Variant report

Variant	rs7448288
Chromosome Location	chr5:118128017-118128018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118122820..118124504-chr5:118126340..118128643,2	K562	blood:
2	chr5:118034173..118035130-chr5:118126969..118128409,6	MCF-7	breast:
3	chr16:14311721..14312241-chr5:118127410..118128139,2	MCF-7	breast:
4	chr5:118126334..118128715-chr5:118291929..118293772,2	MCF-7	breast:
5	chr5:117946766..117947670-chr5:118127610..118128249,2	MCF-7	breast:
6	chr5:117947053..117948753-chr5:118127871..118130563,2	MCF-7	breast:
7	chr5:117953386..117954146-chr5:118127518..118128022,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1019453	1.00[EUR][1000 genomes]
rs1473337	1.00[CEU][hapmap]
rs17144589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17144634	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs57587366	0.86[AFR][1000 genomes]
rs59610600	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59722126	1.00[EUR][1000 genomes]
rs61214571	1.00[EUR][1000 genomes]
rs6866382	1.00[EUR][1000 genomes]
rs6886099	1.00[EUR][1000 genomes]
rs73236957	1.00[EUR][1000 genomes]
rs73239078	1.00[EUR][1000 genomes]
rs73251303	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251311	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251312	0.80[AFR][1000 genomes]
rs73251313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251327	0.85[AFR][1000 genomes]
rs73251382	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73251385	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73251386	0.85[AFR][1000 genomes]
rs73251389	0.85[AFR][1000 genomes]
rs73253507	1.00[EUR][1000 genomes]
rs7722494	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7734451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv882768	chr5:118088385-118133786	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv882770	chr5:118089798-118133786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118126600-118128200	Enhancers	Brain Substantia Nigra	brain
2	chr5:118126600-118128600	Enhancers	Ovary	ovary
3	chr5:118126600-118131200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:118126800-118128400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:118126800-118129600	Enhancers	Fetal Stomach	stomach
6	chr5:118127000-118128200	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:118127000-118128400	Enhancers	Brain Angular Gyrus	brain
8	chr5:118127000-118129600	Enhancers	Fetal Muscle Leg	muscle
9	chr5:118127000-118130200	Enhancers	Liver	Liver
10	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:118127200-118128200	Enhancers	Fetal Intestine Small	intestine
12	chr5:118127400-118131200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:118127600-118128200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:118127600-118128400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:118127600-118129400	Weak transcription	Brain Germinal Matrix	brain
16	chr5:118127600-118143200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:118127800-118128600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:118127800-118129000	Enhancers	Colon Smooth Muscle	Colon
19	chr5:118127800-118129200	Weak transcription	Fetal Heart	heart
20	chr5:118127800-118129400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:118127800-118129800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr5:118127800-118130000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:118127800-118130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:118127800-118131200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:118127800-118131200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:118127800-118131400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:118127800-118131400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:118127800-118131800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:118127800-118143400	Weak transcription	Psoas Muscle	Psoas
30	chr5:118128000-118128400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:118128000-118128400	Enhancers	Fetal Lung	lung
32	chr5:118128000-118128800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:118128000-118129000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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