Variant report

Variant	nsv894784
Chromosome Location	chr10:3985194-4051081
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:53)
LncRNA
region (count:7)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:4017109..4020587-chr10:4022770..4025732,3	K562	blood:
2	chr10:3998313..4000642-chr10:4003967..4005833,2	K562	blood:
3	chr10:3985359..3986054-chr20:59131753..59132507,2	MCF-7	breast:
4	chr10:3987220..3989447-chr10:3991646..3993576,2	K562	blood:
5	chr10:4017109..4020587-chr10:4022770..4025732,3	K562	blood:
6	chr10:3826601..3829527-chr10:4022671..4024333,3	K562	blood:
7	chr10:3827330..3829865-chr10:3983711..3986430,2	MCF-7	breast:
8	chr10:3826407..3828604-chr10:4003074..4005600,3	K562	blood:
9	chr10:3987220..3989447-chr10:3991646..3993576,2	K562	blood:
10	chr10:3827680..3830332-chr10:4033548..4035794,2	MCF-7	breast:
11	chr10:3827664..3829812-chr10:3985989..3988957,3	K562	blood:
12	chr10:4034845..4036569-chr10:4064234..4066048,2	MCF-7	breast:
13	chr10:3990406..3992455-chr10:3997904..3999477,2	K562	blood:
14	chr10:3985769..3988487-chr10:3989989..3992025,2	K562	blood:
15	chr10:3998272..4000817-chr10:4003234..4005418,4	MCF-7	breast:
16	chr10:3984535..3987512-chr10:3990642..3992175,2	MCF-7	breast:
17	chr10:4044243..4046356-chr10:4047732..4050540,2	K562	blood:
18	chr10:4027244..4030935-chr10:4035153..4038693,4	K562	blood:
19	chr10:4002614..4004316-chr10:4008633..4010468,2	K562	blood:
20	chr10:3827591..3829463-chr10:4014874..4016681,2	MCF-7	breast:
21	chr10:4033038..4035394-chr10:4049800..4051958,2	MCF-7	breast:
22	chr10:3979732..3981697-chr10:3991468..3993374,2	MCF-7	breast:
23	chr10:3998313..4000642-chr10:4003967..4005833,2	K562	blood:
24	chr10:3817038..3819600-chr10:3984644..3988017,3	K562	blood:
25	chr10:3826047..3829382-chr10:4003053..4005347,3	MCF-7	breast:
26	chr10:3827341..3829174-chr10:3993073..3995217,2	K562	blood:
27	chr10:3988530..3991271-chr10:4000860..4003144,2	MCF-7	breast:
28	chr10:4027807..4029524-chr10:4032130..4034992,2	MCF-7	breast:
29	chr10:3826897..3830024-chr10:4047039..4050070,3	MCF-7	breast:
30	chr10:3984535..3987512-chr10:3990642..3992175,2	MCF-7	breast:
31	chr10:3824577..3826602-chr10:3984998..3987938,2	K562	blood:
32	chr10:3825924..3829371-chr10:3995503..3998551,3	K562	blood:
33	chr10:3985769..3988487-chr10:3989989..3992025,2	K562	blood:
34	chr10:4033984..4038584-chr10:4038783..4042645,4	MCF-7	breast:
35	chr10:3204922..3206523-chr10:3999897..4002754,2	K562	blood:
36	chr10:3827925..3830199-chr10:3989751..3992643,3	K562	blood:
37	chr10:3823745..3825918-chr10:3998602..4000476,2	K562	blood:
38	chr10:3827011..3830309-chr10:3983970..3986925,3	K562	blood:
39	chr10:3827002..3831409-chr10:3988351..3992679,7	K562	blood:
40	chr10:3988530..3991271-chr10:4000860..4003144,2	MCF-7	breast:
41	chr10:4002614..4004316-chr10:4008633..4010468,2	K562	blood:
42	chr10:4033038..4035394-chr10:4049800..4051958,2	MCF-7	breast:
43	chr10:3975866..3977619-chr10:3983383..3985267,3	MCF-7	breast:
44	chr10:3811902..3814487-chr10:3990459..3993140,2	K562	blood:
45	chr10:4033984..4038584-chr10:4038783..4042645,4	MCF-7	breast:
46	chr10:3828808..3830704-chr10:4048234..4051137,2	K562	blood:
47	chr10:4027807..4029524-chr10:4032130..4034992,2	MCF-7	breast:
48	chr10:4044243..4046356-chr10:4047732..4050540,2	K562	blood:
49	chr10:4027244..4030935-chr10:4035153..4038693,4	K562	blood:
50	chr10:3998272..4000817-chr10:4003234..4005418,4	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PFKP-16	chr10:3985205-3985406	XLOC_008357
2	lnc-PFKP-16	chr10:3990701-3990946	XLOC_008357
3	lnc-PFKP-16	chr10:3988245-3988667	XLOC_008357
4	lnc-PFKP-16	chr10:4005215-4005316	XLOC_008357
5	lnc-PFKP-16	chr10:4006341-4006403	XLOC_008357
6	lnc-PFKP-16	chr10:3990701-3990731	XLOC_008357
7	lnc-PFKP-16	chr10:3990701-3991545	NONHSAT011060

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

No data

Variant related genes	Relation type
ENSG00000067082	chromatin interactions
ENSG00000226005	chromatin interactions

Extended variants
information (count: 3008 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3008 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2031574	chr10:3985194-3985195	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181177806	chr10:3985204-3985205	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs558658566	chr10:3985246-3985247	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs563791360	chr10:3985253-3985254	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs139824677	chr10:3985266-3985267	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs535180853	chr10:3985287-3985288	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs546427391	chr10:3985293-3985294	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs143116435	chr10:3985295-3985296	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs116384137	chr10:3985324-3985325	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs115621154	chr10:3985325-3985326	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs113750233	chr10:3985328-3985329	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs556979477	chr10:3985341-3985342	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs576898566	chr10:3985366-3985367	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs529656881	chr10:3985395-3985396	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs186034215	chr10:3985486-3985487	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7099446	chr10:3985509-3985510	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534784515	chr10:3985558-3985559	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553200720	chr10:3985561-3985562	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73582491	chr10:3985563-3985564	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369168018	chr10:3985566-3985567	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553078847	chr10:3985588-3985589	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs61829173	chr10:3985604-3985605	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565222054	chr10:3985624-3985625	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557448602	chr10:3985629-3985630	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542169969	chr10:3985663-3985664	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140283709	chr10:3985692-3985693	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564729132	chr10:3985742-3985743	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35493194	chr10:3985768-3985769	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114038900	chr10:3985776-3985777	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559538729	chr10:3985780-3985781	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145502957	chr10:3985794-3985795	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562266042	chr10:3985801-3985802	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35351066	chr10:3985811-3985812	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529613350	chr10:3985812-3985813	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557600912	chr10:3985817-3985818	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547798405	chr10:3985819-3985820	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575824359	chr10:3985822-3985823	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191528941	chr10:3985829-3985830	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73582494	chr10:3985833-3985834	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552081411	chr10:3985842-3985843	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184168918	chr10:3985844-3985845	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527283671	chr10:3985845-3985846	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78182297	chr10:3985870-3985871	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74114069	chr10:3985882-3985883	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557422061	chr10:3985888-3985889	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575807437	chr10:3985897-3985898	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187086733	chr10:3985901-3985902	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372877548	chr10:3985946-3985947	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573340369	chr10:3985981-3985982	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144988437	chr10:3985988-3985989	Enhancers Active TSS Weak transcription ZNF genes & repeats 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:935 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:3957400-3985400	Weak transcription	Right Ventricle	heart
2	chr10:3977400-3988400	Weak transcription	Left Ventricle	heart
3	chr10:3977800-3986800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:3978200-3985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:3978200-3987800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:3978600-3988000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr10:3979000-3987800	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:3979000-3988000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:3979000-3994400	Weak transcription	Stomach Mucosa	stomach
10	chr10:3979200-3985200	Weak transcription	Esophagus	oesophagus
11	chr10:3981800-4001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:3983600-3987200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr10:3983800-3985200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:3983800-3986200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:3983800-3986200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr10:3984000-3985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:3984000-3987800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:3984200-3990000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr10:3984400-3985200	Enhancers	Adipose Nuclei	Adipose
20	chr10:3984400-3985400	Enhancers	Dnd41	blood
21	chr10:3984400-3985400	Enhancers	HMEC	breast
22	chr10:3984400-3985400	Enhancers	NHDF-Ad	bronchial
23	chr10:3984400-3985600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:3984400-3985600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:3984400-3985600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:3984400-3985600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:3984400-3985600	Enhancers	K562	blood
28	chr10:3984400-3985600	Enhancers	Osteobl	bone
29	chr10:3984400-3986000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:3984400-3986200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:3984400-3986400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr10:3984600-3985200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:3984600-3985400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:3984600-3985600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr10:3984600-3985600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:3984600-3985600	Enhancers	HUVEC	blood vessel
37	chr10:3984600-3985600	Enhancers	NHLF	lung
38	chr10:3984600-3985800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:3984600-3986000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr10:3984600-3986000	Flanking Active TSS	NHEK	skin
41	chr10:3984800-3985600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:3984800-3987400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:3985000-3985200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr10:3985000-3985200	Enhancers	NH-A	brain
45	chr10:3985000-3986000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:3985000-3990800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr10:3985000-3994200	Weak transcription	Gastric	stomach
48	chr10:3985200-3985400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:3985200-3985400	Enhancers	Esophagus	oesophagus
50	chr10:3985200-3985400	Flanking Active TSS	NH-A	brain

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