Variant report

Variant	rs12592127
Chromosome Location	chr15:58837089-58837090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58836656..58842196-chr15:58843431..58849915,8	K562	blood:
2	chr15:58810857..58816650-chr15:58835363..58842392,10	K562	blood:
3	chr15:58821255..58823179-chr15:58836509..58838748,2	K562	blood:

Variant related genes	Relation type
ENSG00000259476	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12592139	0.82[YRI][hapmap]
rs4775075	0.82[JPT][hapmap]
rs6082	0.87[JPT][hapmap]
rs74017973	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv569601	chr15:58800766-58866156	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58821600-58838000	Weak transcription	Right Atrium	heart
2	chr15:58826600-58837800	Weak transcription	Spleen	Spleen
3	chr15:58827600-58843400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:58828400-58838000	Weak transcription	HepG2	liver
5	chr15:58828600-58839000	Weak transcription	Pancreas	Pancrea
6	chr15:58829000-58847600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:58829400-58838200	Strong transcription	Liver	Liver
8	chr15:58832200-58838000	Weak transcription	HSMMtube	muscle
9	chr15:58833200-58837400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:58835000-58837800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:58835600-58837600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:58835600-58843200	Weak transcription	Thymus	Thymus
13	chr15:58836000-58838400	Enhancers	K562	blood
14	chr15:58836200-58837600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:58836200-58838600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:58836200-58839000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr15:58836400-58838000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:58836400-58838600	Enhancers	Dnd41	blood
19	chr15:58836600-58838600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:58836800-58838200	Enhancers	Fetal Brain Male	brain
21	chr15:58836800-58838600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr15:58837000-58837200	Enhancers	Ovary	ovary
23	chr15:58837000-58837800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr15:58837000-58838400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr15:58837000-58838400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:58837000-58838400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr15:58837000-58838600	Enhancers	Primary T cells from cord blood	blood
28	chr15:58837000-58838800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr15:58837000-58840600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:58837000-58848400	Enhancers	Fetal Thymus	thymus

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