Variant report

Variant	rs7005585
Chromosome Location	chr8:126528862-126528863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126527485..126531426-chr8:126535005..126540640,6	MCF-7	breast:
2	chr8:126440957..126444438-chr8:126527732..126530160,4	MCF-7	breast:
3	chr8:126523824..126525644-chr8:126527668..126529840,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction
ENSG00000253111	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1551397	0.81[CHB][hapmap]
rs1551398	0.81[CHB][hapmap]
rs1551399	0.81[CHB][hapmap]
rs1551400	0.81[CHB][hapmap]
rs1809167	0.86[CEU][hapmap]
rs4380956	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4871611	0.81[CHB][hapmap]
rs7002027	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7005992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818434	0.93[CEU][hapmap];0.86[CHB][hapmap];0.90[GIH][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap]
rs921720	0.85[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs921721	0.90[CHB][hapmap];0.95[JPT][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7005585	TRMT12	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126517200-126529000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:126518000-126534400	Weak transcription	Right Atrium	heart
3	chr8:126518600-126529400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:126524600-126529400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:126524800-126529400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr8:126525200-126529000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:126525800-126538800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:126526000-126534200	Weak transcription	Ovary	ovary
9	chr8:126526000-126537400	Weak transcription	Fetal Lung	lung
10	chr8:126526200-126529000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:126526200-126534400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:126526400-126529200	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:126526800-126531800	Weak transcription	Spleen	Spleen
14	chr8:126527000-126530200	Weak transcription	Esophagus	oesophagus
15	chr8:126527000-126531800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:126527000-126531800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:126527000-126538200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:126527400-126534400	Weak transcription	Osteobl	bone
19	chr8:126527600-126529000	Weak transcription	HepG2	liver
20	chr8:126527600-126537000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:126528000-126537200	Weak transcription	Psoas Muscle	Psoas
22	chr8:126528200-126529400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:126528200-126529400	Enhancers	Adipose Nuclei	Adipose
24	chr8:126528200-126531600	Weak transcription	A549	lung
25	chr8:126528400-126529200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:126528600-126531600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:126528600-126537000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:126528600-126537000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:126528800-126529000	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:126528800-126529400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:126528800-126529400	Enhancers	Liver	Liver
32	chr8:126528800-126529400	Enhancers	Right Ventricle	heart
33	chr8:126528800-126531200	Weak transcription	HSMMtube	muscle

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