Variant report

Variant	rs17614588
Chromosome Location	chr5:89928991-89928992
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	chr5:89908014..89909686-chr5:89928163..89930208,2	K562	blood:
2	chr5:89926445..89929154-chr5:89932545..89937014,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164199	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10056775	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10514330	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11738461	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11738532	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11739825	0.80[EUR][1000 genomes]
rs11739958	0.85[EUR][1000 genomes]
rs11742844	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11745908	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11748911	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11749693	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13157270	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13159048	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13164404	0.96[EUR][1000 genomes]
rs13167847	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13171056	0.85[EUR][1000 genomes]
rs13171303	0.82[EUR][1000 genomes]
rs13174505	0.83[EUR][1000 genomes]
rs13182944	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13183331	0.85[EUR][1000 genomes]
rs13186124	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13189520	0.81[CEU][hapmap]
rs13190272	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1508788	0.81[CEU][hapmap]
rs16868809	0.86[AFR][1000 genomes]
rs16868935	1.00[YRI][hapmap]
rs17541517	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17541704	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17541912	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17542086	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17542921	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17543150	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17552645	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17621038	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17621160	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17621985	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17622555	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs28399862	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28429067	0.86[AFR][1000 genomes]
rs34301936	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34490215	0.89[EUR][1000 genomes]
rs34719862	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34774423	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35312877	0.85[EUR][1000 genomes]
rs35667071	0.96[EUR][1000 genomes]
rs35680172	0.85[EUR][1000 genomes]
rs35980777	0.84[EUR][1000 genomes]
rs36045161	0.85[EUR][1000 genomes]
rs6452887	1.00[CEU][hapmap]
rs66683260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67956713	0.83[EUR][1000 genomes]
rs6866075	0.80[EUR][1000 genomes]
rs6877613	1.00[CEU][hapmap]
rs71637308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	50 gene(s)	inside rSNPs	diseases
2	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv933668	chr5:89854253-89999672	Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv531965	chr5:89886550-90145002	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89918000-89950600	Weak transcription	Pancreas	Pancrea
2	chr5:89919600-89936400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:89925200-89936400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:89925400-89936200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:89925400-89938600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:89925600-89931200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:89926400-89929200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:89927000-89929000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:89927000-89929000	Enhancers	K562	blood
10	chr5:89927000-89930400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:89927600-89931000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:89927600-89931200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:89927800-89929000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:89928000-89929000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:89928000-89929000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:89928400-89929000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr5:89928400-89929200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:89928600-89929000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:89928600-89929000	Enhancers	Brain Germinal Matrix	brain
20	chr5:89928800-89929000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:89928800-89929000	Enhancers	Brain Anterior Caudate	brain
22	chr5:89928800-89929000	Enhancers	Fetal Brain Female	brain
23	chr5:89928800-89930200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:89928800-89940000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:89928800-89941000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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