Variant report

Variant	nsv974576
Chromosome Location	chr15:50756726-50761869
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	chr15:50757100-50757250	GM12868	blood:	n/a	n/a
2	EGR1	chr15:50757418-50757594	K562	blood:	n/a	chr15:50757540-50757553
3	GATA3	chr15:50759455-50759560	SH-SY5Y	brain:	n/a	n/a
4	MAFF	chr15:50757024-50757349	K562	blood:	n/a	chr15:50757183-50757201
5	MAFF	chr15:50757022-50757366	HepG2	liver:	n/a	chr15:50757183-50757201
6	MAFK	chr15:50757016-50757360	HepG2	liver:	n/a	chr15:50757189-50757200 chr15:50757184-50757200 chr15:50757189-50757200 chr15:50757184-50757199
7	MAFK	chr15:50757028-50757344	K562	blood:	n/a	chr15:50757189-50757200 chr15:50757184-50757200 chr15:50757189-50757200 chr15:50757184-50757199
8	MAFK	chr15:50757024-50757360	IMR90	lung:	n/a	chr15:50757189-50757200 chr15:50757184-50757200 chr15:50757189-50757200 chr15:50757184-50757199
9	MAFK	chr15:50757154-50757329	H1-hESC	embryonic stem cell:	n/a	chr15:50757189-50757200 chr15:50757184-50757200 chr15:50757189-50757200 chr15:50757184-50757199
10	MAFK	chr15:50757009-50757370	HepG2	liver:	n/a	chr15:50757189-50757200 chr15:50757184-50757200 chr15:50757189-50757200 chr15:50757184-50757199
11	MAFK	chr15:50757056-50757270	Hela-S3	cervix:	n/a	chr15:50757189-50757200 chr15:50757184-50757200 chr15:50757189-50757200 chr15:50757184-50757199
12	POLR2A	chr15:50758895-50759309	K562	blood:	n/a	n/a
13	POLR2A	chr15:50758892-50758909	A549	lung:	n/a	n/a
14	POLR2A	chr15:50759088-50759215	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr15:50759830-50760049	HepG2	liver:	n/a	n/a
16	POLR2A	chr15:50759189-50759290	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr15:50758686-50759298	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:50758783-50759236	K562	blood:	n/a	n/a
19	POLR2A	chr15:50757242-50757272	HepG2	liver:	n/a	n/a
20	POLR2A	chr15:50758904-50758965	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:50759355-50759536	K562	blood:	n/a	n/a
22	POLR2A	chr15:50758812-50758912	A549	lung:	n/a	n/a
23	SP1	chr15:50758790-50759156	H1-hESC	embryonic stem cell:	n/a	n/a
24	SPI1	chr15:50757519-50757717	GM12891	blood:	n/a	n/a
25	SPI1	chr15:50757536-50757808	GM12891	blood:	n/a	n/a
26	STAT3	chr15:50757900-50758016	MCF10A-Er-Src	breast:	n/a	n/a
27	TBP	chr15:50758818-50759070	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50760410..50763305-chr15:50781533..50783933,2	MCF-7	breast:
2	chr15:50645594..50649830-chr15:50754186..50757976,9	MCF-7	breast:
3	chr15:50645596..50647982-chr15:50760297..50761861,2	MCF-7	breast:
4	chr15:50757865..50759498-chr15:50761115..50762752,2	K562	blood:
5	chr15:50647970..50649936-chr15:50757455..50759138,2	K562	blood:
6	chr15:50643045..50650563-chr15:50756489..50761004,9	MCF-7	breast:
7	chr15:50714167..50717142-chr15:50755820..50757531,2	MCF-7	breast:
8	chr15:50645851..50647649-chr15:50756686..50758653,2	K562	blood:
9	chr15:50753494..50757825-chr15:50759716..50762728,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC27A2-2	chr15:50758935-50759293	NONHSAT042421

Variant related genes	Relation type
ENSG00000242737	TF binding region
ENSG00000242737	chromatin interactions
ENSG00000138592	chromatin interactions
ENSG00000252376	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000244879	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555097749	chr15:50756752-50756753	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs377104747	chr15:50756817-50756818	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs11070780	chr15:50756859-50756860	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11629507	chr15:50756865-50756866	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs11070781	chr15:50756915-50756916	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565309969	chr15:50756925-50756926	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs148522021	chr15:50756934-50756935	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs191205871	chr15:50757037-50757038	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs183501666	chr15:50757038-50757039	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs559859372	chr15:50757068-50757069	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs11070782	chr15:50757081-50757082	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs115960315	chr15:50757085-50757086	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs187556214	chr15:50757133-50757134	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs569394899	chr15:50757166-50757167	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs111436375	chr15:50757167-50757168	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs112229237	chr15:50757193-50757194	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs574797475	chr15:50757225-50757226	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs372025842	chr15:50757226-50757227	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs554011345	chr15:50757227-50757228	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs375755044	chr15:50757263-50757264	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs534878262	chr15:50757266-50757267	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs200067725	chr15:50757273-50757274	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs572385653	chr15:50757277-50757278	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs368365577	chr15:50757280-50757281	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs147742292	chr15:50757285-50757286	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs568390027	chr15:50757305-50757306	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs150245386	chr15:50757336-50757337	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs199774545	chr15:50757343-50757344	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs375828318	chr15:50757345-50757346	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs140695550	chr15:50757361-50757362	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs35409493	chr15:50757432-50757433	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs543958698	chr15:50757488-50757489	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs558960240	chr15:50757543-50757544	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs79282925	chr15:50757552-50757553	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs546352284	chr15:50757556-50757557	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs541666524	chr15:50757600-50757601	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs186721843	chr15:50757711-50757712	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs144646112	chr15:50757713-50757714	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs3131568	chr15:50757721-50757722	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548791173	chr15:50757746-50757747	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs530487261	chr15:50757762-50757763	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs192795943	chr15:50757869-50757870	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs561611749	chr15:50757893-50757894	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs184746239	chr15:50757913-50757914	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs570412243	chr15:50757917-50757918	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs3131567	chr15:50757930-50757931	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114296333	chr15:50757960-50757961	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs192739086	chr15:50758140-50758141	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs184242565	chr15:50758164-50758165	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs189050091	chr15:50758210-50758211	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
3	chr15:50717800-50758800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:50718000-50757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:50722800-50764600	Weak transcription	Esophagus	oesophagus
6	chr15:50724800-50764600	Weak transcription	Pancreas	Pancrea
7	chr15:50733400-50785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:50733600-50758200	Weak transcription	HMEC	breast
9	chr15:50733600-50758800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr15:50734000-50763200	Weak transcription	Brain Anterior Caudate	brain
11	chr15:50734000-50776400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:50734000-50785600	Weak transcription	Fetal Brain Male	brain
13	chr15:50734600-50772600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:50735400-50764600	Weak transcription	Psoas Muscle	Psoas
15	chr15:50735600-50773000	Weak transcription	Brain Substantia Nigra	brain
16	chr15:50736200-50758600	Weak transcription	Right Ventricle	heart
17	chr15:50737200-50764800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:50737400-50756800	Weak transcription	NHEK	skin
19	chr15:50738200-50796800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:50740200-50777200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr15:50740800-50770200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:50741800-50797000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:50742400-50760000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr15:50742600-50760000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:50744000-50782400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:50744000-50789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:50745400-50771200	Weak transcription	NHLF	lung
28	chr15:50745600-50773800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr15:50746200-50761000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:50746200-50794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr15:50746400-50767200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:50747000-50759000	Weak transcription	Fetal Kidney	kidney
33	chr15:50747600-50764600	Weak transcription	Aorta	Aorta
34	chr15:50747600-50764600	Weak transcription	Gastric	stomach
35	chr15:50747800-50763600	Weak transcription	Brain Angular Gyrus	brain
36	chr15:50747800-50763600	Weak transcription	Brain Germinal Matrix	brain
37	chr15:50747800-50772800	Weak transcription	Brain Hippocampus Middle	brain
38	chr15:50748000-50768200	Weak transcription	HUVEC	blood vessel
39	chr15:50748200-50770800	Weak transcription	Fetal Brain Female	brain
40	chr15:50748400-50773000	Weak transcription	Colonic Mucosa	Colon
41	chr15:50748400-50782400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:50748400-50785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:50749200-50757400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:50750000-50794400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr15:50750200-50759600	Strong transcription	HSMM	muscle
46	chr15:50750400-50757000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:50750400-50777000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:50750600-50766600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr15:50750800-50775200	Strong transcription	Fetal Intestine Large	intestine
50	chr15:50751000-50760000	Strong transcription	Rectal Mucosa Donor 31	rectum

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