Variant report

Variant	rs11639208
Chromosome Location	chr15:59065624-59065625
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	MXI1	chr15:59062083-59065755	SK-N-SH	brain:	n/a	chr15:59063345-59063354 chr15:59063345-59063354 chr15:59063347-59063356

No.	Distal block	Cell Line	Cell type
1	chr15:59002723..59004883-chr15:59065189..59066915,2	K562	blood:
2	chr15:59064130..59065710-chr15:59066898..59069288,2	MCF-7	breast:
3	chr15:59063628..59066119-chr15:59070101..59071953,2	MCF-7	breast:
4	chr15:59040077..59045685-chr15:59061303..59067063,14	K562	blood:
5	chr15:59064062..59066974-chr15:59068078..59069600,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245975	TF binding region
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11631244	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11631334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11632492	0.90[AMR][1000 genomes]
rs11638416	1.00[CEU][hapmap]
rs16940571	1.00[CEU][hapmap]
rs16940810	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17190720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555787	0.81[AMR][1000 genomes]
rs2657126	0.81[AMR][1000 genomes]
rs347118	0.81[AMR][1000 genomes]
rs347119	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs347121	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs347122	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs384322	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs387005	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs390390	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs415403	0.81[AMR][1000 genomes]
rs424346	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs437549	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs602921	1.00[CEU][hapmap]
rs625510	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6494025	1.00[CEU][hapmap]
rs664783	0.83[EUR][1000 genomes]
rs793417	1.00[CEU][hapmap];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59062200-59066000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:59062200-59066000	Active TSS	NHLF	lung
3	chr15:59062200-59066200	Active TSS	HSMMtube	muscle
4	chr15:59062200-59067800	Active TSS	GM12878-XiMat	blood
5	chr15:59062400-59065800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr15:59062400-59065800	Active TSS	Psoas Muscle	Psoas
7	chr15:59062400-59066000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:59062400-59066200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:59062400-59066400	Active TSS	Right Ventricle	heart
10	chr15:59062400-59066600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr15:59062400-59067400	Active TSS	Right Atrium	heart
12	chr15:59062400-59067800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:59062600-59065800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr15:59062600-59065800	Active TSS	Aorta	Aorta
15	chr15:59062600-59065800	Active TSS	Left Ventricle	heart
16	chr15:59062600-59066000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:59062600-59066400	Active TSS	Ovary	ovary
18	chr15:59062800-59065800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:59062800-59066800	Active TSS	NHDF-Ad	bronchial
20	chr15:59062800-59067000	Active TSS	Stomach Smooth Muscle	stomach
21	chr15:59063000-59066000	Active TSS	Fetal Stomach	stomach
22	chr15:59063000-59066000	Active TSS	Thymus	Thymus
23	chr15:59063000-59066200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:59063000-59067400	Active TSS	NHEK	skin
25	chr15:59063200-59065800	Active TSS	Placenta	Placenta
26	chr15:59063200-59065800	Active TSS	Placenta Amnion	Placenta Amnion
27	chr15:59063800-59066200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:59064000-59066200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:59064200-59065800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr15:59064200-59065800	Flanking Active TSS	HUVEC	blood vessel
31	chr15:59064200-59065800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr15:59064200-59066000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:59064200-59066000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr15:59064200-59066000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr15:59064200-59066200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr15:59064200-59066200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:59064200-59066200	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr15:59064200-59066200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr15:59064200-59066400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr15:59064400-59065800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:59064400-59066000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:59064400-59066000	Flanking Active TSS	Dnd41	blood
43	chr15:59064400-59066200	Flanking Active TSS	Fetal Lung	lung
44	chr15:59064600-59066000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:59064600-59067200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr15:59064600-59069000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:59064600-59081000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:59064600-59085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:59064600-59102800	Weak transcription	Lung	lung
50	chr15:59064600-59102800	Weak transcription	Pancreas	Pancrea

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