Variant report

Variant	rs12117883
Chromosome Location	chr1:166139958-166139959
allele	C/G
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	EBF1	chr1:166139090-166140106	GM12878	blood:	n/a	n/a
2	RELA	chr1:166138487-166139993	GM12878	blood:	n/a	n/a
3	WRNIP1	chr1:166139952-166140257	GM12878	blood:	n/a	n/a
4	MAZ	chr1:166139195-166139971	GM12878	blood:	n/a	n/a
5	SP1	chr1:166139814-166140556	HCT-116	colon:	n/a	n/a
6	STAT3	chr1:166139219-166140133	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166127346..166129390-chr1:166139728..166141681,2	K562	blood:
2	chr1:166139617..166141125-chr1:166142092..166144780,2	K562	blood:

Variant related genes	Relation type
FAM78B	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10918329	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12126452	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12132567	1.00[AFR][1000 genomes]
rs72703957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166136800-166145200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:166137000-166140400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:166137000-166142600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:166137000-166142800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:166137000-166143600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:166137000-166144000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:166137200-166140000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:166137200-166140000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:166137200-166140000	Weak transcription	HMEC	breast
10	chr1:166137200-166140400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:166137400-166140000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:166137400-166141000	Weak transcription	Pancreas	Pancrea
13	chr1:166137400-166141000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:166137600-166141800	Enhancers	GM12878-XiMat	blood
15	chr1:166138200-166140200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:166138400-166140000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:166139000-166140200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:166139200-166140400	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:166139200-166141200	Enhancers	Brain Hippocampus Middle	brain
20	chr1:166139400-166140600	Enhancers	Brain Substantia Nigra	brain
21	chr1:166139600-166142400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:166139600-166142400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:166139600-166142600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:166139600-166142800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:166139800-166140000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:166139800-166140800	Enhancers	Brain Anterior Caudate	brain
27	chr1:166139800-166142400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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