Variant report

Variant	nsv525080
Chromosome Location	chr10:5754611-5766337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:5757502-5757812	H1-hESC	embryonic stem cell:	n/a	chr10:5757661-5757672
2	CEBPB	chr10:5757416-5757816	ECC-1	luminal epithelium:	n/a	chr10:5757661-5757672
3	CEBPB	chr10:5757585-5757752	K562	blood:	n/a	chr10:5757661-5757672
4	CEBPB	chr10:5757569-5757769	HepG2	liver:	n/a	chr10:5757661-5757672
5	CEBPB	chr10:5757615-5757712	A549	lung:	n/a	chr10:5757661-5757672
6	CEBPB	chr10:5757362-5757825	ECC-1	luminal epithelium:	n/a	chr10:5757661-5757672
7	CHD1	chr10:5765807-5765932	GM12878	blood:	n/a	n/a
8	CTCF	chr10:5757828-5758081	MCF-7	breast:	n/a	n/a
9	CTCF	chr10:5757873-5758053	Pancreas_OC	pancreas:	n/a	n/a
10	CTCF	chr10:5757900-5758035	GM12878	blood:	n/a	n/a
11	CTCF	chr10:5757840-5758009	MCF-7	breast:	n/a	n/a
12	CTCF	chr10:5757917-5758014	GM10266	blood:	n/a	n/a
13	CTCF	chr10:5757780-5758114	GM12878	blood:	n/a	n/a
14	CTCF	chr10:5757820-5757970	A549	lung:	n/a	n/a
15	CTCF	chr10:5757900-5758050	GM12865	blood:	n/a	n/a
16	CTCF	chr10:5757891-5758012	GM20000	blood:	n/a	n/a
17	CTCF	chr10:5757797-5758080	K562	blood:	n/a	n/a
18	CTCF	chr10:5757930-5758014	GM10248	blood:	n/a	n/a
19	CTCF	chr10:5757814-5758072	K562	blood:	n/a	n/a
20	CTCF	chr10:5757980-5758130	HCT-116	colon:	n/a	n/a
21	CTCF	chr10:5757900-5758050	GM12867	blood:	n/a	n/a
22	CTCF	chr10:5757903-5758018	GM13976	blood:	n/a	n/a
23	CTCF	chr10:5757878-5757997	MCF-7	breast:	n/a	n/a
24	CTCF	chr10:5757682-5758216	MCF-7	breast:	n/a	n/a
25	CTCF	chr10:5757874-5758058	GM13977	blood:	n/a	n/a
26	CTCF	chr10:5757920-5758070	GM12871	blood:	n/a	n/a
27	CTCF	chr10:5757915-5757921	Medullo	brain:	n/a	n/a
28	CTCF	chr10:5757880-5758030	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr10:5757917-5757959	GM12892	blood:	n/a	n/a
30	CTCF	chr10:5757925-5757998	Medullo	brain:	n/a	n/a
31	CTCF	chr10:5757900-5758050	GM12864	blood:	n/a	n/a
32	CTCF	chr10:5757911-5757984	NHEK	skin:	n/a	n/a
33	CTCF	chr10:5757940-5758090	MCF-7	breast:	n/a	n/a
34	CTCF	chr10:5757900-5758050	HepG2	liver:	n/a	n/a
35	CTCF	chr10:5757880-5758030	HCT-116	colon:	n/a	n/a
36	CTCF	chr10:5757900-5758050	GM12872	blood:	n/a	n/a
37	CTCF	chr10:5757838-5758031	HepG2	liver:	n/a	n/a
38	CTCF	chr10:5757920-5758070	GM12864	blood:	n/a	n/a
39	CTCF	chr10:5757816-5758087	MCF-7	breast:	n/a	n/a
40	CTCF	chr10:5757880-5758030	GM12866	blood:	n/a	n/a
41	CTCF	chr10:5757911-5758072	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr10:5757903-5758009	K562	blood:	n/a	n/a
43	CTCF	chr10:5757900-5758050	Caco-2	colon:	n/a	n/a
44	CTCF	chr10:5757840-5757990	GM12878	blood:	n/a	n/a
45	CTCF	chr10:5757880-5758030	GM12875	blood:	n/a	n/a
46	CTCF	chr10:5757828-5758053	GM19239	blood:	n/a	n/a
47	CTCF	chr10:5757900-5758050	GM12875	blood:	n/a	n/a
48	CTCF	chr10:5757820-5757970	GM06990	blood:	n/a	n/a
49	CTCF	chr10:5757920-5758070	GM12865	blood:	n/a	n/a
50	CTCF	chr10:5757880-5758030	Caco-2	colon:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5751112..5753798-chr10:5754382..5757716,3	K562	blood:
2	chr10:5725582..5728827-chr10:5752793..5758658,6	MCF-7	breast:
3	chr10:5725933..5727611-chr10:5766306..5768774,2	MCF-7	breast:
4	chr10:5758294..5759916-chr10:5768801..5770809,2	K562	blood:
5	chr10:5757345..5759947-chr10:5761882..5764434,2	K562	blood:
6	chr10:5707719..5709670-chr10:5755550..5758097,2	MCF-7	breast:
7	chr10:5748091..5753661-chr10:5757526..5761076,4	K562	blood:
8	chr10:5766311..5769267-chr10:5770852..5774721,4	K562	blood:
9	chr10:5754503..5756653-chr10:5756794..5759759,2	K562	blood:
10	chr10:5733731..5736743-chr10:5750015..5755601,4	MCF-7	breast:
11	chr10:5730140..5732838-chr10:5762555..5765263,2	MCF-7	breast:
12	chr10:5749811..5754744-chr10:5757295..5761114,5	MCF-7	breast:
13	chr10:5758553..5760843-chr10:5766010..5768055,2	MCF-7	breast:
14	chr10:5733545..5736331-chr10:5766284..5768389,2	K562	blood:
15	chr10:5757345..5759947-chr10:5761882..5764434,2	K562	blood:
16	chr10:5748194..5752835-chr10:5754048..5756817,4	MCF-7	breast:
17	chr10:5726626..5728206-chr10:5753168..5755087,2	K562	blood:
18	chr10:5762001..5764340-chr10:5764704..5766280,2	K562	blood:
19	chr10:5762001..5764340-chr10:5764704..5766280,2	K562	blood:
20	chr10:5758553..5760843-chr10:5766010..5768055,2	MCF-7	breast:
21	chr10:5756392..5758404-chr10:5826937..5829505,2	K562	blood:
22	chr10:5760893..5762838-chr10:5855669..5858245,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALML3-1	chr10:5762507-5762574	NONHSAT011175
2	lnc-CALML3-1	chr10:5756098-5756170	NONHSAT011175
3	lnc-CALML3-1	chr10:5759622-5759713	NONHSAT011175
4	lnc-CALML3-1	chr10:5754786-5754835	NONHSAT011176
5	lnc-CALML3-1	chr10:5754786-5754881	NONHSAT011175
6	lnc-GDI2-1	chr10:5754383-5754651	ENSG00000226647.2
7	lnc-GDI2-1	chr10:5754177-5754651	ENSG00000226647.1
8	lnc-GDI2-1	chr10:5755711-5756386	ENSG00000226647.2
9	lnc-GDI2-1	chr10:5754137-5754651	ENSG00000226647.2

No data

Variant related genes	Relation type
FAM208B	TF binding region
ENSG00000226647	TF binding region
ENSG00000057608	chromatin interactions
ENSG00000196372	chromatin interactions
ENSG00000108021	chromatin interactions
ENSG00000226647	chromatin interactions
ENSG00000272764	chromatin interactions

Extended variants
information (count: 446 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2244755	chr10:5754611-5754612	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551597287	chr10:5754613-5754614	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs567855728	chr10:5754638-5754639	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs565023089	chr10:5754694-5754695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116557830	chr10:5754708-5754709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550371522	chr10:5754713-5754714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2275771	chr10:5754721-5754722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538676631	chr10:5754756-5754757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368926711	chr10:5754819-5754820	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs554112996	chr10:5754824-5754825	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs565868943	chr10:5754834-5754835	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs112451517	chr10:5754840-5754841	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs567351449	chr10:5754913-5754914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536340258	chr10:5754928-5754929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527499054	chr10:5754970-5754971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10795485	chr10:5755047-5755048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs180847917	chr10:5755048-5755049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556481120	chr10:5755071-5755072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556200742	chr10:5755120-5755121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377511472	chr10:5755151-5755152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10795488	chr10:5755207-5755208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs75719995	chr10:5755231-5755232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560083983	chr10:5755233-5755234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554356103	chr10:5755261-5755262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572819389	chr10:5755266-5755267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572216632	chr10:5755280-5755281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542747277	chr10:5755288-5755289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560924113	chr10:5755323-5755324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376669740	chr10:5755337-5755338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531954678	chr10:5755367-5755368	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550318693	chr10:5755381-5755382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115687453	chr10:5755401-5755402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184918383	chr10:5755410-5755411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370766167	chr10:5755418-5755419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190163426	chr10:5755437-5755438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565735588	chr10:5755439-5755440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139895187	chr10:5755460-5755461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373625244	chr10:5755473-5755474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570235461	chr10:5755508-5755509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368620009	chr10:5755563-5755564	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs77658659	chr10:5755665-5755666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs182845149	chr10:5755669-5755670	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs35040281	chr10:5755685-5755686	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs188760351	chr10:5755690-5755691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556302753	chr10:5755768-5755769	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs191510272	chr10:5755784-5755785	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs36043571	chr10:5755797-5755798	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs538920053	chr10:5755813-5755814	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs12570524	chr10:5755832-5755833	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs561644420	chr10:5755833-5755834	Weak transcription	Chromatin interactive region lncRNA	2 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
Melanoma	17363583	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

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5734800-5763400	Weak transcription	HSMM	muscle
2	chr10:5735200-5767000	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:5735400-5761600	Weak transcription	NHEK	skin
4	chr10:5735400-5762000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:5738600-5769000	Weak transcription	Left Ventricle	heart
6	chr10:5740400-5768600	Weak transcription	Psoas Muscle	Psoas
7	chr10:5741400-5760600	Weak transcription	Small Intestine	intestine
8	chr10:5741400-5765600	Weak transcription	A549	lung
9	chr10:5743200-5762600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:5750000-5763400	Weak transcription	K562	blood
11	chr10:5751600-5763800	Weak transcription	Osteobl	bone
12	chr10:5752200-5763600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:5752600-5760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:5752600-5767000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:5753000-5762600	Weak transcription	Dnd41	blood
16	chr10:5753600-5762800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:5753600-5762800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr10:5753600-5763400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:5753600-5764000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:5753800-5755400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:5753800-5757600	Weak transcription	Right Atrium	heart
22	chr10:5753800-5760000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr10:5753800-5762200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr10:5753800-5762200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr10:5753800-5762200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr10:5753800-5762400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:5753800-5763000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr10:5753800-5763200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:5753800-5763600	Weak transcription	Adipose Nuclei	Adipose
30	chr10:5753800-5763600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:5753800-5764600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:5753800-5765600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:5753800-5768600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr10:5753800-5769000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr10:5753800-5769000	Weak transcription	Thymus	Thymus
36	chr10:5753800-5772200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr10:5753800-5772400	Weak transcription	Brain Anterior Caudate	brain
38	chr10:5753800-5772600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:5753800-5772800	Weak transcription	Brain Hippocampus Middle	brain
40	chr10:5753800-5773200	Weak transcription	NHLF	lung
41	chr10:5753800-5783400	Weak transcription	Brain Substantia Nigra	brain
42	chr10:5753800-5787000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr10:5754000-5755000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr10:5754000-5761400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:5754000-5762200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:5754000-5762400	Weak transcription	GM12878-XiMat	blood
47	chr10:5754000-5762600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:5754000-5762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:5754000-5762800	Weak transcription	HMEC	breast
50	chr10:5754000-5763400	Weak transcription	Primary B cells from cord blood	blood

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