Variant report

Variant	rs10505491
Chromosome Location	chr8:127845389-127845390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:127844604..127847451-chr8:127850237..127852011,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16901731	0.85[MKK][hapmap]
rs16901753	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901755	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826083	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62529847	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62529848	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62529850	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993575	0.85[AFR][1000 genomes]
rs73330306	1.00[ASN][1000 genomes]
rs7827311	0.89[CEU][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	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127837800-127845600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:127837800-127845800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:127837800-127845800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:127838000-127845400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:127838000-127845400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:127838200-127845400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:127840400-127845800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:127840600-127845800	Weak transcription	Fetal Kidney	kidney
9	chr8:127840800-127845400	Weak transcription	Fetal Lung	lung
10	chr8:127840800-127845600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:127840800-127845600	Weak transcription	Left Ventricle	heart
12	chr8:127840800-127845800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:127840800-127845800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:127840800-127845800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:127840800-127845800	Enhancers	HSMM	muscle
16	chr8:127841000-127845400	Weak transcription	Placenta	Placenta
17	chr8:127841000-127845400	Weak transcription	Fetal Stomach	stomach
18	chr8:127841000-127845400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:127841000-127845600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:127841000-127845600	Weak transcription	Fetal Thymus	thymus
21	chr8:127841000-127845800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:127841000-127845800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:127842000-127845400	Weak transcription	Osteobl	bone
24	chr8:127842400-127847000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:127843800-127845800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:127844000-127845600	Weak transcription	HMEC	breast
27	chr8:127844000-127845800	Weak transcription	NHEK	skin
28	chr8:127844200-127845600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:127844400-127847800	Enhancers	Fetal Muscle Leg	muscle
30	chr8:127844400-127848000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:127844600-127845600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:127844600-127845800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:127844800-127847200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:127845000-127845600	Enhancers	NH-A	brain
35	chr8:127845000-127845600	Enhancers	NHDF-Ad	bronchial
36	chr8:127845000-127845800	Enhancers	HUVEC	blood vessel
37	chr8:127845000-127845800	Enhancers	NHLF	lung
38	chr8:127845000-127846000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:127845000-127846200	Enhancers	Spleen	Spleen
40	chr8:127845000-127846600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:127845000-127846800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:127845000-127846800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:127845000-127846800	Enhancers	Psoas Muscle	Psoas
44	chr8:127845000-127847000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:127845000-127847200	Enhancers	Fetal Muscle Trunk	muscle
46	chr8:127845200-127845600	Flanking Active TSS	HSMMtube	muscle
47	chr8:127845200-127846800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:127845200-127846800	Enhancers	Fetal Heart	heart

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