Variant report

Variant	nsv5609
Chromosome Location	chr10:4002849-4040114
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:22)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:4027807..4029524-chr10:4032130..4034992,2	MCF-7	breast:
2	chr10:3827680..3830332-chr10:4033548..4035794,2	MCF-7	breast:
3	chr10:4017109..4020587-chr10:4022770..4025732,3	K562	blood:
4	chr10:4033984..4038584-chr10:4038783..4042645,4	MCF-7	breast:
5	chr10:3826601..3829527-chr10:4022671..4024333,3	K562	blood:
6	chr10:3998313..4000642-chr10:4003967..4005833,2	K562	blood:
7	chr10:3988530..3991271-chr10:4000860..4003144,2	MCF-7	breast:
8	chr10:3826500..3828802-chr10:4024511..4027263,2	MCF-7	breast:
9	chr10:3826407..3828604-chr10:4003074..4005600,3	K562	blood:
10	chr10:4027244..4030935-chr10:4035153..4038693,4	K562	blood:
11	chr10:4027807..4029524-chr10:4032130..4034992,2	MCF-7	breast:
12	chr10:4033038..4035394-chr10:4049800..4051958,2	MCF-7	breast:
13	chr10:4017109..4020587-chr10:4022770..4025732,3	K562	blood:
14	chr10:3998272..4000817-chr10:4003234..4005418,4	MCF-7	breast:
15	chr10:4002614..4004316-chr10:4008633..4010468,2	K562	blood:
16	chr10:4034845..4036569-chr10:4064234..4066048,2	MCF-7	breast:
17	chr10:3826047..3829382-chr10:4003053..4005347,3	MCF-7	breast:
18	chr10:4027244..4030935-chr10:4035153..4038693,4	K562	blood:
19	chr10:4032476..4035285-chr10:4060007..4062185,2	K562	blood:
20	chr10:4033984..4038584-chr10:4038783..4042645,4	MCF-7	breast:
21	chr10:3827591..3829463-chr10:4014874..4016681,2	MCF-7	breast:
22	chr10:4002614..4004316-chr10:4008633..4010468,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PFKP-16	chr10:4006341-4006403	XLOC_008357
2	lnc-PFKP-16	chr10:4005215-4005316	XLOC_008357

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6078	chr10:4033370-4033388	MIMAT0023703

No data

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 1673 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1673 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55702286	chr10:4002869-4002870	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138417002	chr10:4002888-4002889	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs117290653	chr10:4002894-4002895	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573683947	chr10:4002897-4002898	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs76482712	chr10:4002900-4002901	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs4593901	chr10:4002947-4002948	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577753919	chr10:4003004-4003005	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545105564	chr10:4003034-4003035	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7900453	chr10:4003052-4003053	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549617589	chr10:4003064-4003065	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561459941	chr10:4003080-4003081	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149299647	chr10:4003141-4003142	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144541509	chr10:4003161-4003162	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182607757	chr10:4003195-4003196	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188483342	chr10:4003213-4003214	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs117324628	chr10:4003276-4003277	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543562282	chr10:4003303-4003304	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12217980	chr10:4003340-4003341	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs79117343	chr10:4003370-4003371	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138165474	chr10:4003396-4003397	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs193050298	chr10:4003403-4003404	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368204037	chr10:4003424-4003425	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556095169	chr10:4003464-4003465	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576995165	chr10:4003468-4003469	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12253501	chr10:4003481-4003482	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12219083	chr10:4003527-4003528	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572583540	chr10:4003565-4003566	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142651221	chr10:4003578-4003579	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146020727	chr10:4003620-4003621	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139540013	chr10:4003621-4003622	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530004889	chr10:4003659-4003660	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550498845	chr10:4003664-4003665	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548145340	chr10:4003667-4003668	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532974495	chr10:4003689-4003690	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551442156	chr10:4003697-4003698	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368503977	chr10:4003702-4003703	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533990493	chr10:4003722-4003723	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12780772	chr10:4003738-4003739	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530786748	chr10:4003746-4003747	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567130627	chr10:4003767-4003768	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559165477	chr10:4003770-4003771	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144178810	chr10:4003771-4003772	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556058428	chr10:4003789-4003790	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185624555	chr10:4003881-4003882	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551955129	chr10:4003886-4003887	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565400606	chr10:4003953-4003954	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572493432	chr10:4003977-4003978	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543116544	chr10:4003978-4003979	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570277645	chr10:4003988-4003989	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190480668	chr10:4003989-4003990	Enhancers Weak transcription Flanking Active TSS	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
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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:3998800-4003400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:4001200-4006000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr10:4001200-4006200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:4001400-4004200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr10:4001600-4003200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:4001600-4003600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr10:4001600-4003600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:4001600-4003600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:4001600-4003800	Enhancers	Primary B cells from cord blood	blood
10	chr10:4001600-4004000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr10:4001600-4004000	Enhancers	Primary B cells from peripheral blood	blood
12	chr10:4001600-4004200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr10:4001600-4004200	Flanking Active TSS	Dnd41	blood
14	chr10:4001800-4003600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr10:4001800-4003600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr10:4001800-4003600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr10:4001800-4004000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr10:4001800-4004200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:4001800-4004200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:4001800-4004400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr10:4001800-4004400	Enhancers	Fetal Thymus	thymus
22	chr10:4002000-4003600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr10:4002000-4003600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:4002000-4003600	Enhancers	Aorta	Aorta
25	chr10:4002000-4003600	Enhancers	Fetal Muscle Leg	muscle
26	chr10:4002000-4004400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr10:4002000-4004400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr10:4002200-4004000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr10:4002200-4004200	Enhancers	Primary T cells from cord blood	blood
30	chr10:4002200-4004200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr10:4002200-4004600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:4002200-4005600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr10:4002200-4022000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:4002400-4004000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr10:4002400-4005200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:4002400-4005400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:4002400-4005400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:4002400-4005400	Weak transcription	NHEK	skin
39	chr10:4002600-4003000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:4002600-4004600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:4002800-4003200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr10:4002800-4003600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr10:4002800-4004000	Enhancers	Primary hematopoietic stem cells	blood
44	chr10:4003000-4003600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:4003000-4003600	Enhancers	Thymus	Thymus
46	chr10:4003000-4003800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr10:4003200-4003400	Enhancers	Small Intestine	intestine
48	chr10:4003400-4003600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr10:4003800-4005400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:4004000-4005200	Weak transcription	Small Intestine	intestine

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