Variant report

Variant	nsv828640
Chromosome Location	chr19:55941819-55942960
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	chr19:55941660..55944009-chr19:55947718..55950362,2	MCF-7	breast:
2	chr19:55915970..55920672-chr19:55938294..55944595,9	K562	blood:
3	chr19:55942273..55945441-chr19:55953460..55955338,3	K562	blood:
4	chr19:55934305..55936521-chr19:55941153..55942887,2	K562	blood:
5	chr19:55911306..55913979-chr19:55941280..55943046,2	K562	blood:
6	chr19:55934645..55937575-chr19:55940137..55944163,4	K562	blood:
7	chr19:55917487..55920420-chr19:55941767..55946909,5	MCF-7	breast:
8	chr19:55917961..55920276-chr19:55940562..55944093,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108106	chromatin interactions
ENSG00000267093	chromatin interactions
ENSG00000187902	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557038141	chr19:55941823-55941824	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs4075908	chr19:55941827-55941828	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs35399854	chr19:55941837-55941838	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192601970	chr19:55941842-55941843	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542654231	chr19:55941894-55941895	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559171954	chr19:55941915-55941916	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73932635	chr19:55941987-55941988	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551980619	chr19:55942064-55942065	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371754958	chr19:55942126-55942127	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375070084	chr19:55942133-55942134	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531191268	chr19:55942161-55942162	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150703704	chr19:55942214-55942215	Strong transcription ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568010013	chr19:55942255-55942256	Strong transcription ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536244109	chr19:55942268-55942269	Strong transcription ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139997672	chr19:55942281-55942282	Strong transcription ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs566831419	chr19:55942309-55942310	Strong transcription ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs10417785	chr19:55942456-55942457	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557494406	chr19:55942459-55942460	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs577423395	chr19:55942490-55942491	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs369384023	chr19:55942497-55942498	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs556833614	chr19:55942520-55942521	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs28612745	chr19:55942550-55942551	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs115182377	chr19:55942682-55942683	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs111723684	chr19:55942749-55942750	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs559327054	chr19:55942774-55942775	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs528143748	chr19:55942856-55942857	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs545136710	chr19:55942858-55942859	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs565433320	chr19:55942885-55942886	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs144690424	chr19:55942913-55942914	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	3 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
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55940400-55942200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:55941200-55944400	Strong transcription	Brain Hippocampus Middle	brain
3	chr19:55941200-55953400	Weak transcription	Right Atrium	heart
4	chr19:55941400-55944600	Strong transcription	Brain Inferior Temporal Lobe	brain
5	chr19:55941600-55942800	Strong transcription	Fetal Brain Female	brain
6	chr19:55941600-55944200	Strong transcription	Brain Angular Gyrus	brain
7	chr19:55941600-55946800	Strong transcription	Brain Cingulate Gyrus	brain
8	chr19:55941800-55943200	Strong transcription	Brain Substantia Nigra	brain
9	chr19:55941800-55943400	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr19:55941800-55943600	Strong transcription	Brain Anterior Caudate	brain
11	chr19:55942200-55942400	Bivalent/Poised TSS	Fetal Brain Male	brain
12	chr19:55942200-55943800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:55942600-55945000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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