Variant report

Variant	rs12594877
Chromosome Location	chr15:58651181-58651182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58647611..58649927-chr15:58650284..58652230,2	K562	blood:
2	chr15:58649963..58652081-chr15:58653053..58654968,2	K562	blood:
3	chr15:58612654..58614293-chr15:58650155..58652635,2	K562	blood:
4	chr15:58629848..58632165-chr15:58650024..58652398,2	K562	blood:
5	chr15:58635844..58637579-chr15:58649793..58652306,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12591174	0.93[ASN][1000 genomes]
rs12591717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593594	0.93[ASN][1000 genomes]
rs12595797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261327	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261330	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261331	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28420113	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28420473	0.93[ASN][1000 genomes]
rs453179	0.91[EUR][1000 genomes]
rs57309903	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57332180	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57904600	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60890108	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61040482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176512	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	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
7	nsv904266	chr15:58580921-58689187	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1041779	chr15:58634768-58662280	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58640800-58652800	Weak transcription	Fetal Kidney	kidney
2	chr15:58642600-58655800	Weak transcription	Right Atrium	heart
3	chr15:58646000-58652000	Enhancers	Fetal Thymus	thymus
4	chr15:58647400-58651200	Enhancers	GM12878-XiMat	blood
5	chr15:58648200-58653200	Weak transcription	HSMMtube	muscle
6	chr15:58648200-58653600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:58648800-58651600	Enhancers	Primary T cells from cord blood	blood
8	chr15:58649200-58651400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr15:58649200-58651400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr15:58649200-58651400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr15:58649400-58651200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr15:58649400-58651400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr15:58649400-58651400	Enhancers	Thymus	Thymus
14	chr15:58649600-58651200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:58649600-58651200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:58649600-58651200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:58649600-58656000	Enhancers	Placenta	Placenta
18	chr15:58650200-58652400	Weak transcription	Hela-S3	cervix
19	chr15:58650200-58653400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:58650400-58652000	Weak transcription	K562	blood
21	chr15:58650400-58652800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:58650400-58653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:58650800-58651200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:58650800-58652200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:58650800-58654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:58650800-58654400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:58651000-58651200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr15:58651000-58655000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:58651000-58655400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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