Variant report

Variant	nsv526707
Chromosome Location	chr19:39845544-39849955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:39846773-39847257	K562	blood:	n/a	n/a
2	CHD2	chr19:39847309-39847468	K562	blood:	n/a	n/a
3	CTCF	chr19:39845760-39845910	GM12866	blood:	n/a	n/a
4	CUX1	chr19:39847187-39847372	K562	blood:	n/a	n/a
5	E2F6	chr19:39847316-39847588	K562	blood:	n/a	n/a
6	ELF1	chr19:39847188-39847557	K562	blood:	n/a	n/a
7	EP300	chr19:39846875-39847600	K562	blood:	n/a	n/a
8	HDAC2	chr19:39846784-39847270	K562	blood:	n/a	n/a
9	HMGN3	chr19:39847134-39847550	K562	blood:	n/a	n/a
10	IRF1	chr19:39847207-39847549	K562	blood:	n/a	chr19:39847336-39847350 chr19:39847229-39847239 chr19:39847281-39847288 chr19:39847225-39847239
11	IRF1	chr19:39846895-39847973	K562	blood:	n/a	chr19:39847336-39847350 chr19:39847229-39847239 chr19:39847281-39847288 chr19:39847225-39847239
12	JUND	chr19:39847280-39847489	K562	blood:	n/a	n/a
13	JUND	chr19:39846880-39847009	K562	blood:	n/a	n/a
14	MAFF	chr19:39846793-39847119	K562	blood:	n/a	n/a
15	MAFK	chr19:39846795-39847096	K562	blood:	n/a	n/a
16	MAX	chr19:39847063-39847967	K562	blood:	n/a	n/a
17	MAX	chr19:39847241-39847579	K562	blood:	n/a	n/a
18	MAX	chr19:39847270-39847903	K562	blood:	n/a	n/a
19	MAZ	chr19:39847209-39847553	K562	blood:	n/a	n/a
20	MAZ	chr19:39849613-39849618	Hela-S3	cervix:	n/a	n/a
21	MXI1	chr19:39847226-39847748	K562	blood:	n/a	n/a
22	MYC	chr19:39847366-39847393	K562	blood:	n/a	n/a
23	MYC	chr19:39846761-39847935	K562	blood:	n/a	n/a
24	MYC	chr19:39846798-39847979	K562	blood:	n/a	n/a
25	MYC	chr19:39847404-39847474	K562	blood:	n/a	n/a
26	MYC	chr19:39847213-39847800	K562	blood:	n/a	n/a
27	POLR2A	chr19:39845620-39845627	K562	blood:	n/a	n/a
28	POLR2A	chr19:39847295-39847834	K562	blood:	n/a	n/a
29	POLR2A	chr19:39847201-39847798	K562	blood:	n/a	n/a
30	POLR2A	chr19:39847030-39847212	HepG2	liver:	n/a	n/a
31	POLR2A	chr19:39847795-39847836	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr19:39846829-39846832	MCF-7	breast:	n/a	n/a
33	POLR2A	chr19:39846086-39846089	K562	blood:	n/a	n/a
34	POLR2A	chr19:39845868-39845904	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:39846892-39846945	MCF-7	breast:	n/a	n/a
36	POLR2A	chr19:39846022-39846048	K562	blood:	n/a	n/a
37	POLR2A	chr19:39847370-39847688	MCF-7	breast:	n/a	n/a
38	POLR2A	chr19:39847692-39847693	MCF-7	breast:	n/a	n/a
39	POLR2A	chr19:39847216-39847631	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr19:39845685-39845756	K562	blood:	n/a	n/a
41	POLR2A	chr19:39846261-39846268	K562	blood:	n/a	n/a
42	POLR2A	chr19:39847786-39847945	HepG2	liver:	n/a	n/a
43	POLR2A	chr19:39848782-39849206	HepG2	liver:	n/a	n/a
44	POLR2A	chr19:39847805-39847832	K562	blood:	n/a	n/a
45	POLR2A	chr19:39846296-39846410	K562	blood:	n/a	n/a
46	POLR2A	chr19:39847121-39847717	K562	blood:	n/a	n/a
47	POLR2A	chr19:39846915-39846962	HepG2	liver:	n/a	n/a
48	POLR2A	chr19:39846114-39846124	K562	blood:	n/a	n/a
49	POLR2A	chr19:39845923-39846397	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr19:39845638-39845696	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39845858..39848835-chr19:39849881..39851532,2	K562	blood:
2	chr19:39843827..39847459-chr19:39858082..39862141,4	MCF-7	breast:
3	chr19:39845356..39848788-chr19:39900821..39905638,4	MCF-7	breast:
4	chr19:39846643..39848442-chr19:39897327..39899339,2	MCF-7	breast:
5	chr19:39848239..39850464-chr19:39853560..39855951,2	MCF-7	breast:
6	chr19:39849513..39851836-chr19:39891478..39893245,2	K562	blood:
7	chr19:39844628..39846175-chr19:39896261..39898794,2	MCF-7	breast:
8	chr19:39849660..39851695-chr19:39853601..39855209,2	K562	blood:
9	chr19:39847929..39849448-chr19:39964068..39965681,2	K562	blood:
10	chr19:39845453..39848424-chr19:39895764..39898971,3	K562	blood:
11	chr19:39848912..39851365-chr19:39874735..39877110,2	K562	blood:
12	chr19:39848354..39851253-chr19:39867092..39868739,2	K562	blood:

No data

Variant related genes	Relation type
SAMD4B	TF binding region
ENSG00000128016	chromatin interactions
ENSG00000090924	chromatin interactions
ENSG00000179134	chromatin interactions
ENSG00000241983	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs30453	chr19:39845544-39845545	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542126423	chr19:39845548-39845549	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs62119689	chr19:39845550-39845551	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539586781	chr19:39845614-39845615	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs111756700	chr19:39845672-39845673	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs138600630	chr19:39845673-39845674	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs538573974	chr19:39845674-39845675	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs147559565	chr19:39845736-39845737	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs78657122	chr19:39845738-39845739	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs192194767	chr19:39845795-39845796	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs374418040	chr19:39845796-39845797	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs566565379	chr19:39845825-39845826	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs78362610	chr19:39845838-39845839	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs79709622	chr19:39845847-39845848	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs577115548	chr19:39845892-39845893	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs142695422	chr19:39845908-39845909	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs538072846	chr19:39845981-39845982	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs556754285	chr19:39846051-39846052	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs150728841	chr19:39846053-39846054	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs189872154	chr19:39846063-39846064	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs560183065	chr19:39846081-39846082	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs572080532	chr19:39846083-39846084	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs79468986	chr19:39846215-39846216	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs560833820	chr19:39846229-39846230	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs192140285	chr19:39846248-39846249	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs549688148	chr19:39846275-39846276	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs564782225	chr19:39846294-39846295	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs532261702	chr19:39846307-39846308	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs547297298	chr19:39846308-39846309	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs566480287	chr19:39846325-39846326	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs16973342	chr19:39846328-39846329	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574814238	chr19:39846394-39846395	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs549425395	chr19:39846440-39846441	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs76494230	chr19:39846461-39846462	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs538366665	chr19:39846505-39846506	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs5828035	chr19:39846512-39846513	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs139967707	chr19:39846600-39846601	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs578235108	chr19:39846676-39846677	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs539300529	chr19:39846730-39846731	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs554510018	chr19:39846761-39846762	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs572035029	chr19:39846800-39846801	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs115196141	chr19:39846816-39846817	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs184658298	chr19:39846955-39846956	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs58586829	chr19:39846962-39846963	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs375777108	chr19:39846963-39846964	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs551991450	chr19:39846964-39846965	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs369584334	chr19:39846974-39846975	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs149437639	chr19:39846978-39846979	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs564694874	chr19:39846994-39846995	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs532176894	chr19:39847004-39847005	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39834200-39846600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:39834200-39859200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:39834400-39849200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:39834800-39847400	Weak transcription	Small Intestine	intestine
5	chr19:39834800-39852800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:39834800-39852800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr19:39834800-39880000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:39835000-39846000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:39835600-39853600	Strong transcription	Placenta	Placenta
10	chr19:39835800-39880200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:39835800-39880200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr19:39836000-39847600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:39836200-39880400	Strong transcription	Primary T cells from cord blood	blood
14	chr19:39836400-39862600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr19:39836600-39845600	Weak transcription	Aorta	Aorta
16	chr19:39836600-39845800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:39836600-39864000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:39836600-39880400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr19:39836600-39880400	Strong transcription	Fetal Brain Female	brain
20	chr19:39836800-39846000	Weak transcription	Pancreas	Pancrea
21	chr19:39836800-39852000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:39836800-39852600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:39837400-39846400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:39837400-39880000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:39837600-39863600	Strong transcription	Fetal Intestine Small	intestine
26	chr19:39837800-39854400	Strong transcription	Fetal Stomach	stomach
27	chr19:39837800-39855400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:39838000-39851800	Strong transcription	Liver	Liver
29	chr19:39838000-39880000	Strong transcription	Brain Germinal Matrix	brain
30	chr19:39838200-39858200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:39838200-39858200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:39838200-39862600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr19:39838400-39853200	Strong transcription	A549	lung
34	chr19:39838600-39852600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:39838600-39880400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:39838800-39845800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:39838800-39880200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:39839000-39857600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:39839000-39858200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr19:39839200-39846000	Weak transcription	Right Ventricle	heart
41	chr19:39839200-39851800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:39839200-39852600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:39839200-39853400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:39839200-39879200	Strong transcription	Dnd41	blood
45	chr19:39839800-39847400	Weak transcription	Fetal Heart	heart
46	chr19:39841000-39852600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:39841200-39846000	Weak transcription	Spleen	Spleen
48	chr19:39841400-39852200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:39841600-39880000	Strong transcription	Fetal Intestine Large	intestine
50	chr19:39841800-39855400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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