Variant report

Variant	nsv827313
Chromosome Location	chr15:44857356-44863482
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:333)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr15:44859778-44859779	HepG2	liver:	n/a	n/a
2	CBX3	chr15:44857403-44857795	K562	blood:	n/a	n/a
3	CBX3	chr15:44857376-44857718	K562	blood:	n/a	n/a
4	CHD2	chr15:44858499-44858774	K562	blood:	n/a	n/a
5	CHD2	chr15:44862928-44862960	K562	blood:	n/a	n/a
6	CHD2	chr15:44857672-44857842	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr15:44859640-44859826	K562	blood:	n/a	n/a
8	FOS	chr15:44860562-44860772	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr15:44860605-44860761	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr15:44857267-44858467	HepG2	liver:	n/a	n/a
11	FOSL2	chr15:44862453-44862990	HepG2	liver:	n/a	n/a
12	FOSL2	chr15:44859554-44859934	HepG2	liver:	n/a	chr15:44859853-44859863 chr15:44859854-44859862 chr15:44859853-44859863 chr15:44859853-44859863
13	MAFK	chr15:44861355-44861565	Hela-S3	cervix:	n/a	chr15:44861402-44861413 chr15:44861400-44861414
14	MAFK	chr15:44861267-44861489	HepG2	liver:	n/a	chr15:44861402-44861413 chr15:44861400-44861414
15	MAFK	chr15:44861320-44861552	HepG2	liver:	n/a	chr15:44861402-44861413 chr15:44861400-44861414
16	MAZ	chr15:44860445-44860474	GM12878	blood:	n/a	n/a
17	MTA3	chr15:44858109-44858566	GM12878	blood:	n/a	n/a
18	NFATC1	chr15:44859544-44859967	GM12878	blood:	n/a	n/a
19	NFATC1	chr15:44858371-44858870	GM12878	blood:	n/a	n/a
20	NR2F2	chr15:44857585-44857922	K562	blood:	n/a	n/a
21	PML	chr15:44856406-44859103	K562	blood:	n/a	n/a
22	PML	chr15:44859620-44860263	GM12878	blood:	n/a	n/a
23	PML	chr15:44857012-44857987	GM12878	blood:	n/a	n/a
24	PML	chr15:44858015-44858950	GM12878	blood:	n/a	n/a
25	PML	chr15:44859555-44860210	K562	blood:	n/a	n/a
26	POLR2A	chr15:44857272-44859214	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr15:44857310-44857544	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:44857565-44858151	HCT-116	colon:	n/a	n/a
29	POLR2A	chr15:44863151-44863195	GM12878	blood:	n/a	n/a
30	POLR2A	chr15:44862195-44863643	HepG2	liver:	n/a	n/a
31	POLR2A	chr15:44856400-44859091	HepG2	liver:	n/a	n/a
32	POLR2A	chr15:44857198-44859138	GM12892	blood:	n/a	n/a
33	POLR2A	chr15:44856978-44859164	GM12892	blood:	n/a	n/a
34	POLR2A	chr15:44859943-44860278	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr15:44860367-44860408	K562	blood:	n/a	n/a
36	POLR2A	chr15:44856937-44859234	GM12891	blood:	n/a	n/a
37	POLR2A	chr15:44859759-44859760	GM12878	blood:	n/a	n/a
38	POLR2A	chr15:44857258-44859034	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr15:44857292-44859310	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr15:44857154-44858933	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr15:44861053-44861062	K562	blood:	n/a	n/a
42	POLR2A	chr15:44858871-44858878	GM12878	blood:	n/a	n/a
43	POLR2A	chr15:44862299-44863071	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr15:44861772-44861819	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr15:44857559-44857861	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr15:44861391-44861643	HepG2	liver:	n/a	n/a
47	POLR2A	chr15:44862232-44862605	U87	brain:	n/a	n/a
48	POLR2A	chr15:44862524-44863597	GM12891	blood:	n/a	n/a
49	POLR2A	chr15:44860567-44860979	GM12891	blood:	n/a	n/a
50	POLR2A	chr15:44857153-44859182	PANC-1	pancreas:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:44860362..44863170-chr15:44863297..44865597,2	K562	blood:
2	chr15:44845074..44847920-chr15:44856159..44858171,2	K562	blood:
3	chr15:44846922..44848532-chr15:44859953..44861559,2	K562	blood:
4	chr15:44861835..44862518-chr8:80942016..80943016,2	Hela-S3	cervix:
5	chr15:44846161..44848847-chr15:44863413..44865479,2	MCF-7	breast:
6	chr15:44854365..44856027-chr15:44860182..44862727,2	K562	blood:
7	chr15:44856012..44857813-chr15:44874355..44876849,2	K562	blood:
8	chr15:44855147..44857762-chr15:44952802..44955479,2	MCF-7	breast:
9	chr15:44858431..44861385-chr15:44865998..44869003,3	K562	blood:
10	chr15:44862426..44865796-chr15:44866440..44868950,5	K562	blood:
11	chr15:44848527..44850440-chr15:44860576..44862801,2	MCF-7	breast:
12	chr15:44863301..44864975-chr15:45050931..45052977,2	K562	blood:
13	chr15:44857346..44860002-chr15:44863192..44864823,2	K562	blood:
14	chr15:44849662..44852337-chr15:44856313..44858225,2	K562	blood:

No data

Variant related genes	Relation type
SPG11	TF binding region
ENSG00000147586	chromatin interactions
ENSG00000259659	chromatin interactions
ENSG00000104133	chromatin interactions
ENSG00000104131	chromatin interactions
ENSG00000185880	chromatin interactions

Extended variants
information (count: 300 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529810497	chr15:44857432-44857433	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs540015296	chr15:44857449-44857450	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs559947878	chr15:44857493-44857494	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs532294759	chr15:44857510-44857511	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs552489557	chr15:44857528-44857529	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs191271688	chr15:44857537-44857538	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs142847626	chr15:44857559-44857560	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs115660359	chr15:44857583-44857584	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs568186338	chr15:44857603-44857604	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs116868863	chr15:44857618-44857619	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs151049549	chr15:44857641-44857642	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs567096396	chr15:44857658-44857659	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs371438597	chr15:44857670-44857671	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs538961483	chr15:44857711-44857712	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs374756778	chr15:44857733-44857734	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs575508774	chr15:44857740-44857741	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs576363687	chr15:44857770-44857771	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs554570619	chr15:44857804-44857805	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs574574651	chr15:44857827-44857828	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113977890	chr15:44857904-44857905	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560083647	chr15:44857920-44857921	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs532335365	chr15:44857935-44857936	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566785254	chr15:44857958-44857959	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142339015	chr15:44858062-44858063	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146546289	chr15:44858070-44858071	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs373160462	chr15:44858097-44858098	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373233936	chr15:44858098-44858099	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs377341108	chr15:44858099-44858100	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs79186522	chr15:44858101-44858102	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200276333	chr15:44858107-44858108	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs543968976	chr15:44858121-44858122	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs149226233	chr15:44858128-44858129	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs146914461	chr15:44858139-44858140	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371334506	chr15:44858152-44858153	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147962000	chr15:44858159-44858160	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs142450368	chr15:44858169-44858170	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs201721414	chr15:44858173-44858174	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs151317653	chr15:44858174-44858175	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140563925	chr15:44858185-44858186	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs370773328	chr15:44858194-44858195	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs312262785	chr15:44858195-44858196	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566330854	chr15:44858202-44858203	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs539232104	chr15:44858226-44858227	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558957348	chr15:44858233-44858234	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200604975	chr15:44858244-44858245	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538179773	chr15:44858258-44858259	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74363814	chr15:44858278-44858279	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113932955	chr15:44858300-44858301	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574537561	chr15:44858318-44858319	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540281639	chr15:44858322-44858323	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44840200-44858000	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr15:44842000-44951600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:44842400-44857400	Weak transcription	Right Atrium	heart
4	chr15:44843200-44857400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:44843200-44857400	Strong transcription	Liver	Liver
6	chr15:44843200-44857400	Strong transcription	Fetal Intestine Large	intestine
7	chr15:44843200-44857600	Strong transcription	Adipose Nuclei	Adipose
8	chr15:44843200-44867800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:44843200-44868000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:44843600-44866000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:44843800-44857400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr15:44843800-44867600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr15:44844000-44866400	Strong transcription	Placenta	Placenta
14	chr15:44844000-44867600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:44844000-44867600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr15:44844000-44868200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:44844000-44870400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:44844200-44861800	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr15:44844600-44857400	Strong transcription	Brain Substantia Nigra	brain
20	chr15:44844600-44867400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr15:44844600-44867600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr15:44844800-44857400	Strong transcription	Fetal Lung	lung
23	chr15:44845000-44857600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:44845600-44865800	Strong transcription	Osteobl	bone
25	chr15:44847200-44857400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:44848000-44857400	Strong transcription	Brain Angular Gyrus	brain
27	chr15:44848000-44857600	Strong transcription	Brain Hippocampus Middle	brain
28	chr15:44848000-44858600	Strong transcription	HUVEC	blood vessel
29	chr15:44848000-44859000	Strong transcription	HSMMtube	muscle
30	chr15:44848400-44860600	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr15:44848400-44868200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr15:44849000-44858600	Strong transcription	NHDF-Ad	bronchial
33	chr15:44849000-44860800	Strong transcription	HMEC	breast
34	chr15:44849200-44859400	Strong transcription	K562	blood
35	chr15:44850400-44858400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:44850600-44863800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:44850600-44863800	Strong transcription	NHEK	skin
38	chr15:44850800-44859200	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr15:44852000-44863400	Strong transcription	Rectal Smooth Muscle	rectum
40	chr15:44853200-44861200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:44853200-44867400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr15:44853400-44861000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr15:44853400-44863200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:44853600-44858000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr15:44853600-44867400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:44854400-44858800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:44854400-44863200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr15:44854600-44861000	Strong transcription	Brain Anterior Caudate	brain
49	chr15:44854800-44859200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr15:44855000-44857400	Strong transcription	NHLF	lung

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