Variant report

Variant	rs17051438
Chromosome Location	chr9:71199235-71199236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71199104..71200136-chr9:71459624..71460607,5	MCF-7	breast:
2	chr9:71199034..71199992-chr9:71614240..71615302,11	MCF-7	breast:
3	chr9:71199122..71199964-chr9:71614246..71615122,3	K562	blood:
4	chr9:71199101..71200031-chr9:71292976..71293754,4	MCF-7	breast:
5	chr9:71198876..71200125-chr9:71300333..71301861,19	MCF-7	breast:
6	chr9:71199061..71199763-chr9:71459847..71460712,3	MCF-7	breast:
7	chr9:71199108..71199619-chr9:71642191..71643182,2	K562	blood:
8	chr9:71199122..71199719-chr9:71614348..71615097,4	MCF-7	breast:
9	chr9:71199033..71199728-chr9:71318176..71318881,4	MCF-7	breast:
10	chr9:71199142..71200264-chr9:71459602..71460948,4	K562	blood:
11	chr9:71199112..71200053-chr9:71300525..71301257,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf71-3	chr9:71199042-71200149	l_3782_chr9:71199041-71203573_breast

No data

No data

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17054572	0.90[ASN][1000 genomes]
rs56019779	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58919605	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716033	1.00[ASN][1000 genomes]
rs72716063	0.90[ASN][1000 genomes]
rs7851511	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893411	chr9:71130848-71199545	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv893412	chr9:71130848-71199545	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1024967	chr9:71130848-71210031	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv482506	chr9:71130848-71280888	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv466392	chr9:71130848-71318817	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv614546	chr9:71130848-71318817	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv893414	chr9:71139378-71320732	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats 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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71198800-71199600	Active TSS	Stomach Smooth Muscle	stomach
2	chr9:71198800-71199800	Active TSS	Fetal Lung	lung
3	chr9:71199000-71199400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:71199000-71199400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:71199000-71199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:71199000-71199400	Enhancers	Colon Smooth Muscle	Colon
7	chr9:71199000-71199400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr9:71199000-71199400	Enhancers	Fetal Muscle Leg	muscle
9	chr9:71199000-71199800	Active TSS	Fetal Kidney	kidney
10	chr9:71199000-71200200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:71199200-71199600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr9:71199200-71199600	Enhancers	Brain Hippocampus Middle	brain
13	chr9:71199200-71200400	Enhancers	Primary B cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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