	chr10:5587000-5597600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:5587600-5596800	Enhancers	Fetal Thymus	thymus
6	chr10:5588400-5608200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:5589400-5597000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr10:5590200-5596800	Enhancers	HMEC	breast
9	chr10:5590200-5597200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr10:5590200-5599400	Enhancers	Fetal Intestine Small	intestine
11	chr10:5590200-5599800	Enhancers	Fetal Intestine Large	intestine
12	chr10:5590400-5596200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:5590400-5597000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:5590600-5595600	Weak transcription	Small Intestine	intestine
15	chr10:5590600-5596200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr10:5590600-5596200	Weak transcription	Brain Angular Gyrus	brain
17	chr10:5590600-5596400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:5590800-5595600	Weak transcription	Ovary	ovary
19	chr10:5590800-5596000	Weak transcription	Colon Smooth Muscle	Colon
20	chr10:5590800-5597400	Enhancers	Stomach Mucosa	stomach
21	chr10:5590800-5598400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:5591000-5595400	Weak transcription	Brain Anterior Caudate	brain
23	chr10:5591000-5596000	Weak transcription	Adipose Nuclei	Adipose
24	chr10:5591000-5596000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr10:5591000-5596200	Weak transcription	Psoas Muscle	Psoas
26	chr10:5591000-5596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:5591000-5598600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:5591200-5595800	Weak transcription	Liver	Liver
29	chr10:5591200-5596200	Weak transcription	Fetal Brain Male	brain
30	chr10:5591400-5595400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:5591400-5596000	Weak transcription	Pancreas	Pancrea
32	chr10:5591400-5596200	Enhancers	HepG2	liver
33	chr10:5591400-5597200	Enhancers	K562	blood
34	chr10:5591400-5605400	Weak transcription	Right Atrium	heart
35	chr10:5591800-5595600	Weak transcription	Lung	lung
36	chr10:5591800-5596000	Weak transcription	NHLF	lung
37	chr10:5591800-5596200	Weak transcription	NHDF-Ad	bronchial
38	chr10:5592400-5596400	Enhancers	Colonic Mucosa	Colon
39	chr10:5592800-5595800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr10:5592800-5596600	Enhancers	HSMM	muscle
41	chr10:5592800-5596600	Enhancers	NH-A	brain
42	chr10:5593000-5595800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr10:5593000-5596400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr10:5593000-5596800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr10:5593200-5595600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr10:5593400-5601600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr10:5593600-5595600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr10:5593600-5601000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr10:5594000-5595600	Weak transcription	Gastric	stomach
50	chr10:5594000-5598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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