Variant report

Variant	rs17406109
Chromosome Location	chr8:126483140-126483141
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	chr8:126481379..126484101-chr8:126487149..126489863,2	MCF-7	breast:
2	chr8:126442656..126444705-chr8:126481223..126483449,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10956249	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12544593	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12674939	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12677676	0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap];0.88[ASN][1000 genomes]
rs12678799	0.83[EUR][1000 genomes]
rs12679184	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12679189	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12679547	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13258507	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13265432	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17320616	0.82[CEU][hapmap]
rs2003370	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs2003371	0.81[EUR][1000 genomes]
rs34087092	0.85[ASN][1000 genomes]
rs34321324	0.80[EUR][1000 genomes]
rs34417638	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34604874	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34843049	0.80[EUR][1000 genomes]
rs35309034	0.92[ASN][1000 genomes]
rs4567057	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4567059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4592055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870941	0.82[ASN][1000 genomes]
rs55921265	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470355	0.84[CEU][hapmap]
rs68089270	0.83[EUR][1000 genomes]
rs6983834	0.83[EUR][1000 genomes]
rs7015677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71516786	0.82[EUR][1000 genomes]
rs7828194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828701	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8180991	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126477400-126485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:126479400-126483400	Enhancers	Fetal Kidney	kidney
3	chr8:126479400-126487400	Weak transcription	Liver	Liver
4	chr8:126479400-126489200	Weak transcription	Pancreas	Pancrea
5	chr8:126479600-126483200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:126480400-126483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:126480600-126483200	Enhancers	Fetal Muscle Leg	muscle
8	chr8:126481200-126483200	Enhancers	Adipose Nuclei	Adipose
9	chr8:126481200-126483200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr8:126481400-126483200	Enhancers	Left Ventricle	heart
11	chr8:126481400-126483200	Enhancers	Psoas Muscle	Psoas
12	chr8:126481400-126483400	Enhancers	Fetal Lung	lung
13	chr8:126481800-126484000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:126482000-126484200	Weak transcription	K562	blood
15	chr8:126482400-126483200	Enhancers	Fetal Heart	heart
16	chr8:126482400-126483200	Enhancers	Fetal Stomach	stomach
17	chr8:126482400-126483200	Enhancers	HSMMtube	muscle
18	chr8:126482400-126483200	Enhancers	HUVEC	blood vessel
19	chr8:126482400-126483400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:126482600-126483200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:126482600-126483200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:126482600-126483200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:126482600-126483200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:126482600-126483200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:126482600-126483200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:126482600-126483200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:126482600-126483400	Enhancers	Hela-S3	cervix
28	chr8:126482600-126483400	Enhancers	NH-A	brain
29	chr8:126482600-126483800	Enhancers	A549	lung
30	chr8:126482600-126484400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:126482800-126483200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:126482800-126483200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:126482800-126483200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:126482800-126483200	Enhancers	NHLF	lung
35	chr8:126482800-126487000	Weak transcription	Placenta	Placenta
36	chr8:126483000-126483200	Enhancers	Primary hematopoietic stem cells	blood
37	chr8:126483000-126483200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:126483000-126483400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:126483000-126484200	Enhancers	HMEC	breast
40	chr8:126483000-126484200	Enhancers	NHEK	skin
41	chr8:126483000-126484600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:126483000-126486000	Weak transcription	Lung	lung
43	chr8:126483000-126487400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:126483000-126489400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:126483000-126498200	Weak transcription	Right Atrium	heart

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