Variant report

Variant	esv3325261
Chromosome Location	chr19:38997809-38998291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr19:38997792-38997867	Hela-S3	cervix:	n/a	n/a
2	CBX3	chr19:38997143-38997875	K562	blood:	n/a	n/a
3	CCNT2	chr19:38997459-38997921	K562	blood:	n/a	chr19:38997654-38997663
4	CHD2	chr19:38997636-38997968	Hela-S3	cervix:	n/a	n/a
5	CREB1	chr19:38997433-38997995	A549	lung:	n/a	n/a
6	CREB1	chr19:38998025-38998289	A549	lung:	n/a	n/a
7	CTCF	chr19:38997425-38997853	K562	blood:	n/a	n/a
8	E2F4	chr19:38997535-38997994	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F6	chr19:38997073-38997913	A549	lung:	n/a	n/a
10	E2F6	chr19:38997332-38997881	A549	lung:	n/a	n/a
11	E2F6	chr19:38997221-38997864	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr19:38997329-38997921	K562	blood:	n/a	n/a
13	ELF1	chr19:38997362-38998392	GM12878	blood:	n/a	n/a
14	ELF1	chr19:38997359-38998065	K562	blood:	n/a	n/a
15	ELF1	chr19:38997378-38998087	K562	blood:	n/a	n/a
16	HMGN3	chr19:38997483-38998289	K562	blood:	n/a	n/a
17	IRF1	chr19:38997374-38998356	K562	blood:	n/a	chr19:38997782-38997796 chr19:38997751-38997765 chr19:38997653-38997667
18	IRF1	chr19:38997152-38997950	K562	blood:	n/a	chr19:38997782-38997796 chr19:38997751-38997765 chr19:38997653-38997667
19	JUND	chr19:38997434-38998162	K562	blood:	n/a	n/a
20	MAX	chr19:38997308-38997820	A549	lung:	n/a	n/a
21	MAX	chr19:38996908-38998583	A549	lung:	n/a	n/a
22	MAX	chr19:38997448-38997869	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr19:38997156-38997896	MCF-7	breast:	n/a	n/a
24	MAX	chr19:38997389-38997812	SK-N-SH	brain:	n/a	n/a
25	MAX	chr19:38997361-38997817	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr19:38997351-38997864	MCF-7	breast:	n/a	n/a
27	MAX	chr19:38997356-38997863	NB4	blood:	n/a	n/a
28	MAX	chr19:38997012-38997947	A549	lung:	n/a	n/a
29	MAX	chr19:38997318-38997838	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr19:38997407-38997907	K562	blood:	n/a	n/a
31	MAX	chr19:38997013-38997941	K562	blood:	n/a	n/a
32	MAZ	chr19:38997529-38997923	GM12878	blood:	n/a	n/a
33	MAZ	chr19:38997537-38998071	Hela-S3	cervix:	n/a	n/a
34	MAZ	chr19:38997331-38998333	K562	blood:	n/a	n/a
35	MXI1	chr19:38997055-38998392	SK-N-SH	brain:	n/a	n/a
36	MYC	chr19:38997295-38997921	K562	blood:	n/a	n/a
37	MYC	chr19:38997126-38997894	K562	blood:	n/a	n/a
38	NFYB	chr19:38997632-38997832	Hela-S3	cervix:	n/a	n/a
39	NFYB	chr19:38997703-38997853	GM12878	blood:	n/a	n/a
40	NR2F2	chr19:38997353-38997977	K562	blood:	n/a	n/a
41	POLR2A	chr19:38997305-38997827	K562	blood:	n/a	n/a
42	POLR2A	chr19:38997897-38997950	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr19:38998030-38998039	K562	blood:	n/a	n/a
44	POLR2A	chr19:38998059-38998495	K562	blood:	n/a	n/a
45	POLR2A	chr19:38998168-38998224	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr19:38997056-38998006	K562	blood:	n/a	n/a
47	POLR2A	chr19:38997353-38997826	MCF-7	breast:	n/a	n/a
48	POLR2A	chr19:38997361-38997822	K562	blood:	n/a	n/a
49	POLR2A	chr19:38998225-38998354	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr19:38997413-38998120	K562	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38994667..38998309-chr19:39006613..39008813,3	K562	blood:
2	chr19:38978849..38981748-chr19:38997684..38999200,2	K562	blood:
3	chr19:38996424..38999346-chr19:39017618..39019958,2	K562	blood:
4	chr19:38991175..38993486-chr19:38996742..38999270,3	K562	blood:
5	chr19:38996337..38999179-chr19:39339414..39341961,3	K562	blood:
6	chr19:38966809..38968842-chr19:38996344..38998675,2	K562	blood:
7	chr19:38863683..38866676-chr19:38996103..38998198,2	K562	blood:
8	chr19:38942941..38945544-chr19:38995924..38999103,4	K562	blood:
9	chr19:38996461..38998048-chr19:39086974..39089806,2	K562	blood:
10	chr19:38997702..38999561-chr19:39033477..39036015,2	MCF-7	breast:
11	chr19:38996233..38998057-chr19:39033853..39035583,2	K562	blood:
12	chr19:38892294..38894337-chr19:38997304..39000049,2	MCF-7	breast:
13	chr19:38995826..38998096-chr19:39027051..39028960,2	K562	blood:
14	chr19:38892071..38894486-chr19:38996089..38998025,2	K562	blood:
15	chr19:38997159..38998011-chr9:35531211..35531711,2	NB4	blood:
16	chr19:38892986..38895865-chr19:38996015..38998025,2	K562	blood:
17	chr19:38983899..38986656-chr19:38994778..38998627,3	K562	blood:
18	chr19:38990098..38992675-chr19:38995996..38998496,3	K562	blood:
19	chr19:38996312..38998030-chr19:39136647..39139239,2	K562	blood:
20	chr19:38995901..38997990-chr19:39057193..39059011,2	K562	blood:
21	chr19:38878587..38880206-chr19:38996146..38998236,2	K562	blood:

No data

Variant related genes	Relation type
RYR1	TF binding region
ENSG00000188766	chromatin interactions
ENSG00000267291	chromatin interactions
ENSG00000130244	chromatin interactions
ENSG00000268055	chromatin interactions
ENSG00000099341	chromatin interactions
ENSG00000104814	chromatin interactions
ENSG00000269445	chromatin interactions
ENSG00000104824	chromatin interactions
ENSG00000179168	chromatin interactions
ENSG00000130402	chromatin interactions
ENSG00000196218	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369587705	chr19:38997812-38997813	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs531822765	chr19:38997867-38997868	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs60530219	chr19:38997868-38997869	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372141700	chr19:38997878-38997879	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs11880187	chr19:38997896-38997897	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs551345639	chr19:38997898-38997899	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs12980578	chr19:38998025-38998026	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150011718	chr19:38998071-38998072	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs549153996	chr19:38998129-38998130	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs567160666	chr19:38998130-38998131	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs537527610	chr19:38998144-38998145	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs555854353	chr19:38998149-38998150	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs570867764	chr19:38998152-38998153	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs538629084	chr19:38998155-38998156	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs553531175	chr19:38998256-38998257	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs41274328	chr19:38998279-38998280	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs542984058	chr19:38998280-38998281	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs555179381	chr19:38998281-38998282	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs35648526	chr19:38998289-38998290	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	17122850	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38934800-39005600	Strong transcription	Fetal Muscle Leg	muscle
2	chr19:38940000-39006400	Weak transcription	HSMM	muscle
3	chr19:38960800-39034400	Strong transcription	Skeletal Muscle Female	skeletal muscle
4	chr19:38963000-39033000	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr19:38976800-39005400	Weak transcription	Brain Anterior Caudate	brain
6	chr19:38981600-39005600	Weak transcription	Brain Substantia Nigra	brain
7	chr19:38981800-39005400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:38982200-39005600	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:38985200-39081800	Weak transcription	Psoas Muscle	Psoas
10	chr19:38988200-39005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr19:38989400-39000000	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr19:38989800-38999200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:38996200-39007800	Weak transcription	Right Atrium	heart
14	chr19:38997000-38998800	Genic enhancers	H1 Cell Line	embryonic stem cell
15	chr19:38997200-38998000	Bivalent Enhancer	Placenta	Placenta
16	chr19:38997200-38998400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
17	chr19:38997200-38998400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:38997200-38998600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr19:38997200-38998600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:38997400-38998000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:38997400-38998400	Enhancers	Primary B cells from peripheral blood	blood
22	chr19:38997400-38998400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:38997400-38998400	Enhancers	Ovary	ovary
24	chr19:38997400-38998400	Enhancers	HMEC	breast
25	chr19:38997400-38998600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:38997600-38998200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:38997600-38998200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:38997600-38998200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr19:38997600-38998200	Active TSS	A549	lung
30	chr19:38997600-38998200	Weak transcription	HSMMtube	muscle
31	chr19:38997600-38998200	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr19:38997600-38998600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr19:38997600-38998600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:38997600-38998800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr19:38997600-38999200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:38997600-38999400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:38997600-39000000	Enhancers	K562	blood
38	chr19:38997600-39007000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr19:38997600-39025400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:38997800-38998000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:38997800-38998000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr19:38997800-38998000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:38997800-38998400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr19:38997800-38998400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:38997800-38998600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr19:38997800-38998600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:38997800-38999600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:38997800-39005600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr19:38998000-38998400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:38998000-38998400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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