Variant report

Variant	rs2268491
Chromosome Location	chr3:8800398-8800399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:8799950..8802038-chr3:8806568..8810238,3	MCF-7	breast:
2	chr3:8790408..8792788-chr3:8798170..8802038,3	K562	blood:
3	chr3:8799307..8801037-chr3:8807230..8809409,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13319411	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2254295	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2254298	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62243369	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62243370	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][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	nsv1002850	chr3:8620788-8840656	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv876514	chr3:8749558-9119182	Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv589619	chr3:8782406-8857963	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:8785200-8806800	Weak transcription	Fetal Heart	heart
2	chr3:8791800-8807200	Weak transcription	GM12878-XiMat	blood
3	chr3:8794800-8810200	Weak transcription	Dnd41	blood
4	chr3:8795200-8803000	Weak transcription	NHLF	lung
5	chr3:8795200-8804600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:8795200-8809000	Weak transcription	Spleen	Spleen
7	chr3:8798000-8800800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:8798000-8803400	Enhancers	Fetal Muscle Leg	muscle
9	chr3:8798200-8800800	Enhancers	NH-A	brain
10	chr3:8798200-8802800	Enhancers	Fetal Muscle Trunk	muscle
11	chr3:8798200-8802800	Enhancers	HSMMtube	muscle
12	chr3:8798200-8808000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:8798400-8800600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:8798600-8801600	Enhancers	Psoas Muscle	Psoas
15	chr3:8799200-8800800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:8799200-8800800	Enhancers	NHDF-Ad	bronchial
17	chr3:8799400-8800400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:8799400-8800600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:8799400-8800800	Enhancers	Osteobl	bone
20	chr3:8799600-8800400	Enhancers	Brain Germinal Matrix	brain
21	chr3:8799600-8800600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:8799600-8800600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:8799600-8800600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:8799600-8800600	Enhancers	HMEC	breast
25	chr3:8799800-8800400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:8799800-8800800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:8799800-8802600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:8799800-8807000	Genic enhancers	HSMM	muscle
29	chr3:8800000-8801200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:8800000-8803000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:8800000-8803200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:8800000-8804600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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