Variant report

Variant	esv3327681
Chromosome Location	chr19:44645467-44645715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:44645218-44645811	HepG2	liver:	n/a	n/a
2	BACH1	chr19:44645457-44646285	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr19:44645357-44645965	A549	lung:	n/a	chr19:44645721-44645730
4	BCLAF1	chr19:44645496-44646278	GM12878	blood:	n/a	chr19:44645721-44645730 chr19:44645960-44645973
5	BHLHE40	chr19:44645475-44645961	GM12878	blood:	n/a	n/a
6	BHLHE40	chr19:44645493-44645862	K562	blood:	n/a	n/a
7	CBX3	chr19:44645323-44646298	K562	blood:	n/a	n/a
8	CEBPD	chr19:44645404-44646053	HepG2	liver:	n/a	n/a
9	CHD1	chr19:44645424-44646245	GM12878	blood:	n/a	chr19:44645963-44645973
10	CHD2	chr19:44645381-44646122	GM12878	blood:	n/a	chr19:44645963-44645973
11	CREB1	chr19:44645462-44645853	A549	lung:	n/a	n/a
12	CREB1	chr19:44645257-44646018	HepG2	liver:	n/a	n/a
13	CREB1	chr19:44645352-44646123	A549	lung:	n/a	n/a
14	CREB1	chr19:44645387-44646009	GM12878	blood:	n/a	n/a
15	CTBP2	chr19:44645593-44646133	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr19:44645660-44645810	AG04450	lung:	n/a	n/a
17	CTCF	chr19:44645680-44645830	GM12878	blood:	n/a	n/a
18	CTCF	chr19:44645660-44645810	HVMF	connective:	n/a	n/a
19	CTCF	chr19:44645660-44645810	HEK293	kidney:	n/a	n/a
20	CTCF	chr19:44645597-44645843	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr19:44645680-44645830	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr19:44645640-44645790	HMF	breast:	n/a	n/a
23	CTCF	chr19:44645680-44645830	AG04449	skin:	n/a	n/a
24	CTCF	chr19:44645680-44645830	AG09319	gingival:	n/a	n/a
25	CTCF	chr19:44645660-44645810	A549	lung:	n/a	n/a
26	CTCF	chr19:44645700-44645850	AG09309	skin:	n/a	n/a
27	CTCF	chr19:44645700-44645877	MCF-7	breast:	n/a	n/a
28	CTCF	chr19:44645699-44645869	GM19238	blood:	n/a	n/a
29	CTCF	chr19:44645680-44645830	HMEC	breast:	n/a	n/a
30	CTCF	chr19:44645616-44645968	GM12878	blood:	n/a	n/a
31	CTCF	chr19:44645600-44645750	A549	lung:	n/a	n/a
32	CTCF	chr19:44645700-44645850	GM06990	blood:	n/a	n/a
33	CTCF	chr19:44645660-44645810	HCPEpiC	choroid plexus:	n/a	n/a
34	CUX1	chr19:44645615-44645844	GM12878	blood:	n/a	n/a
35	E2F4	chr19:44645436-44645781	MCF10A-Er-Src	breast:	n/a	chr19:44645698-44645707
36	E2F6	chr19:44645590-44645814	K562	blood:	n/a	chr19:44645698-44645707
37	EBF1	chr19:44645669-44645803	GM12878	blood:	n/a	chr19:44645726-44645737
38	EGR1	chr19:44645384-44646020	HCT-116	colon:	n/a	chr19:44645737-44645751 chr19:44645673-44645697 chr19:44645721-44645730 chr19:44645825-44645849 chr19:44645967-44645977 chr19:44645894-44645907
39	EGR1	chr19:44645597-44645888	GM12878	blood:	n/a	chr19:44645737-44645751 chr19:44645673-44645697 chr19:44645721-44645730 chr19:44645825-44645849
40	EGR1	chr19:44645577-44645865	K562	blood:	n/a	chr19:44645737-44645751 chr19:44645673-44645697 chr19:44645721-44645730 chr19:44645825-44645849
41	EGR1	chr19:44645534-44645949	H1-hESC	embryonic stem cell:	n/a	chr19:44645737-44645751 chr19:44645673-44645697 chr19:44645721-44645730 chr19:44645825-44645849 chr19:44645894-44645907
42	EGR1	chr19:44645335-44646165	HCT-116	colon:	n/a	chr19:44645737-44645751 chr19:44645673-44645697 chr19:44645721-44645730 chr19:44646036-44646049 chr19:44645825-44645849 chr19:44645967-44645977 chr19:44645894-44645907
43	EGR1	chr19:44645564-44645883	K562	blood:	n/a	chr19:44645737-44645751 chr19:44645673-44645697 chr19:44645721-44645730 chr19:44645825-44645849
44	EGR1	chr19:44645579-44645859	GM12878	blood:	n/a	chr19:44645737-44645751 chr19:44645673-44645697 chr19:44645721-44645730 chr19:44645825-44645849
45	ELF1	chr19:44645361-44646279	A549	lung:	n/a	n/a
46	ELF1	chr19:44645416-44646315	GM12878	blood:	n/a	n/a
47	ELF1	chr19:44645481-44645935	HepG2	liver:	n/a	n/a
48	ELF1	chr19:44645466-44646103	K562	blood:	n/a	n/a
49	ELF1	chr19:44645405-44646064	HCT-116	colon:	n/a	n/a
50	ELF1	chr19:44645409-44646021	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44645539-44645589	AG09309	skin:	n/a
2	chr19:44645539-44645589	AG09309	skin:	n/a
3	chr19:44645715-44645765	ProgFib	skin:	n/a
4	chr19:44645662-44645712	HIPEpiC	eye:	n/a
5	chr19:44645459-44645509	Caco-2	colon:	n/a
6	chr19:44645662-44645712	PrEC	prostate:	n/a
7	chr19:44645459-44645509	GM19239	blood:	n/a
8	chr19:44645597-44645647	HRCEpiC	kidney:	n/a
9	chr19:44645597-44645647	HepG2	liver:	n/a
10	chr19:44645662-44645712	AG09309	skin:	n/a
11	chr19:44645715-44645765	HCF	heart:	n/a
12	chr19:44645539-44645589	HRCEpiC	kidney:	n/a
13	chr19:44645662-44645712	ovcar-3	ovarian:	n/a
14	chr19:44645539-44645589	ovcar-3	ovarian:	n/a
15	chr19:44645459-44645509	HRCEpiC	kidney:	n/a
16	chr19:44645597-44645647	MCF10A-Er-Src	breast:	n/a
17	chr19:44645715-44645765	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:44645597-44645647	PrEC	prostate:	n/a
19	chr19:44645532-44645582	Hela-S3	cervix:	n/a
20	chr19:44645715-44645765	ECC-1	luminal epithelium:	n/a
21	chr19:44645662-44645712	MCF-7	breast:	n/a
22	chr19:44645532-44645582	HPAEpiC	pulmonary alveolar:	n/a
23	chr19:44645539-44645589	ECC-1	luminal epithelium:	n/a
24	chr19:44645459-44645509	HAEpiC	amniotic membrane:	n/a
25	chr19:44645597-44645647	ovcar-3	ovarian:	n/a
26	chr19:44645662-44645712	RPTEC	kidney:	n/a
27	chr19:44645597-44645647	HEEpiC	esophagus:	n/a
28	chr19:44645539-44645589	SKMC	muscle:	n/a
29	chr19:44645662-44645712	K562	blood:	n/a
30	chr19:44645715-44645765	ovcar-3	ovarian:	n/a
31	chr19:44645459-44645509	H1-hESC	embryonic stem cell:	embryo
32	chr19:44645539-44645589	HUVEC	blood vessel:	n/a
33	chr19:44645459-44645509	SKMC	muscle:	n/a
34	chr19:44645597-44645647	Hepatocyte	liver:	n/a
35	chr19:44645532-44645582	HCM	heart:	n/a
36	chr19:44645715-44645765	LNCaP	prostate:	n/a
37	chr19:44645715-44645765	RPTEC	kidney:	n/a
38	chr19:44645532-44645582	GM12892	blood:	n/a
39	chr19:44645662-44645712	BJ	skin:	n/a
40	chr19:44645532-44645582	BE2_C	brain:	n/a
41	chr19:44645662-44645712	Caco-2	colon:	n/a
42	chr19:44645662-44645712	HRPEpiC	eye:	n/a
43	chr19:44645532-44645582	NHBE	bronchial:	n/a
44	chr19:44645715-44645765	SK-N-MC	brain:	n/a
45	chr19:44645459-44645509	NHDF-neo	bronchial:	n/a
46	chr19:44645715-44645765	AG04449	skin:	fetal
47	chr19:44645662-44645712	GM06990	blood:	n/a
48	chr19:44645532-44645582	K562	blood:	n/a
49	chr19:44645597-44645647	IMR90	lung:	fetal
50	chr19:44645597-44645647	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr19:44616455..44619109-chr19:44645010..44647245,2	K562	blood:
2	chr19:44616201..44619073-chr19:44644939..44647380,2	MCF-7	breast:
3	chr19:44643597..44647343-chr19:44667648..44671629,7	K562	blood:
4	chr19:44596713..44600957-chr19:44644435..44647275,5	MCF-7	breast:
5	chr19:44644162..44647190-chr19:44667490..44670508,3	MCF-7	breast:
6	chr19:44645711..44646307-chr6:26124012..26124592,2	NB4	blood:
7	chr19:44644669..44647100-chr19:44951741..44953337,2	K562	blood:
8	chr19:44643597..44646401-chr19:44667704..44670290,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF235-3	chr19:44644754-44645647	NONHSAT066670

Variant related genes	Relation type
ZNF234	TF binding region
ZNF234	CpG island
ENSG00000256294	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000186019	chromatin interactions
ENSG00000267680	chromatin interactions
ENSG00000267188	chromatin interactions
ENSG00000167383	chromatin interactions
ENSG00000167380	chromatin interactions
ENSG00000180596	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529600641	chr19:44645507-44645508	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs372443574	chr19:44645515-44645516	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs190931815	chr19:44645526-44645527	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs182131986	chr19:44645529-44645530	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs141249810	chr19:44645562-44645563	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs371358949	chr19:44645566-44645567	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
7	rs537877730	chr19:44645575-44645576	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
8	rs186781312	chr19:44645615-44645616	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs375689835	chr19:44645625-44645626	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs191656951	chr19:44645640-44645641	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs534240644	chr19:44645642-44645643	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs4802209	chr19:44645652-44645653	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572996235	chr19:44645661-44645662	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs563394446	chr19:44645705-44645706	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44644200-44646600	Active TSS	Colon Smooth Muscle	Colon
2	chr19:44644600-44646200	Active TSS	Right Ventricle	heart
3	chr19:44644800-44645600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:44644800-44645600	Flanking Active TSS	Liver	Liver
5	chr19:44644800-44645600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr19:44644800-44645600	Flanking Active TSS	Dnd41	blood
7	chr19:44644800-44646200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr19:44644800-44646400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:44644800-44646400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr19:44644800-44646400	Active TSS	GM12878-XiMat	blood
11	chr19:44644800-44646600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr19:44644800-44646600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:44644800-44646600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr19:44644800-44646600	Active TSS	Psoas Muscle	Psoas
15	chr19:44644800-44646800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:44644800-44646800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr19:44644800-44646800	Active TSS	Fetal Intestine Small	intestine
18	chr19:44644800-44647000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr19:44644800-44647000	Active TSS	HSMMtube	muscle
20	chr19:44644800-44647400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:44645000-44645600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr19:44645000-44645600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr19:44645000-44645600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr19:44645000-44645600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr19:44645000-44645600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr19:44645000-44645600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr19:44645000-44645600	Flanking Active TSS	HMEC	breast
28	chr19:44645000-44645600	Flanking Active TSS	HUVEC	blood vessel
29	chr19:44645000-44646200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:44645000-44646200	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr19:44645000-44646400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:44645000-44646400	Active TSS	Brain Substantia Nigra	brain
33	chr19:44645000-44646600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr19:44645000-44646600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:44645000-44646600	Active TSS	Esophagus	oesophagus
36	chr19:44645000-44646600	Active TSS	Hela-S3	cervix
37	chr19:44645000-44646600	Bivalent/Poised TSS	HepG2	liver
38	chr19:44645000-44646800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:44645000-44646800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:44645000-44646800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:44645000-44646800	Active TSS	Colonic Mucosa	Colon
42	chr19:44645000-44646800	Active TSS	Fetal Muscle Trunk	muscle
43	chr19:44645000-44646800	Active TSS	Ovary	ovary
44	chr19:44645000-44647000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:44645000-44647000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr19:44645000-44647000	Active TSS	NHDF-Ad	bronchial
47	chr19:44645200-44645600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr19:44645200-44645600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:44645200-44645600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:44645200-44645600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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