Variant report

Variant	esv3406630
Chromosome Location	chr19:54325690-54327838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr19:54327373-54327676	K562	blood:	n/a	n/a
2	CEBPB	chr19:54327395-54327614	K562	blood:	n/a	chr19:54327513-54327524
3	CEBPB	chr19:54327393-54327651	HepG2	liver:	n/a	chr19:54327513-54327524
4	CEBPB	chr19:54327363-54327732	K562	blood:	n/a	chr19:54327513-54327524
5	CTCF	chr19:54326106-54326145	H1-hESC	embryonic stem cell:	n/a	n/a
6	FOSL2	chr19:54326926-54327187	MCF-7	breast:	n/a	n/a
7	MYC	chr19:54326023-54326037	GM12878	blood:	n/a	n/a
8	MYC	chr19:54326063-54326125	GM12878	blood:	n/a	n/a
9	NFYA	chr19:54327534-54327734	K562	blood:	n/a	n/a
10	POLR2A	chr19:54327423-54327477	MCF-7	breast:	n/a	n/a
11	POLR2A	chr19:54326815-54326968	MCF-7	breast:	n/a	n/a
12	POLR2A	chr19:54326835-54326870	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:54327357-54327378	MCF-7	breast:	n/a	n/a
14	POLR2A	chr19:54327050-54327192	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr19:54327479-54327495	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr19:54327259-54327902	HL-60	blood:	n/a	n/a
17	POLR2A	chr19:54327426-54327525	MCF-7	breast:	n/a	n/a
18	POLR2A	chr19:54327219-54327440	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr19:54327206-54327211	H1-hESC	embryonic stem cell:	n/a	n/a
20	RCOR1	chr19:54327404-54327836	K562	blood:	n/a	n/a
21	SPI1	chr19:54327526-54327732	K562	blood:	n/a	chr19:54327664-54327677 chr19:54327663-54327676 chr19:54327666-54327675 chr19:54327667-54327674
22	SPI1	chr19:54327406-54328021	HL-60	blood:	n/a	chr19:54327664-54327677 chr19:54327663-54327676 chr19:54327666-54327675 chr19:54327667-54327674
23	SPI1	chr19:54327550-54327982	HL-60	blood:	n/a	chr19:54327664-54327677 chr19:54327663-54327676 chr19:54327666-54327675 chr19:54327667-54327674
24	UBTF	chr19:54327539-54327590	K562	blood:	n/a	n/a
25	ZNF384	chr19:54327767-54327877	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:54327437-54327487	HepG2	liver:	n/a
2	chr19:54327437-54327487	HCM	heart:	n/a
3	chr19:54327437-54327487	A549	lung:	n/a
4	chr19:54327437-54327487	HIPEpiC	eye:	n/a
5	chr19:54327780-54327830	Jurkat	blood:	n/a
6	chr19:54327780-54327830	SK-N-SH_RA	brain:	n/a
7	chr19:54327437-54327487	NHDF-neo	bronchial:	n/a
8	chr19:54327437-54327487	NT2-D1	testis:	n/a
9	chr19:54327437-54327487	LNCaP	prostate:	n/a
10	chr19:54327404-54327454	HL-60	blood:	n/a
11	chr19:54327437-54327487	BE2_C	brain:	n/a
12	chr19:54327780-54327830	HCM	heart:	n/a
13	chr19:54327404-54327454	AG04449	skin:	fetal
14	chr19:54327404-54327454	GM12891	blood:	n/a
15	chr19:54327404-54327454	HEK293	kidney:	embryo
16	chr19:54327780-54327830	SKMC	muscle:	n/a
17	chr19:54327780-54327830	HCPEpiC	choroid plexus:	n/a
18	chr19:54327404-54327454	GM12878	blood:	n/a
19	chr19:54327437-54327487	HNPCEpiC	eye:	n/a
20	chr19:54327404-54327454	SK-N-SH	brain:	n/a
21	chr19:54327780-54327830	HPAEpiC	pulmonary alveolar:	n/a
22	chr19:54327404-54327454	HCPEpiC	choroid plexus:	n/a
23	chr19:54327437-54327487	PANC-1	pancreas:	n/a
24	chr19:54327780-54327830	HUVEC	blood vessel:	n/a
25	chr19:54327404-54327454	T-47D	breast:	n/a
26	chr19:54327437-54327487	IMR90	lung:	fetal
27	chr19:54327437-54327487	GM12878	blood:	n/a
28	chr19:54327780-54327830	Caco-2	colon:	n/a
29	chr19:54327780-54327830	BJ	skin:	n/a
30	chr19:54327404-54327454	AG10803	skin:	n/a
31	chr19:54327780-54327830	HMEC	breast:	n/a
32	chr19:54327437-54327487	ProgFib	skin:	n/a
33	chr19:54327437-54327487	U87	brain:	n/a
34	chr19:54327780-54327830	LNCaP	prostate:	n/a
35	chr19:54327780-54327830	AoSMC	blood vessel:	n/a
36	chr19:54327404-54327454	BE2_C	brain:	n/a
37	chr19:54327780-54327830	GM12892	blood:	n/a
38	chr19:54327437-54327487	GM06990	blood:	n/a
39	chr19:54327404-54327454	HUVEC	blood vessel:	n/a
40	chr19:54327437-54327487	PFSK-1	brain:	n/a
41	chr19:54327404-54327454	LNCaP	prostate:	n/a
42	chr19:54327780-54327830	AG09319	gingival:	n/a
43	chr19:54327404-54327454	CMK	blood:	n/a
44	chr19:54327404-54327454	NT2-D1	testis:	n/a
45	chr19:54327404-54327454	SAEC	small airway:	n/a
46	chr19:54327780-54327830	NHBE	bronchial:	n/a
47	chr19:54327404-54327454	SK-N-SH_RA	brain:	n/a
48	chr19:54327437-54327487	AG09309	skin:	n/a
49	chr19:54327404-54327454	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:54327780-54327830	AG10803	skin:	n/a

No data

Variant related genes	Relation type
NLRP12	TF binding region
NLRP12	CpG island

Extended variants
information (count: 128 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558590829	chr19:54325708-54325709	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs555579726	chr19:54325728-54325729	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371270224	chr19:54325729-54325730	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537807116	chr19:54325742-54325743	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549716795	chr19:54325760-54325761	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557234400	chr19:54325768-54325769	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192403083	chr19:54325814-54325815	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs369791507	chr19:54325938-54325939	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs554770906	chr19:54325947-54325948	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs140170012	chr19:54325972-54325973	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35709423	chr19:54325990-54325991	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs377595007	chr19:54326010-54326011	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs184745069	chr19:54326023-54326024	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs565340295	chr19:54326049-54326050	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532406995	chr19:54326089-54326090	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544644139	chr19:54326101-54326102	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs142475020	chr19:54326124-54326125	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs530052319	chr19:54326125-54326126	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548480621	chr19:54326166-54326167	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs189605067	chr19:54326211-54326212	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs62143206	chr19:54326212-54326213	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527444059	chr19:54326239-54326240	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181371842	chr19:54326245-54326246	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs185857379	chr19:54326249-54326250	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs189095445	chr19:54326266-54326267	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555779055	chr19:54326269-54326270	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567701198	chr19:54326296-54326297	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62143207	chr19:54326346-54326347	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs77284763	chr19:54326352-54326353	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs74394542	chr19:54326354-54326355	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs137959316	chr19:54326358-54326359	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs532442453	chr19:54326375-54326376	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554809480	chr19:54326384-54326385	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs78215353	chr19:54326387-54326388	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181832055	chr19:54326388-54326389	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs142445645	chr19:54326390-54326391	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs534661992	chr19:54326405-54326406	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368274669	chr19:54326406-54326407	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565319475	chr19:54326478-54326479	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201329485	chr19:54326504-54326505	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546000214	chr19:54326530-54326531	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540634193	chr19:54326570-54326571	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371590885	chr19:54326647-54326648	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373867430	chr19:54326669-54326670	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373491385	chr19:54326670-54326671	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368815949	chr19:54326677-54326678	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372332418	chr19:54326683-54326684	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543548894	chr19:54326684-54326685	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552402966	chr19:54326703-54326704	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187325078	chr19:54326707-54326708	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Lung cancer	19153074	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:54302000-54327200	Weak transcription	Lung	lung
2	chr19:54313800-54327000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:54314000-54327400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:54314400-54327000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:54314600-54327000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:54314600-54327000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:54318400-54327000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr19:54318400-54327000	Weak transcription	Spleen	Spleen
9	chr19:54318400-54327200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:54318400-54327200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:54318800-54327200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:54321200-54327200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:54322400-54326800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:54323600-54327000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:54324200-54326400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr19:54324400-54325800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr19:54324800-54326200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr19:54325000-54326000	Active TSS	Primary hematopoietic stem cells	blood
19	chr19:54325400-54327800	Active TSS	Primary B cells from cord blood	blood
20	chr19:54325800-54326000	Active TSS	Monocytes-CD14+_RO01746	blood
21	chr19:54326000-54326200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr19:54326000-54327000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:54326200-54327800	Active TSS	Primary monocytes fromperipheralblood	blood
24	chr19:54326200-54327800	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr19:54326400-54326800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr19:54326800-54327000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:54326800-54327000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:54326800-54328600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr19:54327000-54327200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:54327000-54327400	Enhancers	Primary hematopoietic stem cells	blood
31	chr19:54327000-54327400	Active TSS	Adipose Nuclei	Adipose
32	chr19:54327000-54327400	Bivalent Enhancer	Placenta	Placenta
33	chr19:54327000-54327600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr19:54327000-54327600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:54327000-54327600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:54327000-54327600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:54327000-54327600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr19:54327000-54327600	Active TSS	Right Atrium	heart
39	chr19:54327000-54327600	ZNF genes & repeats	Spleen	Spleen
40	chr19:54327000-54327800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr19:54327000-54327800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr19:54327000-54327800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:54327000-54328000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr19:54327000-54328400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:54327200-54327400	Flanking Active TSS	Liver	Liver
46	chr19:54327200-54327400	Flanking Bivalent TSS/Enh	Lung	lung
47	chr19:54327200-54327400	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr19:54327200-54327400	Flanking Active TSS	HepG2	liver
49	chr19:54327200-54327600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr19:54327200-54327600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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