Variant report

Variant	rs1269265
Chromosome Location	chr13:50913908-50913909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50910484..50912390-chr13:50913694..50915729,2	MCF-7	breast:
2	chr13:50902731..50904245-chr13:50913410..50915488,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1149864	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs1149869	0.94[ASN][1000 genomes]
rs12428570	0.87[AMR][1000 genomes]
rs12430306	0.87[AMR][1000 genomes]
rs1269275	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs17074146	0.95[ASN][1000 genomes]
rs1924374	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2240810	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2532968	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs806305	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs806309	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs806348	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs806354	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs806356	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs806359	0.84[ASN][1000 genomes]
rs811714	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535442	0.96[ASN][1000 genomes]
rs9535444	0.96[ASN][1000 genomes]
rs9562961	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9562969	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9568394	0.89[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs9568395	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568396	0.90[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 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	chr13:50909200-50918600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr13:50909400-50914200	Weak transcription	Fetal Heart	heart
3	chr13:50909400-50915200	Weak transcription	Fetal Kidney	kidney
4	chr13:50909800-50914000	Weak transcription	Pancreas	Pancrea
5	chr13:50909800-50914400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:50909800-50915200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:50911400-50915400	Weak transcription	Aorta	Aorta
8	chr13:50912600-50914200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr13:50912600-50916000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:50912800-50914200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr13:50912800-50914600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:50912800-50915000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr13:50912800-50915000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:50913000-50914000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr13:50913000-50914000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:50913000-50914800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:50913000-50916400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:50913000-50921000	Weak transcription	HepG2	liver
19	chr13:50913200-50914400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr13:50913400-50915000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:50913600-50914600	Enhancers	Fetal Thymus	thymus
22	chr13:50913600-50914800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr13:50913600-50915800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr13:50913800-50914000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr13:50913800-50914400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:50913800-50914400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:50913800-50916000	Enhancers	Fetal Muscle Leg	muscle

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