Variant report

Variant	nsv961226
Chromosome Location	chr19:44530539-44531310
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	chr19:44530888-44531128	A549	lung:	n/a	chr19:44530999-44531010 chr19:44530997-44531008
2	CEBPB	chr19:44530832-44531162	Hela-S3	cervix:	n/a	chr19:44530999-44531010 chr19:44530997-44531008
3	CEBPB	chr19:44530829-44531149	HepG2	liver:	n/a	chr19:44530999-44531010 chr19:44530997-44531008
4	CEBPB	chr19:44530788-44531139	MCF-7	breast:	n/a	chr19:44530999-44531010 chr19:44530997-44531008
5	CEBPB	chr19:44530794-44531205	MCF-7	breast:	n/a	chr19:44530999-44531010 chr19:44530997-44531008
6	CEBPB	chr19:44530873-44531104	K562	blood:	n/a	chr19:44530999-44531010 chr19:44530997-44531008
7	CHD1	chr19:44531142-44531146	GM12878	blood:	n/a	n/a
8	FOXA2	chr19:44530846-44531093	HepG2	liver:	n/a	n/a
9	GABPA	chr19:44530795-44530912	HepG2	liver:	n/a	n/a
10	GATA3	chr19:44530745-44531239	MCF-7	breast:	n/a	n/a
11	GATA3	chr19:44530833-44531189	MCF-7	breast:	n/a	n/a
12	HEY1	chr19:44530752-44531084	HepG2	liver:	n/a	n/a
13	HEY1	chr19:44530773-44530937	HepG2	liver:	n/a	n/a
14	MXI1	chr19:44528791-44530560	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr19:44530776-44530949	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr19:44530782-44530940	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:44530854-44530874	K562	blood:	n/a	n/a
18	POLR2A	chr19:44530791-44530967	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:44530788-44530961	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr19:44530855-44530893	HepG2	liver:	n/a	n/a
21	SIX5	chr19:44530742-44530870	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44529555..44531861-chr19:44550598..44553119,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267144	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559541993	chr19:44530560-44530561	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs539326549	chr19:44530574-44530575	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576878105	chr19:44530585-44530586	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190870496	chr19:44530631-44530632	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145011460	chr19:44530681-44530682	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572423974	chr19:44530690-44530691	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201405933	chr19:44530692-44530693	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117412773	chr19:44530694-44530695	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs36010337	chr19:44530696-44530697	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563220252	chr19:44530698-44530699	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530553083	chr19:44530700-44530701	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540736672	chr19:44530708-44530709	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202172451	chr19:44530709-44530710	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576224450	chr19:44530710-44530711	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545311014	chr19:44530711-44530712	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564705814	chr19:44530712-44530713	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200711054	chr19:44530719-44530720	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182627701	chr19:44530747-44530748	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs11083734	chr19:44530791-44530792	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs528463957	chr19:44530871-44530872	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs188144446	chr19:44530912-44530913	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529815670	chr19:44530922-44530923	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs367758444	chr19:44530994-44530995	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs550356610	chr19:44531009-44531010	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs150256754	chr19:44531018-44531019	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs138995284	chr19:44531061-44531062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs73933982	chr19:44531083-44531084	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142251814	chr19:44531106-44531107	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs73554199	chr19:44531132-44531133	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145932124	chr19:44531140-44531141	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs190151299	chr19:44531141-44531142	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369208793	chr19:44531147-44531148	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs374973402	chr19:44531151-44531152	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs537165862	chr19:44531181-44531182	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs1063264	chr19:44531205-44531206	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs139821519	chr19:44531223-44531224	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs200027663	chr19:44531239-44531240	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs544960310	chr19:44531260-44531261	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139236444	chr19:44531264-44531265	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528737195	chr19:44531265-44531266	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149989934	chr19:44531276-44531277	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145224236	chr19:44531286-44531287	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201957187	chr19:44531290-44531291	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529914708	chr19:44531309-44531310	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44528800-44530600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:44528800-44530600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr19:44528800-44530600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:44528800-44530600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:44528800-44530600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr19:44528800-44530600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:44528800-44530600	Active TSS	Brain Angular Gyrus	brain
8	chr19:44528800-44530600	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr19:44529000-44530600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:44529000-44530600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:44529000-44530600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr19:44529200-44530600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:44529200-44530600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr19:44529200-44530600	Active TSS	A549	lung
15	chr19:44529400-44530600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr19:44529400-44530600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:44529400-44530600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:44529400-44530600	Active TSS	Duodenum Mucosa	Duodenum
19	chr19:44529400-44530600	Active TSS	GM12878-XiMat	blood
20	chr19:44529400-44530600	Active TSS	HMEC	breast
21	chr19:44529600-44530600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr19:44529800-44530600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr19:44529800-44530600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr19:44529800-44530600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:44529800-44530600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:44529800-44530600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:44529800-44530600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr19:44529800-44530600	Flanking Active TSS	Liver	Liver
29	chr19:44529800-44530600	Flanking Active TSS	Fetal Brain Male	brain
30	chr19:44529800-44530600	Flanking Active TSS	Fetal Brain Female	brain
31	chr19:44529800-44530600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr19:44529800-44530600	Flanking Active TSS	Thymus	Thymus
33	chr19:44529800-44530600	Flanking Active TSS	HUVEC	blood vessel
34	chr19:44529800-44530600	Flanking Active TSS	NH-A	brain
35	chr19:44530000-44530600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr19:44530000-44530600	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr19:44530000-44530600	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr19:44530000-44530600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr19:44530000-44530600	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr19:44530000-44530600	Enhancers	Stomach Mucosa	stomach
41	chr19:44530000-44530600	Flanking Active TSS	Dnd41	blood
42	chr19:44530000-44530600	Flanking Active TSS	NHEK	skin
43	chr19:44530000-44530600	Flanking Active TSS	Osteobl	bone
44	chr19:44530200-44530600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:44530200-44530600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:44530200-44530600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:44530200-44530600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:44530200-44530600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr19:44530200-44530600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:44530200-44530600	Enhancers	Primary B cells from peripheral blood	blood

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