Variant report

Variant	rs11487861
Chromosome Location	chr1:223004049-223004050
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222988355..222990367-chr1:223003630..223006609,2	MCF-7	breast:
2	chr1:222986729..222989819-chr1:223001002..223005734,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228106	Chromatin interaction
ENSG00000154309	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11487817	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11597	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163525	0.88[EUR][1000 genomes]
rs17476063	0.85[AFR][1000 genomes]
rs35271605	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35530937	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35980718	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4415571	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61838109	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839589	0.87[AFR][1000 genomes]
rs61839590	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839607	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839609	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839610	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61839658	0.88[EUR][1000 genomes]
rs61839659	0.88[EUR][1000 genomes]
rs61840262	0.88[EUR][1000 genomes]
rs61840269	0.88[EUR][1000 genomes]
rs61840288	0.84[EUR][1000 genomes]
rs61840295	0.84[EUR][1000 genomes]
rs9441849	0.88[EUR][1000 genomes]
rs9441937	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:222989400-223026800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:222990400-223027400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:222991200-223010200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:222991800-223017200	Weak transcription	Aorta	Aorta
5	chr1:222997000-223016600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:222998400-223006600	Weak transcription	Fetal Lung	lung
7	chr1:222999600-223015600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:223001800-223012000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:223001800-223012200	Weak transcription	Hela-S3	cervix
10	chr1:223002200-223017000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:223002600-223019800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:223003000-223004200	Weak transcription	Right Atrium	heart
13	chr1:223003400-223004200	Enhancers	Fetal Intestine Small	intestine
14	chr1:223003400-223006800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:223003600-223004200	Enhancers	Ovary	ovary
16	chr1:223003600-223013400	Weak transcription	Fetal Stomach	stomach
17	chr1:223003800-223005000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:223003800-223006400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:223003800-223006400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:223003800-223006800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:223003800-223006800	Weak transcription	NHDF-Ad	bronchial
22	chr1:223003800-223011800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:223004000-223005000	Weak transcription	Fetal Intestine Large	intestine
24	chr1:223004000-223006400	Weak transcription	Stomach Mucosa	stomach
25	chr1:223004000-223006800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:223004000-223007000	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:223004000-223011400	Weak transcription	Pancreas	Pancrea

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