Variant report

Variant	esv3338654
Chromosome Location	chr19:55776996-55778046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55777829..55780737-chr19:55781551..55785308,5	K562	blood:
2	chr19:55773531..55777148-chr19:55894970..55897401,3	K562	blood:
3	chr19:55777858..55780757-chr19:55781409..55785312,6	K562	blood:
4	chr19:55774274..55779427-chr19:55781222..55784326,4	MCF-7	breast:
5	chr19:55776217..55777883-chr19:55788323..55791248,2	MCF-7	breast:
6	chr19:55776171..55778320-chr19:55895617..55898600,2	MCF-7	breast:
7	chr19:55774813..55777090-chr19:55892887..55895596,2	MCF-7	breast:
8	chr19:55769636..55772439-chr19:55775866..55779164,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133265	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000105063	chromatin interactions
ENSG00000233493	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548660007	chr19:55777024-55777025	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs75303175	chr19:55777030-55777031	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs544057157	chr19:55777116-55777117	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs62126349	chr19:55777143-55777144	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558023332	chr19:55777145-55777146	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs571451209	chr19:55777174-55777175	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs149637131	chr19:55777200-55777201	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs557444127	chr19:55777209-55777210	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs373937961	chr19:55777210-55777211	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs113699144	chr19:55777211-55777212	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs376136999	chr19:55777230-55777231	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs370807972	chr19:55777233-55777234	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs374357747	chr19:55777280-55777281	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs144372487	chr19:55777350-55777351	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs367976956	chr19:55777353-55777354	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs148723334	chr19:55777354-55777355	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs373680814	chr19:55777357-55777358	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs367710178	chr19:55777375-55777376	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs548226704	chr19:55777457-55777458	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs372199060	chr19:55777458-55777459	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs573522562	chr19:55777468-55777469	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs377273946	chr19:55777479-55777480	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs545283338	chr19:55777526-55777527	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs151300521	chr19:55777571-55777572	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs371872619	chr19:55777583-55777584	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs532622031	chr19:55777589-55777590	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs375177521	chr19:55777596-55777597	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs368611870	chr19:55777605-55777606	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs565167097	chr19:55777613-55777614	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs372338506	chr19:55777663-55777664	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs377149550	chr19:55777666-55777667	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs369291149	chr19:55777686-55777687	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs373368837	chr19:55777695-55777696	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs202071214	chr19:55777713-55777714	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs112713310	chr19:55777714-55777715	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs201561773	chr19:55777736-55777737	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs369274923	chr19:55777752-55777753	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs530231680	chr19:55777760-55777761	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs377496908	chr19:55777765-55777766	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs372948354	chr19:55777793-55777794	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs148490036	chr19:55777794-55777795	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs375958184	chr19:55777801-55777802	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs544362627	chr19:55777803-55777804	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs370225281	chr19:55777804-55777805	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs373681804	chr19:55777816-55777817	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs190154726	chr19:55777818-55777819	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs372257113	chr19:55777825-55777826	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs367587761	chr19:55777828-55777829	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs367759739	chr19:55777843-55777844	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs62126350	chr19:55777844-55777845	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55771200-55777600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:55771400-55777600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:55771400-55777600	Weak transcription	Fetal Kidney	kidney
4	chr19:55771400-55777800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr19:55771400-55777800	Weak transcription	Brain Angular Gyrus	brain
6	chr19:55771400-55777800	Weak transcription	NHLF	lung
7	chr19:55771400-55780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:55771400-55780600	Weak transcription	Brain Substantia Nigra	brain
9	chr19:55771400-55780800	Weak transcription	Right Ventricle	heart
10	chr19:55771400-55781400	Weak transcription	Liver	Liver
11	chr19:55771400-55783600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:55771400-55784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:55771400-55787800	Weak transcription	Osteobl	bone
14	chr19:55771400-55788400	Weak transcription	Stomach Mucosa	stomach
15	chr19:55771400-55790400	Weak transcription	HSMM	muscle
16	chr19:55771400-55790400	Weak transcription	NHDF-Ad	bronchial
17	chr19:55771400-55791600	Weak transcription	Fetal Heart	heart
18	chr19:55771600-55777000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:55771600-55777200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:55771600-55777400	Weak transcription	Spleen	Spleen
21	chr19:55771600-55777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:55771600-55777600	Weak transcription	Fetal Lung	lung
23	chr19:55771600-55777600	Weak transcription	Pancreas	Pancrea
24	chr19:55771600-55777800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr19:55771600-55777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:55771600-55777800	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:55771600-55777800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr19:55771600-55777800	Weak transcription	Fetal Brain Male	brain
29	chr19:55771600-55777800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr19:55771600-55779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:55771600-55779200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr19:55771600-55779800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:55771600-55780600	Weak transcription	Brain Anterior Caudate	brain
34	chr19:55771600-55781000	Weak transcription	Adipose Nuclei	Adipose
35	chr19:55771600-55781800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:55771600-55781800	Weak transcription	Aorta	Aorta
37	chr19:55771600-55782600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:55771600-55783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:55771600-55783400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:55771600-55783600	Weak transcription	Placenta	Placenta
41	chr19:55771600-55785200	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:55771600-55788000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr19:55771600-55790400	Weak transcription	HUVEC	blood vessel
44	chr19:55771800-55777800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:55771800-55781000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr19:55771800-55781600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:55771800-55783000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr19:55771800-55788000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:55772000-55777600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:55772000-55777600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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