Variant report

Variant	nsv984062
Chromosome Location	chr15:43430647-43433356
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	CEBPB	chr15:43432153-43432389	IMR90	lung:	n/a	chr15:43432295-43432306 chr15:43432293-43432304 chr15:43432295-43432304
2	CEBPB	chr15:43432127-43432428	HepG2	liver:	n/a	chr15:43432295-43432306 chr15:43432293-43432304 chr15:43432295-43432304
3	CEBPB	chr15:43432215-43432445	K562	blood:	n/a	chr15:43432295-43432306 chr15:43432293-43432304 chr15:43432295-43432304
4	CEBPB	chr15:43432235-43432397	Hela-S3	cervix:	n/a	chr15:43432295-43432306 chr15:43432293-43432304 chr15:43432295-43432304
5	HEY1	chr15:43432394-43432594	K562	blood:	n/a	n/a
6	MAFK	chr15:43431218-43431241	HepG2	liver:	n/a	n/a
7	MYC	chr15:43431234-43431309	K562	blood:	n/a	n/a
8	POLR2A	chr15:43433174-43433323	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr15:43432938-43433333	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:43432978-43433362	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:43431371-43433725	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:43431725-43434446	GM12891	blood:	n/a	n/a
13	POLR2A	chr15:43432100-43432239	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr15:43433340-43433537	K562	blood:	n/a	n/a
15	POLR2A	chr15:43432998-43433006	HepG2	liver:	n/a	n/a
16	POLR2A	chr15:43429701-43430653	GM12892	blood:	n/a	n/a
17	POLR2A	chr15:43432184-43434240	GM12892	blood:	n/a	n/a
18	POLR2A	chr15:43430294-43430695	GM12891	blood:	n/a	n/a
19	POLR2A	chr15:43432571-43433872	GM12891	blood:	n/a	n/a
20	POLR2A	chr15:43430455-43430656	K562	blood:	n/a	n/a
21	POLR2A	chr15:43431866-43432273	GM12892	blood:	n/a	n/a
22	POLR2A	chr15:43432384-43434315	GM12892	blood:	n/a	n/a
23	POLR2A	chr15:43431285-43432173	GM12892	blood:	n/a	n/a
24	POLR2A	chr15:43431809-43432138	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:43430200-43430668	GM12892	blood:	n/a	n/a
26	POLR2A	chr15:43433067-43433356	GM12891	blood:	n/a	n/a
27	POLR2A	chr15:43432680-43432971	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr15:43432353-43432438	K562	blood:	n/a	n/a
29	POLR2A	chr15:43431347-43433744	GM12878	blood:	n/a	n/a
30	POLR2A	chr15:43433015-43433342	K562	blood:	n/a	n/a
31	POLR2A	chr15:43432281-43432302	K562	blood:	n/a	n/a
32	POLR2A	chr15:43432474-43432592	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr15:43430215-43430716	GM12891	blood:	n/a	n/a
34	POLR2A	chr15:43432906-43433453	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:43431588-43433548	GM12891	blood:	n/a	n/a
36	POLR2A	chr15:43429764-43430697	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:43429592-43430712	GM12878	blood:	n/a	n/a
38	POLR2A	chr15:43433189-43433292	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr15:43429671-43430726	GM12892	blood:	n/a	n/a
40	POLR2A	chr15:43432220-43434196	GM12892	blood:	n/a	n/a
41	POLR2A	chr15:43432750-43432819	HepG2	liver:	n/a	n/a
42	POLR2A	chr15:43431540-43432131	GM12892	blood:	n/a	n/a
43	POLR2A	chr15:43431735-43432570	GM12891	blood:	n/a	n/a
44	POLR2A	chr15:43431787-43434290	GM12892	blood:	n/a	n/a
45	POLR2A	chr15:43432629-43432745	HepG2	liver:	n/a	n/a
46	POLR2A	chr15:43432830-43433000	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:43429691..43433219-chr15:43435573..43439921,4	K562	blood:
2	chr15:43339146..43340895-chr15:43431393..43434266,2	K562	blood:
3	chr15:43425606..43428403-chr15:43431821..43436252,4	K562	blood:
4	chr15:43425686..43428032-chr15:43428603..43431679,3	K562	blood:
5	chr15:43424687..43428034-chr15:43433131..43438698,7	K562	blood:

Variant related genes	Relation type
TMEM62	TF binding region
ENSG00000137842	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189895396	chr15:43430648-43430649	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529418637	chr15:43430657-43430658	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549449585	chr15:43430683-43430684	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559940960	chr15:43430706-43430707	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376908713	chr15:43430749-43430750	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201194988	chr15:43430767-43430768	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555772767	chr15:43430779-43430780	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143934083	chr15:43430805-43430806	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367839931	chr15:43430821-43430822	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370328301	chr15:43430830-43430831	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552084363	chr15:43430843-43430844	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373632569	chr15:43430847-43430848	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372655016	chr15:43430870-43430871	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs117093529	chr15:43430934-43430935	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs151026096	chr15:43430969-43430970	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550176275	chr15:43431008-43431009	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566881905	chr15:43431059-43431060	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141100789	chr15:43431067-43431068	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552784458	chr15:43431200-43431201	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188865734	chr15:43431236-43431237	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150283723	chr15:43431281-43431282	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149797946	chr15:43431313-43431314	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374976079	chr15:43431316-43431317	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576902825	chr15:43431363-43431364	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575628554	chr15:43431403-43431404	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544481072	chr15:43431602-43431603	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553555355	chr15:43431609-43431610	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554140521	chr15:43431638-43431639	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112027002	chr15:43431845-43431846	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562386788	chr15:43431852-43431853	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557392191	chr15:43431868-43431869	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572217423	chr15:43431980-43431981	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572791034	chr15:43432029-43432030	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574077227	chr15:43432052-43432053	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs62019366	chr15:43432128-43432129	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559575650	chr15:43432148-43432149	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147955007	chr15:43432167-43432168	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141790841	chr15:43432220-43432221	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561062927	chr15:43432270-43432271	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76871119	chr15:43432271-43432272	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs78219980	chr15:43432277-43432278	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78456592	chr15:43432298-43432299	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550859513	chr15:43432331-43432332	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566964288	chr15:43432359-43432360	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147083399	chr15:43432373-43432374	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191698433	chr15:43432376-43432377	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377128793	chr15:43432411-43432412	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138025526	chr15:43432414-43432415	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538694325	chr15:43432438-43432439	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558485480	chr15:43432452-43432453	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	20164920	CNVD
Hodgkin''s lymphoma	18641027	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

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43426600-43442200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:43426800-43431400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:43426800-43431600	Weak transcription	Brain Angular Gyrus	brain
4	chr15:43426800-43433000	Weak transcription	A549	lung
5	chr15:43426800-43433000	Weak transcription	HSMM	muscle
6	chr15:43426800-43433400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:43426800-43436400	Weak transcription	Primary T cells from cord blood	blood
8	chr15:43426800-43455800	Weak transcription	Fetal Lung	lung
9	chr15:43426800-43465400	Weak transcription	Psoas Muscle	Psoas
10	chr15:43427000-43431200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:43427000-43440600	Weak transcription	Fetal Heart	heart
12	chr15:43427000-43442200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:43427000-43442200	Weak transcription	NH-A	brain
14	chr15:43427200-43431400	Weak transcription	NHLF	lung
15	chr15:43427200-43432400	Weak transcription	HUVEC	blood vessel
16	chr15:43427200-43432400	Weak transcription	NHEK	skin
17	chr15:43427200-43433200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:43427200-43436200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:43427200-43436400	Weak transcription	K562	blood
20	chr15:43427400-43431200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:43427400-43431400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:43427600-43432800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:43427600-43434200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:43427600-43434400	Strong transcription	Primary B cells from cord blood	blood
25	chr15:43427600-43475000	Weak transcription	Stomach Mucosa	stomach
26	chr15:43427800-43431800	Weak transcription	Small Intestine	intestine
27	chr15:43427800-43432600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr15:43427800-43434000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:43427800-43434600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:43427800-43435000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr15:43427800-43435600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:43427800-43435600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr15:43427800-43448400	Weak transcription	Fetal Kidney	kidney
34	chr15:43428000-43433800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:43428000-43445600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:43428200-43433600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:43428200-43433800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr15:43428200-43434000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:43428200-43434200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:43428400-43432600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:43428400-43433000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr15:43428400-43433800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:43428400-43433800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr15:43428400-43434000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:43428400-43434200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr15:43428400-43434200	Strong transcription	Fetal Intestine Large	intestine
47	chr15:43428400-43435200	Strong transcription	Liver	Liver
48	chr15:43428600-43433000	Strong transcription	Fetal Intestine Small	intestine
49	chr15:43428600-43433400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:43428600-43433400	Strong transcription	Ovary	ovary

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