Variant report

Variant	rs2169868
Chromosome Location	chr3:140946428-140946429
allele	A/G
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	EP300	chr3:140945422-140948945	SK-N-SH	brain:	n/a	chr3:140945945-140945959 chr3:140946516-140946530
2	TCF12	chr3:140946381-140947172	SK-N-SH	brain:	n/a	chr3:140947004-140947011
3	GATA3	chr3:140946409-140947090	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140945385..140947466-chr3:140997029..140999166,2	MCF-7	breast:
2	chr3:140945648..140947286-chr3:140948791..140951390,2	K562	blood:

Variant related genes	Relation type
ACPL2	TF binding region
ENSG00000155893	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1397798	0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs1511370	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs1511378	0.82[CEU][hapmap]
rs1511386	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1877219	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2063464	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4308250	0.88[JPT][hapmap]
rs4683584	0.82[EUR][1000 genomes]
rs4683588	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs6439984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6439985	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6439990	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6439993	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs6798093	0.94[CEU][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7629077	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs899349	0.82[EUR][1000 genomes]
rs9289627	0.88[CEU][hapmap]
rs9817668	0.82[EUR][1000 genomes]
rs9990218	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140937600-140946800	Weak transcription	Thymus	Thymus
2	chr3:140940000-140949400	Weak transcription	Fetal Heart	heart
3	chr3:140945200-140947600	Enhancers	Dnd41	blood
4	chr3:140945600-140948000	Enhancers	Fetal Intestine Large	intestine
5	chr3:140945600-140949800	Enhancers	Fetal Stomach	stomach
6	chr3:140945600-140950000	Enhancers	Fetal Lung	lung
7	chr3:140945800-140949600	Enhancers	Fetal Thymus	thymus
8	chr3:140946000-140947000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr3:140946000-140947600	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:140946000-140948000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:140946000-140948200	Enhancers	Brain Germinal Matrix	brain
12	chr3:140946000-140949800	Enhancers	Fetal Intestine Small	intestine
13	chr3:140946000-140950000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:140946000-140950000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:140946200-140947000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:140946200-140947200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:140946200-140947400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:140946200-140947400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:140946200-140947800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:140946200-140948200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:140946400-140946600	Enhancers	NH-A	brain
22	chr3:140946400-140947000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:140946400-140947000	Enhancers	HSMM	muscle
24	chr3:140946400-140947200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:140946400-140947800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:140946400-140947800	Weak transcription	Fetal Kidney	kidney

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