Variant report

Variant	rs12907119
Chromosome Location	chr15:78040025-78040026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78037605..78040369-chr15:78045889..78047817,2	MCF-7	breast:
2	chr15:78034743..78037727-chr15:78038186..78041531,4	K562	blood:
3	chr15:78039556..78042296-chr15:78046861..78049587,2	K562	blood:
4	chr15:78029860..78033858-chr15:78038839..78041859,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10152354	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12593505	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12905542	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12905876	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28676760	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708729	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34393364	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35292095	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35840713	0.92[EUR][1000 genomes]
rs35939880	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35977825	0.92[EUR][1000 genomes]
rs3935769	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072929	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275819	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4570803	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4617826	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55784436	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67185399	0.82[ASN][1000 genomes]
rs67631690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68188240	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162414	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7162468	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8024882	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8028987	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8029188	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8029954	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8030564	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8030681	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8031251	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][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	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS 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	29 gene(s)	inside rSNPs	diseases
3	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv833061	chr15:77998374-78121905	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv904420	chr15:78025267-78078903	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv833062	chr15:78035206-78220358	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78032600-78042200	Weak transcription	Fetal Brain Female	brain
2	chr15:78036800-78045800	Weak transcription	Right Atrium	heart
3	chr15:78037800-78041200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:78038800-78040800	Enhancers	K562	blood
5	chr15:78039000-78040600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:78039200-78040800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr15:78039200-78040800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr15:78039200-78040800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:78039200-78042200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:78039400-78040200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:78039400-78040200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:78039400-78040800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr15:78039400-78040800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr15:78039400-78040800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:78039400-78041800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr15:78039600-78040200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:78039600-78040200	Bivalent Enhancer	Fetal Stomach	stomach
18	chr15:78039600-78040400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr15:78039600-78040400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr15:78039600-78040400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:78039600-78040800	Enhancers	Spleen	Spleen
22	chr15:78039600-78041000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr15:78039600-78041200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr15:78039800-78040200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:78039800-78040400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:78039800-78040400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr15:78039800-78040400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr15:78039800-78040400	Enhancers	Lung	lung
29	chr15:78039800-78040400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
30	chr15:78039800-78040400	Bivalent/Poised TSS	Hela-S3	cervix
31	chr15:78039800-78040600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:78039800-78040600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:78039800-78042000	Enhancers	Esophagus	oesophagus
34	chr15:78040000-78040200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:78040000-78040200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:78040000-78040200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr15:78040000-78040400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:78040000-78040400	Enhancers	Brain Anterior Caudate	brain
39	chr15:78040000-78040400	Enhancers	Pancreas	Pancrea
40	chr15:78040000-78040600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:78040000-78040600	Enhancers	Liver	Liver
42	chr15:78040000-78040600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
43	chr15:78040000-78040600	Flanking Active TSS	HepG2	liver

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