Variant report

Variant	rs12084977
Chromosome Location	chr1:93495122-93495123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr1:93495002-93495245	GM12878	blood:	n/a	chr1:93495148-93495161
2	RUNX3	chr1:93494819-93495291	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93493844..93495450-chr1:93525930..93527938,2	K562	blood:

Variant related genes	Relation type
ENSG00000251837	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10874754	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164862	1.00[CEU][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11164865	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11590314	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12091867	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12092136	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12094815	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2485031	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2785601	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs491699	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs569268	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59284207	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61523335	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6657919	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6686863	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688632	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103530	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536849	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93488000-93504200	Enhancers	Fetal Thymus	thymus
2	chr1:93492400-93497600	Enhancers	Thymus	Thymus
3	chr1:93493600-93496000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr1:93493600-93496800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:93493800-93495800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:93493800-93495800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:93493800-93496200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:93494000-93495600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:93494000-93495800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:93494000-93496200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:93494000-93496200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:93494200-93495600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:93494200-93496400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:93494800-93495400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:93494800-93495400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:93494800-93495400	Enhancers	GM12878-XiMat	blood
17	chr1:93494800-93495600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:93494800-93495600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:93494800-93496000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:93494800-93498800	Enhancers	Dnd41	blood
21	chr1:93495000-93495400	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr1:93495000-93495600	Enhancers	Primary B cells from cord blood	blood

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