Variant report

Variant	nsv522996
Chromosome Location	chr15:79175813-79192416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:246)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

(count:246 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:79189901-79189918	GM10266	blood:	n/a	n/a
2	CTCF	chr15:79192080-79192230	HPF	lung:	n/a	n/a
3	CUX1	chr15:79187318-79187518	K562	blood:	n/a	n/a
4	EP300	chr15:79186148-79186269	GM12878	blood:	n/a	n/a
5	EP300	chr15:79179406-79179412	K562	blood:	n/a	n/a
6	GATA3	chr15:79183350-79183546	SH-SY5Y	brain:	n/a	n/a
7	GTF2F1	chr15:79192107-79192233	H1-hESC	embryonic stem cell:	n/a	n/a
8	IRF1	chr15:79178168-79178171	K562	blood:	n/a	n/a
9	IRF1	chr15:79186210-79186263	K562	blood:	n/a	n/a
10	MAFK	chr15:79186166-79186366	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:79192160-79192230	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr15:79183013-79183019	ProgFib	skin:	n/a	n/a
13	POLR2A	chr15:79189187-79189529	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:79180242-79180996	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr15:79186771-79187538	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:79182888-79183204	MCF-7	breast:	n/a	n/a
17	POLR2A	chr15:79180897-79181094	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:79191745-79191990	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr15:79179390-79179422	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr15:79191061-79191323	HepG2	liver:	n/a	n/a
21	POLR2A	chr15:79180345-79181144	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr15:79186252-79186685	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:79180925-79181075	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr15:79175424-79176280	K562	blood:	n/a	n/a
25	POLR2A	chr15:79190695-79191253	GM12892	blood:	n/a	n/a
26	POLR2A	chr15:79184872-79184938	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr15:79183746-79184125	A549	lung:	n/a	n/a
28	POLR2A	chr15:79189970-79191523	HepG2	liver:	n/a	n/a
29	POLR2A	chr15:79191641-79192479	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr15:79191894-79191925	MCF-7	breast:	n/a	n/a
31	POLR2A	chr15:79186090-79186431	HepG2	liver:	n/a	n/a
32	POLR2A	chr15:79190800-79191137	GM12892	blood:	n/a	n/a
33	POLR2A	chr15:79188663-79188910	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:79191729-79191974	K562	blood:	n/a	n/a
35	POLR2A	chr15:79187879-79188096	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr15:79190848-79191173	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr15:79180661-79180827	K562	blood:	n/a	n/a
38	POLR2A	chr15:79179818-79180102	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr15:79182292-79182358	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr15:79181446-79181950	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr15:79189976-79191286	GM12878	blood:	n/a	n/a
42	POLR2A	chr15:79180560-79180578	HepG2	liver:	n/a	n/a
43	POLR2A	chr15:79180412-79180425	K562	blood:	n/a	n/a
44	POLR2A	chr15:79180416-79180425	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr15:79182365-79182472	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr15:79192265-79192272	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr15:79177675-79177887	MCF-7	breast:	n/a	n/a
48	POLR2A	chr15:79177105-79184603	HepG2	liver:	n/a	n/a
49	POLR2A	chr15:79186790-79187568	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr15:79190678-79191237	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:79169953..79171681-chr15:79182781..79184676,2	K562	blood:
2	chr15:79165643..79168344-chr15:79184268..79185972,2	K562	blood:
3	chr15:79187118..79189482-chr15:79197270..79200003,2	K562	blood:
4	chr15:79178241..79180830-chr15:79187256..79189052,2	MCF-7	breast:
5	chr15:79168424..79170756-chr15:79176616..79179501,2	MCF-7	breast:
6	chr15:79187626..79190425-chr15:79194469..79197104,2	MCF-7	breast:
7	chr15:79164147..79167807-chr15:79181870..79184969,5	MCF-7	breast:
8	chr15:79184968..79187171-chr15:79188887..79190522,3	K562	blood:
9	chr15:79164137..79170280-chr15:79189650..79200289,14	K562	blood:
10	chr15:79184024..79186869-chr15:79190728..79193299,2	MCF-7	breast:
11	chr15:79183002..79185046-chr15:79186692..79189634,2	MCF-7	breast:
12	chr15:79184968..79187171-chr15:79188887..79190522,3	K562	blood:
13	chr15:79164165..79169196-chr15:79177186..79180776,6	MCF-7	breast:
14	chr15:79186603..79187544-chr9:35072224..35073022,2	NB4	blood:
15	chr15:79186010..79188154-chr15:79194170..79196835,2	K562	blood:
16	chr15:79166781..79169247-chr15:79192371..79193935,2	K562	blood:
17	chr15:79178241..79180830-chr15:79187256..79189052,2	MCF-7	breast:

No data

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MORF4L1	hsa-miR-222-3p	chr15:79189983-79190002
2	MORF4L1	hsa-miR-29c-3p	chr15:79189827-79189848
3	MORF4L1	hsa-miR-142-3p	chr15:79189700-79189722
4	MORF4L1	hsa-miR-142-3p	chr15:79189715-79189721
5	MORF4L1	hsa-miR-29c-3p	chr15:79189912-79189934
6	MORF4L1	hsa-miR-9-5p	chr15:79189762-79189782
7	MORF4L1	hsa-miR-16-5p	chr15:79189593-79189617

Variant related genes	Relation type
MORF4L1	TF binding region
RNU6-415P	TF binding region
ENSG00000165280	chromatin interactions
ENSG00000185787	chromatin interactions
ENSG00000252061	chromatin interactions

Extended variants
information (count: 871 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:871 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8025166	chr15:79175813-79175814	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571956939	chr15:79175814-79175815	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534241789	chr15:79175834-79175835	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533956752	chr15:79175843-79175844	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188308637	chr15:79175849-79175850	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565416189	chr15:79175886-79175887	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76346498	chr15:79175934-79175935	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535492735	chr15:79175941-79175942	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555160027	chr15:79175974-79175975	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148797635	chr15:79175980-79175981	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180868647	chr15:79175985-79175986	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527765961	chr15:79176017-79176018	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577478221	chr15:79176027-79176028	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540177388	chr15:79176037-79176038	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560447122	chr15:79176056-79176057	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573944665	chr15:79176084-79176085	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142436490	chr15:79176113-79176114	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147776321	chr15:79176124-79176125	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141098250	chr15:79176160-79176161	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145160614	chr15:79176169-79176170	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187393620	chr15:79176174-79176175	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559749232	chr15:79176184-79176185	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190582438	chr15:79176215-79176216	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369546015	chr15:79176221-79176222	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547784744	chr15:79176236-79176237	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567989379	chr15:79176292-79176293	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147584755	chr15:79176295-79176296	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113265118	chr15:79176322-79176323	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368102394	chr15:79176339-79176340	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537562717	chr15:79176346-79176347	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570182604	chr15:79176355-79176356	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371896102	chr15:79176375-79176376	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577762651	chr15:79176442-79176443	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs8027635	chr15:79176460-79176461	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530011253	chr15:79176500-79176501	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71451729	chr15:79176545-79176546	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201901919	chr15:79176549-79176550	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200115659	chr15:79176550-79176551	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368487101	chr15:79176551-79176552	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201298610	chr15:79176554-79176555	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181848562	chr15:79176580-79176581	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573909674	chr15:79176581-79176582	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74742334	chr15:79176582-79176583	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562888341	chr15:79176594-79176595	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115957851	chr15:79176683-79176684	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375980240	chr15:79176689-79176690	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532240737	chr15:79176694-79176695	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552325964	chr15:79176715-79176716	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545523424	chr15:79176717-79176718	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113542716	chr15:79176756-79176757	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 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
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79167000-79179200	Weak transcription	Esophagus	oesophagus
2	chr15:79167200-79178200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:79167800-79183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:79169400-79176400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:79169800-79180000	Weak transcription	Gastric	stomach
6	chr15:79170200-79187000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:79170400-79177200	Weak transcription	Colonic Mucosa	Colon
8	chr15:79170400-79198600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:79170600-79176000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr15:79170600-79182400	Weak transcription	Aorta	Aorta
11	chr15:79170600-79183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:79170800-79178200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr15:79170800-79192400	Weak transcription	Stomach Mucosa	stomach
14	chr15:79171000-79177200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:79171000-79177200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:79171000-79179000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:79171200-79199600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr15:79171200-79199800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:79171200-79215600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:79171600-79180400	Weak transcription	Small Intestine	intestine
21	chr15:79171600-79199600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr15:79171600-79200400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr15:79171800-79178000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr15:79171800-79207800	Strong transcription	Fetal Thymus	thymus
25	chr15:79172000-79178600	Weak transcription	Spleen	Spleen
26	chr15:79172000-79185200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:79172000-79200200	Strong transcription	HUVEC	blood vessel
28	chr15:79172000-79202800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:79172200-79176200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:79172200-79176400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:79172200-79179600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:79172200-79197600	Strong transcription	Placenta	Placenta
33	chr15:79172200-79199600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:79172200-79200200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr15:79172200-79207000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr15:79172400-79177200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr15:79172400-79177200	Weak transcription	Brain Substantia Nigra	brain
38	chr15:79172400-79200000	Strong transcription	Fetal Intestine Large	intestine
39	chr15:79172400-79216200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:79172600-79176200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:79172600-79177200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr15:79172600-79182400	Strong transcription	Primary B cells from cord blood	blood
43	chr15:79172600-79201800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr15:79172600-79207400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:79172800-79176600	Strong transcription	K562	blood
46	chr15:79172800-79178600	Weak transcription	Right Ventricle	heart
47	chr15:79172800-79197800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:79172800-79199800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:79172800-79199800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:79172800-79202600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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