Variant report

Variant	esv3331220
Chromosome Location	chr19:55944540-55947838
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:2)
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	chr19:55917469..55921438-chr19:55945356..55952187,11	K562	blood:
2	chr19:55941660..55944009-chr19:55947718..55950362,2	MCF-7	breast:
3	chr19:55942273..55945441-chr19:55953460..55955338,3	K562	blood:
4	chr19:55901062..55903652-chr19:55943271..55945381,2	K562	blood:
5	chr19:55917216..55921744-chr19:55947360..55952144,9	K562	blood:
6	chr19:55917487..55920420-chr19:55941767..55946909,5	MCF-7	breast:
7	chr19:55915970..55920672-chr19:55938294..55944595,9	K562	blood:
8	chr19:55947182..55950388-chr19:55950441..55953664,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ISOC2-3	chr19:55945594-55945642	NONHSAT068037
2	lnc-ISOC2-3	chr19:55945844-55946911	NONHSAT068037

No data

Variant related genes	Relation type
ENSG00000187902	chromatin interactions
ENSG00000108106	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562610416	chr19:55944665-55944666	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532701898	chr19:55944683-55944684	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552128696	chr19:55944708-55944709	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs28569041	chr19:55944816-55944817	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs375494849	chr19:55944876-55944877	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562562295	chr19:55944885-55944886	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531656729	chr19:55945025-55945026	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368885389	chr19:55945026-55945027	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs202168345	chr19:55945061-55945062	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548198173	chr19:55945072-55945073	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548670002	chr19:55945123-55945124	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs114502587	chr19:55945218-55945219	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529891631	chr19:55945250-55945251	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559880465	chr19:55945253-55945254	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546514068	chr19:55945277-55945278	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs566754468	chr19:55945291-55945292	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185075664	chr19:55945316-55945317	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189030981	chr19:55945324-55945325	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201829253	chr19:55945365-55945366	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs73606260	chr19:55945368-55945369	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs199988348	chr19:55945371-55945372	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200867422	chr19:55945372-55945373	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs386811069	chr19:55945373-55945374	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200649689	chr19:55945375-55945376	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554644670	chr19:55945377-55945378	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs140883299	chr19:55945380-55945381	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs377277324	chr19:55945457-55945458	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191988521	chr19:55945500-55945501	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150158774	chr19:55945554-55945555	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577091329	chr19:55945596-55945597	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs546102481	chr19:55945629-55945630	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs562500967	chr19:55945631-55945632	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs531595848	chr19:55945638-55945639	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs374267856	chr19:55945644-55945645	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111525640	chr19:55945663-55945664	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200094148	chr19:55945666-55945667	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539803378	chr19:55945680-55945681	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368853525	chr19:55945681-55945682	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs72530653	chr19:55945682-55945683	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200995192	chr19:55945683-55945684	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201970924	chr19:55945708-55945709	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201853837	chr19:55945713-55945714	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535760395	chr19:55945762-55945763	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538856764	chr19:55945779-55945780	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541901572	chr19:55945791-55945792	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs199841720	chr19:55945816-55945817	ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373479190	chr19:55945826-55945827	ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562198705	chr19:55945831-55945832	ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550753349	chr19:55945843-55945844	ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546746325	chr19:55945849-55945850	ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55941200-55953400	Weak transcription	Right Atrium	heart
2	chr19:55941400-55944600	Strong transcription	Brain Inferior Temporal Lobe	brain
3	chr19:55941600-55946800	Strong transcription	Brain Cingulate Gyrus	brain
4	chr19:55942600-55945000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:55943000-55945800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:55943800-55944600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:55943800-55945600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:55944200-55952400	Weak transcription	Brain Angular Gyrus	brain
9	chr19:55944400-55944600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:55944400-55944600	Bivalent Enhancer	Brain Hippocampus Middle	brain
11	chr19:55944400-55944600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr19:55944400-55944600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr19:55944400-55944600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr19:55944400-55945200	Weak transcription	Pancreas	Pancrea
15	chr19:55944600-55944800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:55944600-55945000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:55944600-55945400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:55944600-55945800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:55944800-55945000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:55944800-55945000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr19:55945000-55945200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:55945000-55945200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:55945200-55945400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr19:55945200-55945400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:55945200-55945400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr19:55945200-55945400	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr19:55945200-55945800	Enhancers	Gastric	stomach
28	chr19:55945200-55945800	Enhancers	Pancreas	Pancrea
29	chr19:55945200-55948200	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:55945400-55947000	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr19:55945600-55945800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:55945600-55945800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:55945600-55945800	Bivalent/Poised TSS	Fetal Kidney	kidney
34	chr19:55945600-55946600	Bivalent Enhancer	Esophagus	oesophagus
35	chr19:55945600-55946800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:55945800-55946000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
37	chr19:55945800-55946000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:55945800-55946000	ZNF genes & repeats	Fetal Kidney	kidney
39	chr19:55945800-55946000	Bivalent Enhancer	Gastric	stomach
40	chr19:55945800-55946200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:55945800-55946200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr19:55945800-55946600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:55945800-55946600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:55945800-55946600	ZNF genes & repeats	Spleen	Spleen
45	chr19:55945800-55946600	ZNF genes & repeats	Hela-S3	cervix
46	chr19:55945800-55946800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr19:55945800-55946800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:55945800-55946800	Bivalent/Poised TSS	Fetal Lung	lung
49	chr19:55945800-55946800	Genic enhancers	Pancreas	Pancrea
50	chr19:55946000-55946200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney

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