Variant report

Variant	rs6983599
Chromosome Location	chr8:127836035-127836036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:127834592..127842945-chr8:128745185..128752445,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249375	Chromatin interaction
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10089880	0.81[EUR][1000 genomes]
rs10102846	0.91[EUR][1000 genomes]
rs10103070	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956327	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956329	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257258	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873186	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046790	0.91[EUR][1000 genomes]
rs2046791	0.91[EUR][1000 genomes]
rs6470474	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830965	0.86[AMR][1000 genomes]
rs7844928	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv891438	chr8:127670339-127845702	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:127827000-127837200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:127832000-127836600	Enhancers	Osteobl	bone
3	chr8:127832600-127836600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:127832600-127836600	Weak transcription	Fetal Lung	lung
5	chr8:127833000-127836200	Weak transcription	NHDF-Ad	bronchial
6	chr8:127833200-127837000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:127833400-127836400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:127833400-127836400	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:127833600-127836200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:127833600-127836400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:127833600-127836800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:127833600-127839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:127833800-127836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:127833800-127837000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:127833800-127837000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:127834000-127836800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:127834200-127836400	Weak transcription	Fetal Heart	heart
18	chr8:127834200-127836800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:127834400-127836200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:127834400-127836400	Weak transcription	NH-A	brain
21	chr8:127834400-127836400	Weak transcription	NHEK	skin
22	chr8:127835800-127836400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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