Variant report

Variant	esv1800204
Chromosome Location	chr19:42787848-42788951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:452)
CpG islands
(count:183)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr19:42787616-42787880	GM12878	blood:	n/a	n/a
2	ATF2	chr19:42787227-42787993	GM12878	blood:	n/a	n/a
3	ATF3	chr19:42787085-42787951	A549	lung:	n/a	n/a
4	ATF3	chr19:42788430-42788681	K562	blood:	n/a	n/a
5	BACH1	chr19:42787588-42788270	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr19:42788946-42789034	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr19:42787212-42787922	K562	blood:	n/a	n/a
8	BCL3	chr19:42787345-42788075	A549	lung:	n/a	n/a
9	BCL3	chr19:42788764-42791111	A549	lung:	n/a	chr19:42790126-42790135 chr19:42788787-42788800 chr19:42789902-42789911 chr19:42789870-42789879
10	BCL3	chr19:42783261-42788037	A549	lung:	n/a	chr19:42784292-42784305 chr19:42784099-42784112 chr19:42785738-42785746 chr19:42785147-42785160 chr19:42784294-42784303 chr19:42784104-42784113 chr19:42784556-42784569
11	BHLHE40	chr19:42788293-42788691	HepG2	liver:	n/a	n/a
12	BHLHE40	chr19:42787223-42788737	GM12878	blood:	n/a	n/a
13	BHLHE40	chr19:42787310-42787954	K562	blood:	n/a	n/a
14	BHLHE40	chr19:42788364-42788717	K562	blood:	n/a	n/a
15	CBX3	chr19:42787175-42787999	K562	blood:	n/a	n/a
16	CCNT2	chr19:42787382-42789025	K562	blood:	n/a	n/a
17	CEBPB	chr19:42787406-42787983	GM12878	blood:	n/a	n/a
18	CEBPD	chr19:42787740-42788806	HepG2	liver:	n/a	n/a
19	CEBPD	chr19:42788398-42788678	HepG2	liver:	n/a	n/a
20	CEBPD	chr19:42787807-42787999	HepG2	liver:	n/a	n/a
21	CHD1	chr19:42787693-42788006	GM12878	blood:	n/a	n/a
22	CHD1	chr19:42788271-42788461	GM12878	blood:	n/a	n/a
23	CHD2	chr19:42788169-42788371	HepG2	liver:	n/a	n/a
24	CHD2	chr19:42787316-42788497	GM12878	blood:	n/a	n/a
25	CHD2	chr19:42787754-42787925	K562	blood:	n/a	n/a
26	CHD2	chr19:42787913-42787946	HepG2	liver:	n/a	n/a
27	CHD2	chr19:42787685-42788609	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr19:42788317-42788364	K562	blood:	n/a	n/a
29	CREB1	chr19:42787192-42789325	HepG2	liver:	n/a	n/a
30	CREB1	chr19:42787895-42788214	A549	lung:	n/a	n/a
31	CREB1	chr19:42787844-42788162	ECC-1	luminal epithelium:	n/a	n/a
32	CREB1	chr19:42787192-42788833	K562	blood:	n/a	n/a
33	CREB1	chr19:42787112-42788782	GM12878	blood:	n/a	n/a
34	CREB1	chr19:42787487-42788999	A549	lung:	n/a	n/a
35	CTCF	chr19:42787847-42787888	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr19:42787800-42787950	GM12871	blood:	n/a	n/a
37	CTCF	chr19:42787820-42787970	GM12874	blood:	n/a	n/a
38	CTCF	chr19:42787835-42787929	GM13976	blood:	n/a	n/a
39	CTCF	chr19:42787860-42788010	GM12864	blood:	n/a	n/a
40	CTCF	chr19:42787934-42787945	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr19:42787254-42787982	GM19239	blood:	n/a	n/a
42	CTCF	chr19:42787785-42787976	GM19238	blood:	n/a	n/a
43	CTCF	chr19:42787834-42787982	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:42787839-42787924	GM10266	blood:	n/a	n/a
45	CTCF	chr19:42787861-42787864	HepG2	liver:	n/a	n/a
46	CTCF	chr19:42787798-42787984	GM12892	blood:	n/a	n/a
47	CTCF	chr19:42787855-42787936	Lung_OC	lung:	n/a	n/a
48	CTCF	chr19:42787820-42787970	GM12878	blood:	n/a	n/a
49	CTCF	chr19:42787836-42787921	GM20000	blood:	n/a	n/a
50	CTCF	chr19:42787824-42787979	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42788848-42788898	CMK	blood:	n/a
2	chr19:42788248-42788298	HRPEpiC	eye:	n/a
3	chr19:42788248-42788298	HMEC	breast:	n/a
4	chr19:42788257-42788307	MCF-7	breast:	n/a
5	chr19:42788848-42788898	NB4	blood:	n/a
6	chr19:42788257-42788307	AG10803	skin:	n/a
7	chr19:42788257-42788307	HEK293	kidney:	embryo
8	chr19:42788257-42788307	PANC-1	pancreas:	n/a
9	chr19:42788848-42788898	A549	lung:	n/a
10	chr19:42788257-42788307	GM12878	blood:	n/a
11	chr19:42788257-42788307	AG09309	skin:	n/a
12	chr19:42788257-42788307	Hepatocyte	liver:	n/a
13	chr19:42788248-42788298	SK-N-SH_RA	brain:	n/a
14	chr19:42788257-42788307	HCF	heart:	n/a
15	chr19:42788257-42788307	AG04449	skin:	fetal
16	chr19:42788248-42788298	HCPEpiC	choroid plexus:	n/a
17	chr19:42788248-42788298	HCF	heart:	n/a
18	chr19:42788248-42788298	GM06990	blood:	n/a
19	chr19:42788257-42788307	NT2-D1	testis:	n/a
20	chr19:42788248-42788298	K562	blood:	n/a
21	chr19:42788248-42788298	HNPCEpiC	eye:	n/a
22	chr19:42788248-42788298	HEEpiC	esophagus:	n/a
23	chr19:42788848-42788898	AG09319	gingival:	n/a
24	chr19:42788848-42788898	SK-N-SH	brain:	n/a
25	chr19:42788848-42788898	U87	brain:	n/a
26	chr19:42788848-42788898	HRE	kidney:	n/a
27	chr19:42788257-42788307	GM12892	blood:	n/a
28	chr19:42788248-42788298	H1-hESC	embryonic stem cell:	embryo
29	chr19:42788257-42788307	HRE	kidney:	n/a
30	chr19:42788848-42788898	HRCEpiC	kidney:	n/a
31	chr19:42788248-42788298	HRE	kidney:	n/a
32	chr19:42788248-42788298	AG04449	skin:	fetal
33	chr19:42788248-42788298	AG09309	skin:	n/a
34	chr19:42788848-42788898	HEEpiC	esophagus:	n/a
35	chr19:42788248-42788298	A549	lung:	n/a
36	chr19:42788848-42788898	AG04450	lung:	fetal
37	chr19:42788257-42788307	ProgFib	skin:	n/a
38	chr19:42788848-42788898	HIPEpiC	eye:	n/a
39	chr19:42788848-42788898	T-47D	breast:	n/a
40	chr19:42788848-42788898	SAEC	small airway:	n/a
41	chr19:42788257-42788307	RPTEC	kidney:	n/a
42	chr19:42788848-42788898	HCF	heart:	n/a
43	chr19:42788257-42788307	SK-N-SH	brain:	n/a
44	chr19:42788257-42788307	SK-N-MC	brain:	n/a
45	chr19:42788248-42788298	AG09319	gingival:	n/a
46	chr19:42788257-42788307	HRCEpiC	kidney:	n/a
47	chr19:42788248-42788298	NH-A	brain:	n/a
48	chr19:42788257-42788307	Hela-S3	cervix:	n/a
49	chr19:42788848-42788898	AoSMC	blood vessel:	n/a
50	chr19:42788248-42788298	LNCaP	prostate:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42597900..42600761-chr19:42786384..42788492,2	K562	blood:
2	chr19:42598699..42600761-chr19:42786357..42787884,2	K562	blood:
3	chr12:49524528..49525157-chr19:42787936..42788663,3	Hela-S3	cervix:
4	chr19:42785454..42788191-chr19:42828272..42829778,2	K562	blood:
5	chr19:42579405..42581484-chr19:42787067..42789919,2	K562	blood:
6	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:
7	chr19:42786293..42789026-chr19:42903312..42906811,3	MCF-7	breast:
8	chr19:42786310..42789274-chr8:144099903..144101921,2	MCF-7	breast:
9	chr19:42787763..42791073-chr19:42804241..42808628,6	MCF-7	breast:
10	chr19:42788208..42790691-chr19:42829217..42832174,3	K562	blood:
11	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
12	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
13	chr19:42788053..42790658-chr19:42828603..42831088,2	MCF-7	breast:

No data

Variant related genes	Relation type
CIC	TF binding region
CIC	CpG island
ENSG00000105429	chromatin interactions
ENSG00000160932	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000028277	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000188368	chromatin interactions
ENSG00000079462	chromatin interactions
ENSG00000105723	chromatin interactions
ENSG00000213904	chromatin interactions
ENSG00000204957	chromatin interactions
ENSG00000268643	chromatin interactions
ENSG00000105732	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576302784	chr19:42787866-42787867	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs12978818	chr19:42787890-42787891	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs12980581	chr19:42787891-42787892	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs537265525	chr19:42787953-42787954	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs566728587	chr19:42788002-42788003	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs577311604	chr19:42788019-42788020	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs541154669	chr19:42788022-42788023	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs113888433	chr19:42788175-42788176	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs187522860	chr19:42788222-42788223	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs192042891	chr19:42788228-42788229	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs184104469	chr19:42788231-42788232	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs188458677	chr19:42788420-42788421	Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs561141658	chr19:42788481-42788482	Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs574718288	chr19:42788498-42788499	Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs542215918	chr19:42788719-42788720	Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs549556810	chr19:42788769-42788770	Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs369985055	chr19:42788835-42788836	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs563589724	chr19:42788844-42788845	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs530785646	chr19:42788851-42788852	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs371261157	chr19:42788910-42788911	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs374815992	chr19:42788941-42788942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs565197061	chr19:42788946-42788947	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	10 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
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
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	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
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42783600-42788000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:42785400-42788000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:42785400-42788000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:42785400-42788000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:42785400-42788000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:42785400-42788000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:42785600-42788000	Flanking Active TSS	Fetal Brain Female	brain
8	chr19:42787000-42788000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:42787000-42788000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr19:42787200-42788000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:42787200-42788000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr19:42787200-42788000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr19:42787200-42788000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:42787200-42788000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:42787200-42788000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr19:42787200-42788000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr19:42787200-42788000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr19:42787200-42788000	Flanking Active TSS	Spleen	Spleen
19	chr19:42787200-42788000	Flanking Active TSS	Dnd41	blood
20	chr19:42787200-42788000	Flanking Active TSS	NH-A	brain
21	chr19:42787200-42788000	Flanking Active TSS	NHEK	skin
22	chr19:42787200-42788000	Flanking Active TSS	NHLF	lung
23	chr19:42787200-42788000	Flanking Active TSS	Osteobl	bone
24	chr19:42787400-42788000	Flanking Active TSS	Liver	Liver
25	chr19:42787400-42788000	Flanking Active TSS	HMEC	breast
26	chr19:42787400-42788400	Transcr. at gene 5' and 3'	Right Atrium	heart
27	chr19:42787400-42789400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr19:42787600-42788000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:42787600-42788000	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr19:42787600-42788000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:42787600-42788000	Active TSS	Placenta Amnion	Placenta Amnion
32	chr19:42787600-42789200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:42787600-42789200	Active TSS	Aorta	Aorta
34	chr19:42787600-42789400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr19:42787600-42789400	Active TSS	Ovary	ovary
36	chr19:42787800-42788000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:42787800-42788000	Active TSS	Primary B cells from peripheral blood	blood
38	chr19:42787800-42788000	Active TSS	Primary T cells from cord blood	blood
39	chr19:42787800-42788000	Active TSS	Primary T cells fromperipheralblood	blood
40	chr19:42787800-42788000	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr19:42787800-42788000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:42787800-42788000	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr19:42787800-42788000	Active TSS	Brain Hippocampus Middle	brain
44	chr19:42787800-42788000	Active TSS	Brain Substantia Nigra	brain
45	chr19:42787800-42788000	Active TSS	Colon Smooth Muscle	Colon
46	chr19:42787800-42788000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr19:42787800-42788000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr19:42787800-42788000	Enhancers	Fetal Brain Male	brain
49	chr19:42787800-42788000	Active TSS	Fetal Intestine Large	intestine
50	chr19:42787800-42788000	Active TSS	Fetal Intestine Small	intestine

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