Variant report

Variant	rs17263416
Chromosome Location	chr20:13848378-13848379
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	chr20:13846479..13848904-chr20:13850428..13852798,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101251	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11698034	0.94[EUR][1000 genomes]
rs11699869	1.00[CEU][hapmap]
rs243913	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55722769	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042392	0.87[ASN][1000 genomes]
rs6131532	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs6131537	0.85[JPT][hapmap]
rs6134992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6135000	1.00[JPT][hapmap]
rs6135005	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs73085418	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr20:13843600-13850800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr20:13843800-13848600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr20:13843800-13850000	Enhancers	NHDF-Ad	bronchial
4	chr20:13844200-13851800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr20:13845600-13849800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr20:13845600-13850600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:13845800-13848600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr20:13846600-13854600	Weak transcription	Right Atrium	heart
9	chr20:13847000-13853400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr20:13847000-13854200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr20:13847200-13848400	Weak transcription	Aorta	Aorta
12	chr20:13847200-13848400	Weak transcription	NH-A	brain
13	chr20:13847200-13848400	Weak transcription	NHLF	lung
14	chr20:13847200-13849000	Weak transcription	Ovary	ovary
15	chr20:13847200-13851200	Weak transcription	Psoas Muscle	Psoas
16	chr20:13847200-13854600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr20:13847200-13855200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:13847200-13855400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr20:13847400-13848400	Weak transcription	Adipose Nuclei	Adipose
20	chr20:13847400-13849800	Weak transcription	Brain Anterior Caudate	brain
21	chr20:13847400-13849800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr20:13847400-13850000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr20:13848000-13848400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr20:13848000-13848600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr20:13848000-13854600	Weak transcription	Fetal Stomach	stomach
26	chr20:13848200-13848400	Enhancers	Colon Smooth Muscle	Colon
27	chr20:13848200-13851800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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