Variant report

Variant	nsv9672
Chromosome Location	chr19:20162638-20163700
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19887367..19888020-chr19:20162266..20162852,2	MCF-7	breast:
2	chr19:20153292..20157209-chr19:20159968..20162896,6	MCF-7	breast:
3	chr19:20159294..20161641-chr19:20161675..20163278,2	MCF-7	breast:
4	chr19:20150205..20157347-chr19:20159192..20163449,8	MCF-7	breast:
5	chr19:19886225..19889076-chr19:20160261..20164492,4	MCF-7	breast:
6	chr19:20161148..20163684-chr19:20228612..20230172,2	MCF-7	breast:
7	chr19:20158142..20160017-chr19:20161211..20163624,2	MCF-7	breast:
8	chr19:19886850..19889020-chr19:20162387..20164184,2	MCF-7	breast:
9	chr19:20160443..20163353-chr19:20178782..20180876,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197124	chromatin interactions
ENSG00000266904	chromatin interactions
ENSG00000267419	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182817735	chr19:20162666-20162667	Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs551749695	chr19:20162675-20162676	Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562226511	chr19:20162680-20162681	Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs6511071	chr19:20162695-20162696	Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs548006554	chr19:20162697-20162698	Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371728529	chr19:20162718-20162719	Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs568167791	chr19:20162780-20162781	Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs557242218	chr19:20162786-20162787	Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs536807054	chr19:20162812-20162813	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs550405862	chr19:20162813-20162814	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs570316697	chr19:20162814-20162815	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs6511072	chr19:20162824-20162825	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs545806019	chr19:20162882-20162883	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs558896505	chr19:20162887-20162888	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs572378178	chr19:20162888-20162889	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs11381975	chr19:20162924-20162925	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs397696128	chr19:20162925-20162926	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs368833129	chr19:20162926-20162927	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs55815247	chr19:20162928-20162929	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
20	rs370509352	chr19:20162929-20162930	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs373664323	chr19:20162930-20162931	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs6511073	chr19:20162941-20162942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs6511074	chr19:20162951-20162952	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs6511075	chr19:20162962-20162963	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs6511076	chr19:20162968-20162969	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs113898500	chr19:20162971-20162972	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs6511077	chr19:20162985-20162986	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs79487289	chr19:20162987-20162988	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs559276817	chr19:20163074-20163075	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs550851740	chr19:20163082-20163083	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs570783922	chr19:20163088-20163089	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs528045359	chr19:20163104-20163105	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs113365507	chr19:20163121-20163122	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs532370485	chr19:20163188-20163189	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs548182012	chr19:20163226-20163227	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs552578099	chr19:20163238-20163239	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs77668899	chr19:20163240-20163241	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs530624470	chr19:20163279-20163280	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs550393675	chr19:20163307-20163308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs570297692	chr19:20163346-20163347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs539318835	chr19:20163357-20163358	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs552568127	chr19:20163394-20163395	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs566379704	chr19:20163410-20163411	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs7248463	chr19:20163439-20163440	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143072076	chr19:20163449-20163450	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs187784307	chr19:20163466-20163467	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537186183	chr19:20163472-20163473	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111309380	chr19:20163486-20163487	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs75479600	chr19:20163509-20163510	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs74715117	chr19:20163510-20163511	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20162000-20162800	Active TSS	Primary B cells from cord blood	blood
2	chr19:20162000-20163000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr19:20162000-20164000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:20162200-20163200	Active TSS	Stomach Smooth Muscle	stomach
5	chr19:20162200-20163400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:20162200-20163400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:20162200-20163400	Active TSS	Primary T cells from cord blood	blood
8	chr19:20162200-20163400	Active TSS	Muscle Satellite Cultured Cells	--
9	chr19:20162200-20163400	Active TSS	Brain Cingulate Gyrus	brain
10	chr19:20162200-20163400	Active TSS	Brain Hippocampus Middle	brain
11	chr19:20162200-20163400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr19:20162200-20163400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr19:20162200-20163400	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr19:20162200-20163400	Active TSS	Right Ventricle	heart
15	chr19:20162200-20163400	Active TSS	HSMMtube	muscle
16	chr19:20162200-20163400	Active TSS	NH-A	brain
17	chr19:20162200-20163400	Active TSS	Osteobl	bone
18	chr19:20162200-20163800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:20162200-20163800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:20162200-20163800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:20162200-20164000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:20162200-20164000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr19:20162200-20164000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:20162200-20164000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:20162200-20164000	Active TSS	Brain Germinal Matrix	brain
26	chr19:20162200-20164000	Active TSS	NHDF-Ad	bronchial
27	chr19:20162400-20162800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:20162400-20162800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr19:20162400-20162800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr19:20162400-20162800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr19:20162400-20162800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr19:20162400-20162800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr19:20162400-20162800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:20162400-20162800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr19:20162400-20162800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr19:20162400-20162800	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr19:20162400-20163000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:20162400-20163200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:20162400-20163200	Active TSS	Liver	Liver
40	chr19:20162400-20163200	Active TSS	Placenta Amnion	Placenta Amnion
41	chr19:20162400-20163400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr19:20162400-20163400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:20162400-20163400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:20162400-20163400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr19:20162400-20163400	Active TSS	Primary T cells fromperipheralblood	blood
46	chr19:20162400-20163400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:20162400-20163400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr19:20162400-20163400	Active TSS	Brain Anterior Caudate	brain
49	chr19:20162400-20163400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr19:20162400-20163400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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