Variant report

Variant	esv1820125
Chromosome Location	chr19:38424904-38427984
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:38393450..38400778-chr19:38419865..38427350,17	MCF-7	breast:
2	chr19:38427297..38430730-chr19:38431010..38433796,3	K562	blood:
3	chr19:38424879..38427033-chr19:38465266..38467452,2	MCF-7	breast:
4	chr19:38395808..38398765-chr19:38427485..38430448,3	MCF-7	breast:
5	chr19:38423561..38425591-chr19:38488215..38490133,2	MCF-7	breast:
6	chr19:38423922..38426366-chr19:38436893..38438716,2	MCF-7	breast:
7	chr19:38424099..38425742-chr19:38427157..38428812,2	K562	blood:
8	chr19:38423743..38426556-chr19:38482738..38484356,2	MCF-7	breast:
9	chr19:38396824..38398829-chr19:38427494..38430432,2	MCF-7	breast:
10	chr19:38405526..38407086-chr19:38423053..38425586,2	MCF-7	breast:
11	chr19:38426351..38429541-chr19:38429679..38432396,3	MCF-7	breast:
12	chr19:38424099..38425742-chr19:38427157..38428812,2	K562	blood:
13	chr19:38395556..38401665-chr19:38419693..38425913,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171804	chromatin interactions
ENSG00000105738	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182584899	chr19:38424905-38424906	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372458635	chr19:38424907-38424908	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs149773890	chr19:38424923-38424924	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576574034	chr19:38424929-38424930	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533052071	chr19:38424977-38424978	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551549062	chr19:38425051-38425052	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10415548	chr19:38425053-38425054	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534441899	chr19:38425069-38425070	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555523131	chr19:38425096-38425097	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs201696373	chr19:38425141-38425142	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186699072	chr19:38425156-38425157	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs112046274	chr19:38425159-38425160	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs79793176	chr19:38425173-38425174	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148923847	chr19:38425203-38425204	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190364653	chr19:38425213-38425214	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553875900	chr19:38425236-38425237	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs77100622	chr19:38425281-38425282	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs181182440	chr19:38425304-38425305	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143730235	chr19:38425308-38425309	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573839620	chr19:38425343-38425344	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544558983	chr19:38425378-38425379	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs138387843	chr19:38425432-38425433	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532986990	chr19:38425455-38425456	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185785796	chr19:38425553-38425554	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376511034	chr19:38425554-38425555	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs189707527	chr19:38425557-38425558	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs527414214	chr19:38425608-38425609	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182330114	chr19:38425698-38425699	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs34405830	chr19:38425713-38425714	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567770199	chr19:38425733-38425734	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531872815	chr19:38425741-38425742	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs142218898	chr19:38425742-38425743	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571284379	chr19:38425751-38425752	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs559570687	chr19:38425752-38425753	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs553765418	chr19:38425853-38425854	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs566119253	chr19:38425911-38425912	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371167361	chr19:38425917-38425918	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs186278600	chr19:38425946-38425947	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201538411	chr19:38426001-38426002	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs705494	chr19:38426036-38426037	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs55983118	chr19:38426068-38426069	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs145910120	chr19:38426124-38426125	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs556534591	chr19:38426135-38426136	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs371388830	chr19:38426257-38426258	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs61201466	chr19:38426324-38426325	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs544996546	chr19:38426377-38426378	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559893064	chr19:38426378-38426379	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376185910	chr19:38426383-38426384	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs563523847	chr19:38426384-38426385	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs111680356	chr19:38426422-38426423	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Attention deficit hyperactivity disorder	22138692	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:38411800-38426200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:38418800-38425600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:38420200-38425000	Weak transcription	Small Intestine	intestine
6	chr19:38421200-38425000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:38421800-38425400	Enhancers	Fetal Muscle Trunk	muscle
8	chr19:38421800-38425400	Enhancers	Fetal Muscle Leg	muscle
9	chr19:38422000-38426400	Weak transcription	Primary T cells from cord blood	blood
10	chr19:38422200-38425000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:38422200-38425600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:38422400-38425000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:38422400-38425000	Enhancers	Psoas Muscle	Psoas
14	chr19:38422400-38425000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr19:38422600-38425000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:38423000-38425200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:38423000-38425400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:38423000-38438200	Weak transcription	Brain Angular Gyrus	brain
19	chr19:38423200-38425000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:38423200-38425000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr19:38423200-38425000	Enhancers	HSMMtube	muscle
22	chr19:38423200-38425800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr19:38423200-38426000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:38423200-38426200	Weak transcription	Ovary	ovary
25	chr19:38423200-38426600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:38423200-38443000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:38423400-38425000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:38423400-38425000	Enhancers	Esophagus	oesophagus
29	chr19:38423400-38425200	Enhancers	HSMM	muscle
30	chr19:38423400-38425200	Enhancers	NH-A	brain
31	chr19:38423400-38425800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:38423400-38426000	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:38423400-38426000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:38423400-38426400	Weak transcription	Brain Germinal Matrix	brain
35	chr19:38423400-38427600	Enhancers	Liver	Liver
36	chr19:38423400-38433800	Weak transcription	Thymus	Thymus
37	chr19:38423600-38425000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr19:38423600-38425000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr19:38423600-38425000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr19:38423600-38425000	Enhancers	Right Ventricle	heart
41	chr19:38423600-38425000	Flanking Active TSS	HepG2	liver
42	chr19:38423600-38425200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr19:38423600-38425200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr19:38423600-38425200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:38423600-38425400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr19:38423600-38425600	Weak transcription	Brain Anterior Caudate	brain
47	chr19:38423600-38425800	Enhancers	HMEC	breast
48	chr19:38423600-38444400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:38423800-38425000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:38424000-38425000	Enhancers	Adipose Nuclei	Adipose

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