Variant report

Variant	rs13054983
Chromosome Location	chr22:34266717-34266718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34264153..34267717-chr22:34273021..34274940,3	MCF-7	breast:
2	chr22:34265653..34267240-chr22:34270322..34272194,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1009385	0.86[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs16993180	0.84[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267308	0.84[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3827344	0.84[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs67503539	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67714362	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs68063018	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13054983	SELM	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34251000-34269200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:34251200-34268000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:34252400-34267600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr22:34254400-34268000	Weak transcription	Spleen	Spleen
5	chr22:34254600-34269200	Weak transcription	Fetal Stomach	stomach
6	chr22:34256200-34269600	Enhancers	Fetal Heart	heart
7	chr22:34256400-34267000	Enhancers	Left Ventricle	heart
8	chr22:34257200-34269200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:34257200-34269600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:34257600-34269600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:34260200-34269000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr22:34260400-34266800	Enhancers	Psoas Muscle	Psoas
13	chr22:34261000-34268000	Weak transcription	Pancreas	Pancrea
14	chr22:34261200-34268200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:34261200-34269400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:34261600-34266800	Weak transcription	GM12878-XiMat	blood
17	chr22:34261800-34270400	Weak transcription	Liver	Liver
18	chr22:34262200-34267000	Enhancers	Right Atrium	heart
19	chr22:34262200-34269200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr22:34262400-34267000	Enhancers	Right Ventricle	heart
21	chr22:34263600-34268000	Weak transcription	Lung	lung
22	chr22:34263600-34269200	Weak transcription	Small Intestine	intestine
23	chr22:34263800-34269800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:34264000-34268000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:34264000-34269000	Weak transcription	Adipose Nuclei	Adipose
26	chr22:34264000-34271200	Weak transcription	HSMM	muscle
27	chr22:34264200-34268000	Weak transcription	Stomach Mucosa	stomach
28	chr22:34264200-34269000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:34264200-34269000	Weak transcription	Colonic Mucosa	Colon
30	chr22:34264400-34267600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr22:34264400-34268200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr22:34264600-34269200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:34264600-34269200	Weak transcription	Fetal Brain Male	brain
34	chr22:34264600-34269400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr22:34264800-34268000	Weak transcription	Gastric	stomach
36	chr22:34264800-34279400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:34265000-34267600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:34265000-34269000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr22:34265400-34267600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr22:34265400-34269000	Weak transcription	Fetal Brain Female	brain
41	chr22:34265600-34271400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr22:34265800-34268000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr22:34265800-34269400	Weak transcription	Aorta	Aorta
44	chr22:34265800-34269600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr22:34266000-34267400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr22:34266000-34269200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr22:34266200-34268000	Weak transcription	Ovary	ovary
48	chr22:34266200-34269200	Weak transcription	Brain Angular Gyrus	brain
49	chr22:34266400-34267400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr22:34266400-34267400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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