Variant report

Variant	nsv569301
Chromosome Location	chr15:44797575-44814968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:44800515-44800570	GM13976	blood:	n/a	n/a
2	FOS	chr15:44811588-44812172	HUVEC	blood vessel:	n/a	chr15:44811929-44811941 chr15:44811931-44811939 chr15:44811929-44811940 chr15:44811931-44811940 chr15:44811930-44811939 chr15:44811932-44811939 chr15:44811930-44811940
3	FOS	chr15:44811832-44812023	MCF10A-Er-Src	breast:	n/a	chr15:44811929-44811941 chr15:44811931-44811939 chr15:44811929-44811940 chr15:44811931-44811940 chr15:44811930-44811939 chr15:44811932-44811939 chr15:44811930-44811940
4	FOS	chr15:44811903-44812011	MCF10A-Er-Src	breast:	n/a	chr15:44811929-44811941 chr15:44811931-44811939 chr15:44811929-44811940 chr15:44811931-44811940 chr15:44811930-44811939 chr15:44811932-44811939 chr15:44811930-44811940
5	JUN	chr15:44811763-44812334	HUVEC	blood vessel:	n/a	chr15:44811929-44811941 chr15:44811931-44811939 chr15:44812272-44812281 chr15:44812273-44812280 chr15:44811931-44811940 chr15:44811930-44811939 chr15:44812272-44812280 chr15:44812271-44812281 chr15:44812270-44812282 chr15:44811932-44811939 chr15:44811930-44811940 chr15:44812271-44812280
6	JUN	chr15:44804547-44804600	K562	blood:	n/a	n/a
7	JUND	chr15:44811773-44812457	HepG2	liver:	n/a	chr15:44811929-44811941 chr15:44811931-44811939 chr15:44812272-44812281 chr15:44812273-44812280 chr15:44811931-44811940 chr15:44811930-44811939 chr15:44812272-44812280 chr15:44812271-44812281 chr15:44812270-44812282 chr15:44811932-44811939 chr15:44811930-44811940 chr15:44811929-44811940 chr15:44812271-44812280
8	JUND	chr15:44811725-44812050	Hela-S3	cervix:	n/a	chr15:44811929-44811941 chr15:44811931-44811939 chr15:44811931-44811940 chr15:44811930-44811939 chr15:44811932-44811939 chr15:44811930-44811940 chr15:44811929-44811940
9	KAP1	chr15:44811752-44811945	K562	blood:	n/a	chr15:44811929-44811938 chr15:44811932-44811941
10	MAFF	chr15:44811846-44812079	K562	blood:	n/a	n/a
11	MAFK	chr15:44803491-44803710	HepG2	liver:	n/a	n/a
12	NFIC	chr15:44798425-44799096	ECC-1	luminal epithelium:	n/a	n/a
13	NFIC	chr15:44798495-44799079	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr15:44804164-44804354	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr15:44798219-44798461	HepG2	liver:	n/a	n/a
16	POLR2A	chr15:44809157-44809192	HepG2	liver:	n/a	n/a
17	POLR2A	chr15:44804266-44804270	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:44804277-44804376	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr15:44810871-44811071	K562	blood:	n/a	n/a
20	POLR2A	chr15:44798396-44798494	ProgFib	skin:	n/a	n/a
21	POLR2A	chr15:44812050-44812147	HepG2	liver:	n/a	n/a
22	POLR2A	chr15:44801902-44802002	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr15:44814313-44814530	HepG2	liver:	n/a	n/a
24	POLR2A	chr15:44801925-44801933	HepG2	liver:	n/a	n/a
25	POLR2A	chr15:44808435-44808471	HepG2	liver:	n/a	n/a
26	POLR2A	chr15:44799401-44799514	HepG2	liver:	n/a	n/a
27	POLR2A	chr15:44801967-44802028	HepG2	liver:	n/a	n/a
28	POLR2A	chr15:44799945-44800014	GM12878	blood:	n/a	n/a
29	POLR2A	chr15:44807908-44807929	HepG2	liver:	n/a	n/a
30	POLR2A	chr15:44812473-44812729	HepG2	liver:	n/a	n/a
31	POLR2A	chr15:44803792-44803977	HepG2	liver:	n/a	n/a
32	POLR2A	chr15:44804163-44804184	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr15:44814801-44814822	HepG2	liver:	n/a	n/a
34	STAT3	chr15:44807504-44807645	MCF10A-Er-Src	breast:	n/a	n/a
35	TBL1XR1	chr15:44811189-44811213	K562	blood:	n/a	n/a
36	TEAD4	chr15:44798597-44799060	ECC-1	luminal epithelium:	n/a	n/a
37	TEAD4	chr15:44798607-44799076	ECC-1	luminal epithelium:	n/a	n/a
38	ZNF143	chr15:44810678-44811058	K562	blood:	n/a	n/a
39	ZNF143	chr15:44810756-44811070	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZNF143	chr15:44810758-44811017	Hela-S3	cervix:	n/a	n/a
41	ZNF384	chr15:44798193-44798216	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:44768699..44770255-chr15:44803080..44806001,2	K562	blood:
2	chr15:44795686..44797676-chr15:44798253..44800267,2	K562	blood:
3	chr15:44792872..44795077-chr15:44796224..44800034,3	K562	blood:
4	chr15:44795686..44797676-chr15:44798253..44800267,2	K562	blood:
5	chr15:44812885..44814662-chr15:44827033..44829093,2	K562	blood:
6	chr15:44798357..44800226-chr15:44837362..44838908,2	K562	blood:
7	chr15:44805117..44807189-chr15:44810192..44812893,2	K562	blood:
8	chr15:44809581..44812209-chr15:44829187..44830726,2	K562	blood:
9	chr15:44719413..44722163-chr15:44807893..44809754,2	K562	blood:
10	chr15:44812824..44815042-chr15:44827398..44829077,2	K562	blood:
11	chr15:44803518..44806265-chr15:44822302..44825161,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPG11-2	chr15:44808848-44809112	ENSG00000259563.1
2	lnc-SPG11-2	chr15:44809449-44809681	ENSG00000259563.1

Variant related genes	Relation type
ENSG00000259563	TF binding region
CTDSPL2	TF binding region
ENSG00000137770	chromatin interactions
ENSG00000104131	chromatin interactions
ENSG00000179523	chromatin interactions

Extended variants
information (count: 656 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10467910	chr15:44797575-44797576	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11633001	chr15:44797582-44797583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200824591	chr15:44797617-44797618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529542619	chr15:44797627-44797628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376419933	chr15:44797629-44797630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370414853	chr15:44797648-44797649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549287460	chr15:44797649-44797650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10467977	chr15:44797674-44797675	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188209801	chr15:44797742-44797743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552515298	chr15:44797820-44797821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564653653	chr15:44797824-44797825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534681872	chr15:44797839-44797840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192469203	chr15:44797856-44797857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528788552	chr15:44797879-44797880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62024139	chr15:44797931-44797932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs63118360	chr15:44797934-44797935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547261976	chr15:44797944-44797945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76304177	chr15:44797948-44797949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201382764	chr15:44797949-44797950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184524506	chr15:44798003-44798004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142892938	chr15:44798004-44798005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144938173	chr15:44798013-44798014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536519135	chr15:44798071-44798072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149040733	chr15:44798148-44798149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36064265	chr15:44798159-44798160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573205941	chr15:44798168-44798169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369987840	chr15:44798224-44798225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80346160	chr15:44798246-44798247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113007800	chr15:44798248-44798249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367631305	chr15:44798289-44798290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143039385	chr15:44798301-44798302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575256664	chr15:44798307-44798308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543974065	chr15:44798320-44798321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138619756	chr15:44798340-44798341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141451997	chr15:44798388-44798389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542846208	chr15:44798416-44798417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559596106	chr15:44798424-44798425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528799308	chr15:44798428-44798429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146998500	chr15:44798444-44798445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138158414	chr15:44798472-44798473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564447658	chr15:44798505-44798506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550127172	chr15:44798508-44798509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568634370	chr15:44798515-44798516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370248523	chr15:44798564-44798565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372461958	chr15:44798611-44798612	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190262934	chr15:44798646-44798647	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141730758	chr15:44798666-44798667	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2433347	chr15:44798679-44798680	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150436279	chr15:44798692-44798693	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557678327	chr15:44798701-44798702	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Oral squamous cell carcinoma	17134496	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
Renal cell carcinoma	18765545	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
Mental retardation	17124404	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44740600-44824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:44750000-44827400	Weak transcription	Pancreas	Pancrea
4	chr15:44750200-44828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:44754600-44816200	Weak transcription	Brain Angular Gyrus	brain
6	chr15:44757000-44827400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:44774000-44800400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:44775800-44820200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:44776200-44801400	Strong transcription	Dnd41	blood
10	chr15:44777200-44803800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:44777600-44801800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:44778000-44827800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:44778000-44827800	Weak transcription	Psoas Muscle	Psoas
14	chr15:44779800-44813600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:44779800-44824200	Weak transcription	Gastric	stomach
16	chr15:44779800-44827800	Weak transcription	Aorta	Aorta
17	chr15:44783200-44819400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr15:44783200-44827800	Weak transcription	NHLF	lung
19	chr15:44783600-44828000	Weak transcription	HSMMtube	muscle
20	chr15:44783800-44816400	Weak transcription	HMEC	breast
21	chr15:44784000-44799800	Weak transcription	Osteobl	bone
22	chr15:44785800-44804800	Weak transcription	Fetal Heart	heart
23	chr15:44787200-44801000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr15:44789400-44799800	Weak transcription	NHDF-Ad	bronchial
25	chr15:44790400-44827200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:44790800-44807000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr15:44790800-44813600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:44790800-44827800	Weak transcription	Small Intestine	intestine
29	chr15:44791000-44812000	Weak transcription	Colonic Mucosa	Colon
30	chr15:44791000-44818600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr15:44791400-44803000	Weak transcription	Fetal Brain Male	brain
32	chr15:44791800-44826800	Weak transcription	Brain Germinal Matrix	brain
33	chr15:44792800-44800000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:44794000-44798000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:44794600-44797600	Strong transcription	GM12878-XiMat	blood
36	chr15:44794600-44800600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:44794600-44801000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr15:44794600-44801200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:44794600-44804200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:44795000-44798000	Strong transcription	HUVEC	blood vessel
41	chr15:44795000-44820400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr15:44795200-44801200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:44795200-44820200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:44795400-44797600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr15:44795400-44797600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr15:44795400-44797800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr15:44795400-44798000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:44795400-44799600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:44795400-44801600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:44795400-44802600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links