Variant report

Variant	rs575788809
Chromosome Location	chr19:42371017-42371018
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42370513..42373649-chr19:42375625..42377894,4	MCF-7	breast:
2	chr19:42354940..42358615-chr19:42368975..42372693,4	K562	blood:
3	chr19:42354721..42357873-chr19:42369180..42372292,3	MCF-7	breast:
4	chr19:42369015..42372839-chr19:42460520..42463128,4	K562	blood:
5	chr19:42356783..42358615-chr19:42370430..42372693,2	K562	blood:
6	chr19:42346920..42348959-chr19:42369071..42372047,3	K562	blood:
7	chr19:42370231..42372294-chr19:42382726..42385087,2	MCF-7	breast:
8	chr19:42346995..42348950-chr19:42370547..42372069,2	K562	blood:
9	chr19:42370381..42372317-chr19:42457829..42459618,2	MCF-7	breast:
10	chr19:42369679..42372709-chr19:42429800..42433926,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142025	Chromatin interaction
ENSG00000183103	Chromatin interaction
ENSG00000105404	Chromatin interaction
ENSG00000076928	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv911776	chr19:42343526-42416056	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv911778	chr19:42358362-42416056	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv932623	chr19:42370540-42378620	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42365400-42374800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:42365400-42375000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:42365400-42376200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:42365400-42376600	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr19:42365600-42374600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr19:42365600-42374800	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr19:42365800-42374600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:42365800-42374800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr19:42365800-42375000	Genic enhancers	Fetal Intestine Small	intestine
10	chr19:42366000-42374800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr19:42366000-42376000	Strong transcription	HSMMtube	muscle
12	chr19:42366400-42377600	Strong transcription	Fetal Brain Female	brain
13	chr19:42366600-42374400	Strong transcription	Thymus	Thymus
14	chr19:42366600-42375000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:42366800-42374800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:42367000-42372000	Genic enhancers	Duodenum Mucosa	Duodenum
17	chr19:42367000-42373800	Weak transcription	Right Atrium	heart
18	chr19:42367000-42376600	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr19:42367000-42376800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:42367200-42377200	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr19:42367400-42371600	Strong transcription	Fetal Intestine Large	intestine
22	chr19:42367400-42372600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr19:42367400-42375600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:42367600-42371400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:42367600-42372400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:42367600-42374800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:42367600-42374800	Genic enhancers	HepG2	liver
28	chr19:42367600-42375200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
29	chr19:42367600-42375600	Strong transcription	Right Ventricle	heart
30	chr19:42367600-42376200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:42367600-42379200	Weak transcription	Fetal Brain Male	brain
32	chr19:42367800-42373400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr19:42367800-42374400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:42367800-42374800	Strong transcription	Brain Anterior Caudate	brain
35	chr19:42367800-42375800	Strong transcription	Left Ventricle	heart
36	chr19:42367800-42376200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:42368400-42376600	Strong transcription	Brain Cingulate Gyrus	brain
38	chr19:42368600-42376200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:42368800-42372600	Strong transcription	Spleen	Spleen
40	chr19:42368800-42373800	Strong transcription	Osteobl	bone
41	chr19:42368800-42374400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:42368800-42374400	Genic enhancers	Dnd41	blood
43	chr19:42368800-42376200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:42368800-42376200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:42368800-42377000	Strong transcription	Fetal Stomach	stomach
46	chr19:42368800-42377400	Strong transcription	Brain Germinal Matrix	brain
47	chr19:42369000-42371800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:42369000-42371800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:42369000-42372000	Weak transcription	Primary B cells from cord blood	blood
50	chr19:42369000-42372200	Strong transcription	H1 Cell Line	embryonic stem cell

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