Variant report

Variant	esv3319235
Chromosome Location	chr19:56686205-56689036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:550)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:56685949-56686265	K562	blood:	n/a	n/a
2	ATF3	chr19:56686067-56686267	K562	blood:	n/a	chr19:56686104-56686114 chr19:56686100-56686113 chr19:56686102-56686113 chr19:56686104-56686114 chr19:56686103-56686111 chr19:56686101-56686114 chr19:56686103-56686114 chr19:56686104-56686111 chr19:56686101-56686111 chr19:56686100-56686115 chr19:56686102-56686115 chr19:56686101-56686114 chr19:56686102-56686113
3	BHLHE40	chr19:56685945-56686256	K562	blood:	n/a	n/a
4	CTCF	chr19:56687403-56687437	Lung_OC	lung:	n/a	n/a
5	JUN	chr19:56686023-56686223	HepG2	liver:	n/a	chr19:56686099-56686112 chr19:56686103-56686112
6	JUN	chr19:56685724-56686531	K562	blood:	n/a	chr19:56686099-56686112 chr19:56686103-56686112
7	JUND	chr19:56685942-56686271	HepG2	liver:	n/a	chr19:56686103-56686112
8	JUND	chr19:56685967-56686301	K562	blood:	n/a	chr19:56686103-56686112
9	MAX	chr19:56686040-56686227	HepG2	liver:	n/a	n/a
10	MAX	chr19:56686048-56686219	K562	blood:	n/a	n/a
11	MAX	chr19:56685917-56686280	K562	blood:	n/a	n/a
12	MYC	chr19:56686061-56686239	K562	blood:	n/a	n/a
13	POLR2A	chr19:56688476-56688487	MCF-7	breast:	n/a	n/a
14	POLR2A	chr19:56688412-56688454	MCF-7	breast:	n/a	n/a
15	RCOR1	chr19:56689007-56689345	K562	blood:	n/a	n/a
16	REST	chr19:56687362-56688032	PANC-1	pancreas:	n/a	n/a
17	SRF	chr19:56687513-56687741	GM12878	blood:	n/a	n/a
18	TBL1XR1	chr19:56687039-56687093	K562	blood:	n/a	n/a
19	TCF3	chr19:56687530-56687910	GM12878	blood:	n/a	n/a
20	USF1	chr19:56686686-56686821	HepG2	liver:	n/a	chr19:56686733-56686744

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56687364-56687414	PFSK-1	brain:	n/a
2	chr19:56687364-56687414	PFSK-1	brain:	n/a
3	chr19:56686707-56686757	HCT-116	colon:	n/a
4	chr19:56686406-56686456	HepG2	liver:	n/a
5	chr19:56686339-56686389	PFSK-1	brain:	n/a
6	chr19:56686406-56686456	Caco-2	colon:	n/a
7	chr19:56688439-56688489	GM06990	blood:	n/a
8	chr19:56688439-56688489	HCF	heart:	n/a
9	chr19:56687197-56687247	SK-N-SH	brain:	n/a
10	chr19:56686707-56686757	HL-60	blood:	n/a
11	chr19:56688439-56688489	HepG2	liver:	n/a
12	chr19:56686707-56686757	HCPEpiC	choroid plexus:	n/a
13	chr19:56687364-56687414	HRCEpiC	kidney:	n/a
14	chr19:56687388-56687438	NHBE	bronchial:	n/a
15	chr19:56688439-56688489	AG10803	skin:	n/a
16	chr19:56687199-56687249	AG10803	skin:	n/a
17	chr19:56688423-56688473	IMR90	lung:	fetal
18	chr19:56686339-56686389	IMR90	lung:	fetal
19	chr19:56687364-56687414	U87	brain:	n/a
20	chr19:56686339-56686389	MCF-7	breast:	n/a
21	chr19:56686406-56686456	NH-A	brain:	n/a
22	chr19:56687388-56687438	HRPEpiC	eye:	n/a
23	chr19:56687197-56687247	BE2_C	brain:	n/a
24	chr19:56687364-56687414	HNPCEpiC	eye:	n/a
25	chr19:56686707-56686757	Jurkat	blood:	n/a
26	chr19:56688423-56688473	HRE	kidney:	n/a
27	chr19:56686406-56686456	HCT-116	colon:	n/a
28	chr19:56686406-56686456	GM12891	blood:	n/a
29	chr19:56686707-56686757	BE2_C	brain:	n/a
30	chr19:56687388-56687438	GM19239	blood:	n/a
31	chr19:56687199-56687249	NHBE	bronchial:	n/a
32	chr19:56688439-56688489	HCT-116	colon:	n/a
33	chr19:56688439-56688489	PFSK-1	brain:	n/a
34	chr19:56687197-56687247	HRCEpiC	kidney:	n/a
35	chr19:56687388-56687438	HRE	kidney:	n/a
36	chr19:56688423-56688473	Jurkat	blood:	n/a
37	chr19:56686406-56686456	T-47D	breast:	n/a
38	chr19:56687197-56687247	HCT-116	colon:	n/a
39	chr19:56688439-56688489	AG04449	skin:	fetal
40	chr19:56686339-56686389	SK-N-MC	brain:	n/a
41	chr19:56686406-56686456	ECC-1	luminal epithelium:	n/a
42	chr19:56686406-56686456	AG09319	gingival:	n/a
43	chr19:56688423-56688473	T-47D	breast:	n/a
44	chr19:56687197-56687247	NB4	blood:	n/a
45	chr19:56686339-56686389	AG04449	skin:	fetal
46	chr19:56687199-56687249	RPTEC	kidney:	n/a
47	chr19:56688439-56688489	HEK293	kidney:	embryo
48	chr19:56687199-56687249	ovcar-3	ovarian:	n/a
49	chr19:56687197-56687247	HRE	kidney:	n/a
50	chr19:56687388-56687438	PFSK-1	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56654434..56656052-chr19:56684107..56686255,2	K562	blood:
2	chr19:56651843..56653969-chr19:56684721..56686741,2	MCF-7	breast:
3	chr19:56688624..56690608-chr19:56692405..56694978,2	K562	blood:

No data

Variant related genes	Relation type
GALP	TF binding region
GALP	CpG island
ENSG00000167685	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs571874353	chr19:56686223-56686224	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs74864401	chr19:56686224-56686225	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs530644103	chr19:56686225-56686226	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550255967	chr19:56686280-56686281	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542678451	chr19:56686281-56686282	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567061542	chr19:56686301-56686302	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553176970	chr19:56686303-56686304	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs546280881	chr19:56686355-56686356	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141361088	chr19:56686356-56686357	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150809415	chr19:56686358-56686359	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs274165	chr19:56686368-56686369	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539507065	chr19:56686385-56686386	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12984348	chr19:56686393-56686394	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182621999	chr19:56686406-56686407	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs555061014	chr19:56686407-56686408	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs567906227	chr19:56686440-56686441	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186892444	chr19:56686455-56686456	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192171186	chr19:56686467-56686468	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12971747	chr19:56686515-56686516	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs372024712	chr19:56686544-56686545	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182750455	chr19:56686556-56686557	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564880298	chr19:56686559-56686560	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374489646	chr19:56686560-56686561	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530607204	chr19:56686561-56686562	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544009810	chr19:56686568-56686569	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560601560	chr19:56686577-56686578	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs274166	chr19:56686605-56686606	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528910285	chr19:56686612-56686613	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187777094	chr19:56686613-56686614	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532179518	chr19:56686620-56686621	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146449395	chr19:56686621-56686622	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548995649	chr19:56686628-56686629	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538393719	chr19:56686636-56686637	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373838646	chr19:56686661-56686662	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139873820	chr19:56686682-56686683	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs193151205	chr19:56686734-56686735	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs185655234	chr19:56686740-56686741	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs274167	chr19:56686756-56686757	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs112068161	chr19:56686796-56686797	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs274168	chr19:56686801-56686802	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs274169	chr19:56686886-56686887	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs3810336	chr19:56686894-56686895	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs143116332	chr19:56686897-56686898	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs274170	chr19:56686953-56686954	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543976745	chr19:56686964-56686965	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553435257	chr19:56687030-56687031	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529934576	chr19:56687063-56687064	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs189314558	chr19:56687068-56687069	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs77916251	chr19:56687077-56687078	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs531971716	chr19:56687091-56687092	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56673000-56690000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr19:56682000-56686400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:56682000-56687000	Weak transcription	Spleen	Spleen
4	chr19:56683600-56686600	Weak transcription	Liver	Liver
5	chr19:56685400-56687200	Enhancers	K562	blood
6	chr19:56685600-56687400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr19:56685600-56687600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:56685600-56688600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:56685800-56686800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:56685800-56688000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:56686000-56686400	Bivalent Enhancer	A549	lung
12	chr19:56686000-56686400	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr19:56686200-56686400	Bivalent Enhancer	Placenta	Placenta
14	chr19:56686400-56687000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:56686400-56687200	Bivalent Enhancer	HepG2	liver
16	chr19:56686600-56688200	Enhancers	Liver	Liver
17	chr19:56686600-56688400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:56686800-56687200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr19:56686800-56687200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr19:56686800-56687400	Enhancers	Brain Germinal Matrix	brain
21	chr19:56686800-56688000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:56687000-56687200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:56687000-56687200	Enhancers	Spleen	Spleen
24	chr19:56687000-56687400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr19:56687200-56687400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:56687400-56687600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:56687400-56687600	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr19:56687600-56688000	Active TSS	Brain Germinal Matrix	brain
29	chr19:56687600-56688600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:56688000-56688200	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr19:56688200-56689200	Weak transcription	Liver	Liver
32	chr19:56688600-56702400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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