Variant report

Variant	nsv974581
Chromosome Location	chr15:57538491-57540100
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	chr15:57539090-57539122	Medullo	brain:	n/a	n/a
2	EP300	chr15:57539746-57541734	SK-N-SH	brain:	n/a	chr15:57540774-57540788
3	POLR2A	chr15:57539932-57540047	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:57539421-57539506	Gliobla	brain:	n/a	n/a
5	POLR2A	chr15:57539412-57539491	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:57539390-57539490	A549	lung:	n/a	n/a
7	STAT3	chr15:57539374-57539494	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57539799..57542087-chr15:57542689..57545478,3	K562	blood:
2	chr15:57519601..57521233-chr15:57537567..57539134,2	K562	blood:

Variant related genes	Relation type
HNRNPA3P11	TF binding region
TCF12	TF binding region
ENSG00000140262	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191926672	chr15:57538520-57538521	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142785851	chr15:57538542-57538543	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534275222	chr15:57538546-57538547	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554857258	chr15:57538555-57538556	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533119904	chr15:57538606-57538607	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536867824	chr15:57538616-57538617	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556772500	chr15:57538660-57538661	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540157361	chr15:57538677-57538678	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576620430	chr15:57538686-57538687	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183800305	chr15:57538706-57538707	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558735608	chr15:57538707-57538708	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572416111	chr15:57538731-57538732	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5812875	chr15:57538740-57538741	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397935060	chr15:57538741-57538742	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs898901	chr15:57538765-57538766	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs566411133	chr15:57538766-57538767	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74753167	chr15:57538773-57538774	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561649854	chr15:57538783-57538784	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs935328	chr15:57538801-57538802	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544110724	chr15:57538811-57538812	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563910713	chr15:57538812-57538813	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148746077	chr15:57538813-57538814	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187445737	chr15:57538870-57538871	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115203972	chr15:57538871-57538872	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559143832	chr15:57538927-57538928	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528102792	chr15:57538966-57538967	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547847247	chr15:57538990-57538991	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142300277	chr15:57538996-57538997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536990547	chr15:57539014-57539015	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550458762	chr15:57539069-57539070	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569039460	chr15:57539070-57539071	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570317603	chr15:57539143-57539144	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539209970	chr15:57539148-57539149	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559029290	chr15:57539149-57539150	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572423087	chr15:57539184-57539185	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17239459	chr15:57539254-57539255	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs376461323	chr15:57539280-57539281	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574875389	chr15:57539290-57539291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192039514	chr15:57539306-57539307	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563923100	chr15:57539310-57539311	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577522442	chr15:57539344-57539345	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529197033	chr15:57539345-57539346	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200909616	chr15:57539351-57539352	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376622719	chr15:57539352-57539353	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559420140	chr15:57539358-57539359	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144660254	chr15:57539364-57539365	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12904634	chr15:57539366-57539367	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548258935	chr15:57539367-57539368	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561394031	chr15:57539376-57539377	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs530379770	chr15:57539421-57539422	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57511800-57551600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:57511800-57565000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:57519600-57544600	Weak transcription	Psoas Muscle	Psoas
4	chr15:57520400-57576000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:57520800-57544600	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:57522400-57565400	Weak transcription	Spleen	Spleen
7	chr15:57522800-57585000	Strong transcription	Fetal Thymus	thymus
8	chr15:57524400-57540600	Strong transcription	Primary T cells from cord blood	blood
9	chr15:57525600-57556800	Weak transcription	Pancreas	Pancrea
10	chr15:57526000-57539000	Weak transcription	Gastric	stomach
11	chr15:57526000-57539200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:57526000-57539200	Weak transcription	Lung	lung
13	chr15:57526000-57542600	Weak transcription	Right Ventricle	heart
14	chr15:57526000-57550200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:57526400-57539200	Weak transcription	Aorta	Aorta
16	chr15:57526600-57539000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:57526600-57545400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:57526600-57554400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:57526600-57574200	Weak transcription	Hela-S3	cervix
20	chr15:57526800-57545400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:57526800-57554200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr15:57528200-57545200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr15:57528400-57538600	Weak transcription	Ovary	ovary
24	chr15:57528400-57545400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:57528400-57554800	Weak transcription	NHEK	skin
26	chr15:57528600-57539000	Weak transcription	A549	lung
27	chr15:57529000-57538600	Weak transcription	Placenta	Placenta
28	chr15:57529000-57545400	Weak transcription	HMEC	breast
29	chr15:57529400-57543400	Weak transcription	HUVEC	blood vessel
30	chr15:57529600-57540000	Weak transcription	Fetal Heart	heart
31	chr15:57529800-57538600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr15:57530200-57543400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:57530800-57551200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:57531000-57542400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:57531400-57541200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr15:57531600-57540200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:57533600-57568800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr15:57535000-57539600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:57535000-57540000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:57535000-57541200	Strong transcription	NH-A	brain
41	chr15:57535200-57540000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr15:57535200-57542600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:57535400-57540000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:57535400-57540000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:57535600-57539600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:57535600-57539600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:57535600-57539800	Strong transcription	Adipose Nuclei	Adipose
48	chr15:57535600-57540200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:57535600-57540200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr15:57535600-57540200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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