Variant report

Variant	nsv978828
Chromosome Location	chr19:44604903-44606655
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	POLR2A	chr19:44605328-44605484	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:44606269-44606859	K562	blood:	n/a	n/a
3	POLR2A	chr19:44604906-44605094	A549	lung:	n/a	n/a
4	POLR2A	chr19:44604885-44605016	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44604377..44606312-chr19:44609455..44611888,2	K562	blood:
2	chr19:44603386..44606385-chr19:44614662..44617472,2	K562	blood:
3	chr19:44594718..44596568-chr19:44606197..44607900,2	K562	blood:

Variant related genes	Relation type
ZNF224	TF binding region
ENSG00000267163	TF binding region
ENSG00000256294	chromatin interactions
ENSG00000265842	chromatin interactions
ENSG00000186019	chromatin interactions
ENSG00000267680	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180937671	chr19:44604908-44604909	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs62115526	chr19:44604914-44604915	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs572193063	chr19:44604931-44604932	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs371070960	chr19:44604972-44604973	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs150110361	chr19:44604974-44604975	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs112763415	chr19:44605090-44605091	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs199899348	chr19:44605109-44605110	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs367910766	chr19:44605110-44605111	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs4803676	chr19:44605123-44605124	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs202091044	chr19:44605129-44605130	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs560512570	chr19:44605140-44605141	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs529628207	chr19:44605166-44605167	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs185605612	chr19:44605177-44605178	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs190160147	chr19:44605214-44605215	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs145521645	chr19:44605289-44605290	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs374139895	chr19:44605301-44605302	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs371149650	chr19:44605306-44605307	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs537816526	chr19:44605320-44605321	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs118149610	chr19:44605324-44605325	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs368658685	chr19:44605325-44605326	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs571670969	chr19:44605335-44605336	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs201055240	chr19:44605345-44605346	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs541424307	chr19:44605355-44605356	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs112215538	chr19:44605357-44605358	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs368852127	chr19:44605364-44605365	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs372419676	chr19:44605379-44605380	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs112920452	chr19:44605383-44605384	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs369072079	chr19:44605419-44605420	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs371751518	chr19:44605423-44605424	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs553169934	chr19:44605441-44605442	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs12983807	chr19:44605461-44605462	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs572934269	chr19:44605477-44605478	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs535775555	chr19:44605542-44605543	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs555671428	chr19:44605576-44605577	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs575325899	chr19:44605580-44605581	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs544186421	chr19:44605624-44605625	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs141644693	chr19:44605702-44605703	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs557109709	chr19:44605707-44605708	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs150113789	chr19:44605716-44605717	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs539937280	chr19:44605749-44605750	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs576158819	chr19:44605750-44605751	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs560767138	chr19:44605787-44605788	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs113417504	chr19:44605795-44605796	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs549283681	chr19:44605808-44605809	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs369140955	chr19:44605811-44605812	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs78020486	chr19:44605837-44605838	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs531603746	chr19:44605884-44605885	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs182800866	chr19:44605885-44605886	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs571538365	chr19:44605903-44605904	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs186934585	chr19:44605905-44605906	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44599600-44608000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:44599600-44609000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:44599600-44610600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:44599600-44611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:44599800-44605000	Weak transcription	Small Intestine	intestine
6	chr19:44599800-44605000	Weak transcription	K562	blood
7	chr19:44599800-44605200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:44599800-44606000	Weak transcription	Fetal Heart	heart
9	chr19:44599800-44609200	Weak transcription	NHEK	skin
10	chr19:44599800-44610400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:44600000-44605400	Weak transcription	NHLF	lung
12	chr19:44600000-44610400	Weak transcription	Stomach Mucosa	stomach
13	chr19:44600200-44605000	Weak transcription	Colonic Mucosa	Colon
14	chr19:44600200-44605000	Weak transcription	HepG2	liver
15	chr19:44600400-44605400	Weak transcription	Hela-S3	cervix
16	chr19:44600400-44608200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:44600400-44610400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:44600400-44610600	Strong transcription	HSMM	muscle
19	chr19:44600400-44616200	ZNF genes & repeats	Liver	Liver
20	chr19:44600600-44605000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:44600600-44608600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:44600600-44608800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:44600800-44605800	Strong transcription	Fetal Lung	lung
24	chr19:44600800-44606200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr19:44600800-44607000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr19:44600800-44607000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr19:44600800-44607400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:44600800-44607600	Strong transcription	Fetal Intestine Large	intestine
29	chr19:44600800-44608000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:44600800-44608400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr19:44600800-44608600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:44600800-44609000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:44600800-44609000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr19:44600800-44609200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:44600800-44610400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:44600800-44610400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:44600800-44610600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:44600800-44610600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:44600800-44612800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:44600800-44614000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:44600800-44614600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:44601000-44605200	Strong transcription	Ovary	ovary
43	chr19:44601000-44605800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:44601000-44606000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr19:44601000-44606000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr19:44601000-44606600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr19:44601000-44608200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:44601000-44608200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:44601000-44608400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:44601000-44609000	Strong transcription	Left Ventricle	heart

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