Variant report

Variant	rs487554
Chromosome Location	chr19:35710888-35710889
allele	C/T
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	chr19:35710097..35713394-chr19:35713828..35718765,5	K562	blood:
2	chr19:35709988..35712709-chr19:35738668..35741573,3	K562	blood:
3	chr19:35710070..35713514-chr19:35713713..35717849,5	K562	blood:
4	chr19:35689192..35690781-chr19:35710324..35712969,2	K562	blood:
5	chr19:35632266..35634042-chr19:35710575..35712827,2	K562	blood:
6	chr19:35706486..35711228-chr19:35738412..35741324,6	MCF-7	breast:
7	chr19:35709723..35716939-chr19:35736912..35742309,9	K562	blood:
8	chr19:35632475..35634042-chr19:35710575..35712754,2	K562	blood:
9	chr19:35707916..35709808-chr19:35710206..35712590,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153902	Chromatin interaction
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10403023	0.98[ASN][1000 genomes]
rs10425008	0.85[AFR][1000 genomes]
rs10425846	0.98[ASN][1000 genomes]
rs11084808	0.85[AFR][1000 genomes]
rs12463330	0.84[AFR][1000 genomes]
rs12982723	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1633924	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1688010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1688011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1688012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2188328	0.81[AFR][1000 genomes]
rs2214021	0.88[AFR][1000 genomes]
rs28579145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247282	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107155	0.80[AFR][1000 genomes]
rs8182468	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv1067541	chr19:35698638-35712439	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2763203	chr19:35700047-35738400	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35705200-35711200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:35705400-35711200	Weak transcription	Small Intestine	intestine
3	chr19:35705400-35715200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:35705600-35711400	Weak transcription	Pancreas	Pancrea
5	chr19:35706000-35711200	Weak transcription	Fetal Heart	heart
6	chr19:35706000-35711200	Weak transcription	Fetal Intestine Large	intestine
7	chr19:35706000-35715200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:35707000-35714200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:35708000-35711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:35708000-35711200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:35708000-35713600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:35708000-35714400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:35708200-35711000	Weak transcription	Stomach Mucosa	stomach
14	chr19:35708200-35711200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:35708200-35711200	Weak transcription	Lung	lung
16	chr19:35708200-35711600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:35708200-35715000	Weak transcription	Gastric	stomach
18	chr19:35708600-35711200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr19:35710200-35711200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr19:35710200-35713600	Enhancers	Primary hematopoietic stem cells	blood
21	chr19:35710200-35717000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:35710400-35711400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr19:35710600-35711200	Enhancers	K562	blood
24	chr19:35710600-35711800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr19:35710600-35712000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:35710600-35712400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr19:35710600-35717000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:35710800-35715600	Weak transcription	Spleen	Spleen

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