Variant report

Variant	rs11985656
Chromosome Location	chr8:125283389-125283390
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr8:125283298-125284752	SK-N-SH	brain:	n/a	chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
2	FOSL1	chr8:125283378-125284832	HCT-116	colon:	n/a	chr8:125283895-125283905 chr8:125283894-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
3	GTF2F1	chr8:125283387-125284727	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:125283333-125284783	Hela-S3	cervix:	n/a	n/a
5	MAX	chr8:125283061-125284624	A549	lung:	n/a	chr8:125283297-125283308 chr8:125283296-125283311 chr8:125283896-125283905
6	GATA3	chr8:125283373-125285297	A549	lung:	n/a	n/a
7	SP1	chr8:125283387-125284862	HCT-116	colon:	n/a	chr8:125284351-125284365 chr8:125284805-125284812 chr8:125284355-125284364 chr8:125284354-125284366
8	EP300	chr8:125283295-125284932	A549	lung:	n/a	chr8:125284179-125284188
9	SP1	chr8:125283130-125284899	A549	lung:	n/a	chr8:125284351-125284365 chr8:125284805-125284812 chr8:125284355-125284364 chr8:125284354-125284366
10	TCF12	chr8:125281667-125285056	A549	lung:	n/a	n/a
11	MAX	chr8:125283222-125284660	Hela-S3	cervix:	n/a	chr8:125283297-125283308 chr8:125283296-125283311 chr8:125283896-125283905
12	POLR2A	chr8:125283199-125285642	IMR90	lung:	n/a	n/a
13	FOSL2	chr8:125283230-125285044	A549	lung:	n/a	chr8:125283814-125283825 chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
14	EP300	chr8:125283300-125284900	A549	lung:	n/a	chr8:125284179-125284188
15	SMARCC1	chr8:125282669-125285078	Hela-S3	cervix:	n/a	n/a
16	SP1	chr8:125283324-125284928	A549	lung:	n/a	chr8:125284351-125284365 chr8:125284805-125284812 chr8:125284355-125284364 chr8:125284354-125284366
17	FOS	chr8:125283384-125284870	MCF10A-Er-Src	breast:	n/a	chr8:125283894-125283905 chr8:125283815-125283826 chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
18	REST	chr8:125283243-125285045	A549	lung:	n/a	chr8:125284626-125284634
19	MAX	chr8:125282817-125285260	A549	lung:	n/a	chr8:125283297-125283308 chr8:125283296-125283311 chr8:125283896-125283905
20	MAX	chr8:125283165-125284780	A549	lung:	n/a	chr8:125283297-125283308 chr8:125283296-125283311 chr8:125283896-125283905
21	FOS	chr8:125283238-125284715	MCF10A-Er-Src	breast:	n/a	chr8:125283894-125283905 chr8:125283815-125283826 chr8:125283895-125283905 chr8:125283895-125283905 chr8:125283816-125283826 chr8:125283894-125283906 chr8:125283896-125283904 chr8:125283816-125283826
22	SIX5	chr8:125283207-125285122	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125274766..125276637-chr8:125281262..125283690,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12674575	0.86[MEX][hapmap]
rs13282297	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4870895	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6470236	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6997326	0.86[MEX][hapmap]
rs7016827	0.94[CEU][hapmap];0.91[CHB][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9297692	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[EUR][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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11985656	TRMT12	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125274800-125287400	Weak transcription	Fetal Brain Male	brain
2	chr8:125279400-125284000	Weak transcription	Right Ventricle	heart
3	chr8:125280400-125284000	Weak transcription	Pancreas	Pancrea
4	chr8:125280400-125284000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:125281000-125283600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:125281200-125284400	Enhancers	Fetal Intestine Large	intestine
7	chr8:125281200-125284600	Enhancers	Psoas Muscle	Psoas
8	chr8:125281600-125283600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr8:125281600-125284000	Enhancers	K562	blood
10	chr8:125281600-125284200	Weak transcription	Right Atrium	heart
11	chr8:125281600-125285000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr8:125281800-125283800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:125282000-125284000	Weak transcription	Fetal Heart	heart
14	chr8:125282000-125284200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:125282200-125283600	Flanking Active TSS	A549	lung
16	chr8:125282200-125283600	Enhancers	Osteobl	bone
17	chr8:125282200-125284000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:125282200-125284400	Enhancers	Fetal Intestine Small	intestine
19	chr8:125282200-125285600	Enhancers	NHDF-Ad	bronchial
20	chr8:125282400-125284000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:125282400-125284600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:125282600-125283400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:125282600-125284600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:125282800-125283400	Active TSS	Stomach Smooth Muscle	stomach
25	chr8:125282800-125283400	Enhancers	NH-A	brain
26	chr8:125282800-125284400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:125282800-125284400	Enhancers	Left Ventricle	heart
28	chr8:125282800-125284400	Enhancers	HSMMtube	muscle
29	chr8:125282800-125284800	Enhancers	HUVEC	blood vessel
30	chr8:125282800-125285400	Flanking Active TSS	Hela-S3	cervix
31	chr8:125282800-125285400	Enhancers	NHLF	lung
32	chr8:125282800-125285600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:125283000-125283400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:125283200-125283600	Enhancers	Rectal Smooth Muscle	rectum
35	chr8:125283200-125284000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:125283200-125284400	Enhancers	Colon Smooth Muscle	Colon
37	chr8:125283200-125285000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:125283200-125285600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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