Variant report

Variant	esv3443774
Chromosome Location	chr15:50784906-50786389
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	MAFK	chr15:50784762-50785176	HepG2	liver:	n/a	chr15:50784856-50784867 chr15:50784857-50784868 chr15:50784857-50784868
2	POLR2A	chr15:50785470-50785562	K562	blood:	n/a	n/a
3	POLR2A	chr15:50784951-50785050	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr15:50785026-50785262	K562	blood:	n/a	n/a
5	POLR2A	chr15:50785150-50785155	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:50785808-50786100	MCF-7	breast:	n/a	n/a
7	POLR2A	chr15:50786083-50786159	ProgFib	skin:	n/a	n/a
8	POLR2A	chr15:50785851-50786242	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50646468..50650762-chr15:50786083..50789645,4	K562	blood:
2	chr15:50646598..50648550-chr15:50782199..50785189,3	K562	blood:
3	chr15:50645564..50647372-chr15:50783247..50786142,2	MCF-7	breast:
4	chr15:50647443..50649396-chr15:50783549..50786868,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP50-2	chr15:50786215-50786327	ENSG00000259618.1

Variant related genes	Relation type
USP8	TF binding region
ENSG00000104064	chromatin interactions
ENSG00000244879	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78143971	chr15:50784950-50784951	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs74840283	chr15:50784955-50784956	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs138490617	chr15:50784958-50784959	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs144130206	chr15:50784960-50784961	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs371064052	chr15:50784983-50784984	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs146125856	chr15:50784990-50784991	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs187703744	chr15:50784994-50784995	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs148783236	chr15:50785016-50785017	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs150760397	chr15:50785034-50785035	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs199814360	chr15:50785054-50785055	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs375680554	chr15:50785067-50785068	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs374802467	chr15:50785093-50785094	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs377751496	chr15:50785155-50785156	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs371468006	chr15:50785158-50785159	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs564138695	chr15:50785182-50785183	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs528332830	chr15:50785198-50785199	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs142336644	chr15:50785259-50785260	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs559823783	chr15:50785273-50785274	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530018572	chr15:50785282-50785283	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548190791	chr15:50785288-50785289	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs569984865	chr15:50785302-50785303	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560150015	chr15:50785346-50785347	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531112830	chr15:50785364-50785365	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552312525	chr15:50785452-50785453	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs570643231	chr15:50785463-50785464	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546827517	chr15:50785598-50785599	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs192342330	chr15:50785605-50785606	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs150860422	chr15:50785608-50785609	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368471373	chr15:50785635-50785636	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs552778236	chr15:50785697-50785698	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs139242412	chr15:50785710-50785711	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs145370497	chr15:50785719-50785720	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557001507	chr15:50785754-50785755	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs575571465	chr15:50785761-50785762	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546113190	chr15:50785780-50785781	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370263683	chr15:50785890-50785891	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs558082065	chr15:50785891-50785892	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs552762833	chr15:50785939-50785940	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs112084651	chr15:50785940-50785941	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs540452928	chr15:50786018-50786019	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs16963739	chr15:50786024-50786025	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs118102326	chr15:50786038-50786039	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs563350531	chr15:50786048-50786049	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs530853458	chr15:50786058-50786059	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs147633049	chr15:50786066-50786067	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs571158748	chr15:50786083-50786084	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs528645091	chr15:50786166-50786167	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs372285761	chr15:50786168-50786169	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs182445055	chr15:50786206-50786207	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs368423333	chr15:50786236-50786237	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50733400-50785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:50734000-50785600	Weak transcription	Fetal Brain Male	brain
3	chr15:50738200-50796800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:50741800-50797000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:50744000-50789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:50746200-50794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr15:50748400-50785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:50750000-50794400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr15:50751000-50792400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:50751000-50796600	Strong transcription	Fetal Thymus	thymus
11	chr15:50754400-50797000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:50756000-50785200	Weak transcription	Small Intestine	intestine
13	chr15:50756600-50785000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:50756600-50795800	Strong transcription	Adipose Nuclei	Adipose
15	chr15:50757000-50796600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:50757000-50796800	Strong transcription	Liver	Liver
17	chr15:50761800-50794000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:50762400-50794000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:50763000-50795800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:50763600-50796200	Strong transcription	Primary T cells from cord blood	blood
21	chr15:50764800-50785200	Weak transcription	Esophagus	oesophagus
22	chr15:50764800-50787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:50767400-50785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:50768000-50796800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:50768200-50794000	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:50768400-50797000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr15:50768400-50797000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:50768800-50796000	Strong transcription	Hela-S3	cervix
29	chr15:50770200-50794000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr15:50771200-50796000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:50772400-50796000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:50772800-50796000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:50773400-50785200	Weak transcription	Aorta	Aorta
34	chr15:50774200-50797600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr15:50774400-50785200	Weak transcription	Brain Angular Gyrus	brain
36	chr15:50775600-50795400	Weak transcription	Stomach Mucosa	stomach
37	chr15:50776000-50796000	Strong transcription	Fetal Intestine Large	intestine
38	chr15:50776400-50789400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:50776400-50792400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:50776400-50796000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:50777000-50796000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:50777200-50791600	Strong transcription	Fetal Muscle Leg	muscle
43	chr15:50777400-50796000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:50777800-50789200	Strong transcription	Fetal Stomach	stomach
45	chr15:50777800-50789600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:50778200-50786600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:50778400-50796800	Strong transcription	Primary B cells from cord blood	blood
48	chr15:50778800-50796000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr15:50779200-50795400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr15:50779400-50786400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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