Variant report

Variant	rs17466882
Chromosome Location	chr1:186149704-186149705
allele	A/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	TRIM28	chr1:186149524-186149998	K562	blood:	n/a	n/a
2	KAP1	chr1:186149466-186149977	K562	blood:	n/a	n/a
3	CBX3	chr1:186149566-186149873	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:186148276..186150071-chr1:186151136..186154406,3	MCF-7	breast:
2	chr1:186149621..186151252-chr1:186152993..186154563,2	K562	blood:
3	chr1:186144068..186146572-chr1:186148557..186150337,3	K562	blood:

Variant related genes	Relation type
ENSG00000224691	TF binding region
ENSG00000224691	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12120763	1.00[CHB][hapmap]
rs16825040	1.00[CHB][hapmap]
rs17532100	0.86[CEU][hapmap];0.92[AMR][1000 genomes]
rs74136057	0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1007237	chr1:186137724-186226502	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1009149	chr1:186147945-186206188	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17466882	TEDDM1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
2	chr1:186133600-186160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:186134600-186152200	Weak transcription	NH-A	brain
4	chr1:186136200-186152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:186136200-186153200	Weak transcription	Fetal Lung	lung
6	chr1:186136200-186157600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:186136800-186157000	Weak transcription	Aorta	Aorta
8	chr1:186137000-186152800	Weak transcription	Liver	Liver
9	chr1:186137200-186152000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:186145000-186158400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:186145400-186151200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:186148000-186149800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:186148000-186152200	Weak transcription	Hela-S3	cervix
14	chr1:186148000-186157000	Weak transcription	Left Ventricle	heart
15	chr1:186148400-186151400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:186148600-186151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:186148600-186151200	Weak transcription	NHEK	skin
18	chr1:186148600-186152400	Weak transcription	Esophagus	oesophagus
19	chr1:186148800-186151200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:186148800-186151200	Weak transcription	HMEC	breast
21	chr1:186148800-186151400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:186148800-186151600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:186148800-186152000	Weak transcription	HSMM	muscle
24	chr1:186149000-186151200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:186149200-186151400	Weak transcription	Osteobl	bone
26	chr1:186149400-186151800	Weak transcription	NHDF-Ad	bronchial

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