Variant report

Variant	rs10420516
Chromosome Location	chr19:39797287-39797288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39617953..39620169-chr19:39796601..39798987,2	MCF-7	breast:
2	chr19:39786963..39789424-chr19:39795877..39798422,3	K562	blood:
3	chr19:39794106..39797864-chr19:39814287..39817446,3	K562	blood:
4	chr19:39786963..39789288-chr19:39795877..39797558,2	K562	blood:
5	chr19:39766722..39768435-chr19:39797064..39798738,2	MCF-7	breast:
6	chr19:39792656..39794675-chr19:39795955..39798100,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182393	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10401141	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10402464	1.00[EUR][1000 genomes]
rs10403438	1.00[AMR][1000 genomes]
rs251898	1.00[EUR][1000 genomes]
rs28787057	1.00[EUR][1000 genomes]
rs30476	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39787200-39797800	Weak transcription	Right Atrium	heart
2	chr19:39788800-39802200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr19:39789000-39801000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr19:39789400-39797800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:39789600-39803000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr19:39789800-39801600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr19:39790200-39802000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:39790400-39809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:39790600-39810000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:39791000-39797600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:39791000-39798400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr19:39794000-39797400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:39794000-39797600	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr19:39794800-39797400	Weak transcription	Placenta	Placenta
15	chr19:39795600-39797400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr19:39795600-39797600	Bivalent Enhancer	Fetal Intestine Small	intestine
17	chr19:39795800-39797600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:39796000-39797800	Enhancers	A549	lung
19	chr19:39796200-39797600	Enhancers	HepG2	liver
20	chr19:39796200-39797800	Weak transcription	Thymus	Thymus
21	chr19:39796400-39797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:39796400-39797400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:39796400-39797400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:39796400-39797400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:39796400-39798600	Weak transcription	Lung	lung
26	chr19:39796600-39801200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:39796800-39797400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr19:39797000-39797400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr19:39797000-39797800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:39797000-39797800	Bivalent Enhancer	Fetal Heart	heart
31	chr19:39797000-39798800	Weak transcription	Dnd41	blood
32	chr19:39797000-39799000	Weak transcription	K562	blood
33	chr19:39797200-39797400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
34	chr19:39797200-39797400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr19:39797200-39797400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:39797200-39797400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr19:39797200-39797400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr19:39797200-39797400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr19:39797200-39797800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:39797200-39797800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr19:39797200-39801000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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