Variant report

Variant	rs17554631
Chromosome Location	chr5:90079820-90079821
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90079294..90080237-chr5:90089325..90090028,2	MCF-7	breast:
2	chr5:89984568..89985530-chr5:90079262..90080117,5	MCF-7	breast:
3	chr5:90076080..90078168-chr5:90078255..90079935,2	K562	blood:
4	chr5:89952329..89954940-chr5:90078278..90080126,2	K562	blood:
5	chr5:90004946..90006140-chr5:90079283..90080191,6	MCF-7	breast:
6	chr5:90077865..90080476-chr5:90084014..90086656,2	K562	blood:
7	chr5:90004824..90005819-chr5:90079374..90080191,7	MCF-7	breast:
8	chr5:90076080..90077925-chr5:90078435..90080138,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164199	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10071548	1.00[ASN][1000 genomes]
rs10942608	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744148	1.00[ASN][1000 genomes]
rs12109698	1.00[LWK][hapmap]
rs17624740	1.00[ASW][hapmap];1.00[ASN][1000 genomes]
rs2443086	0.89[CEU][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41308293	1.00[ASN][1000 genomes]
rs57218688	1.00[ASN][1000 genomes]
rs62375135	1.00[ASN][1000 genomes]
rs62375138	1.00[ASN][1000 genomes]
rs6875416	1.00[ASN][1000 genomes]
rs72784606	1.00[ASN][1000 genomes]
rs73185169	1.00[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	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	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
5	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv934323	chr5:89968158-90111853	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1031718	chr5:89999033-90099868	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90039800-90082000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:90043600-90086800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:90048400-90089200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:90051800-90105000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:90061200-90090800	Weak transcription	Brain Anterior Caudate	brain
6	chr5:90065000-90087000	Weak transcription	Fetal Brain Female	brain
7	chr5:90066200-90087000	Weak transcription	Brain Germinal Matrix	brain
8	chr5:90066200-90089800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:90066400-90083800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:90069400-90089400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:90070600-90080800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:90071400-90082200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:90073800-90081000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:90074800-90080200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:90074800-90086800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:90075600-90084600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:90075800-90086200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:90076200-90086600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:90076800-90080400	Strong transcription	K562	blood
20	chr5:90078400-90089800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:90079200-90080200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:90079200-90080600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:90079600-90089400	Weak transcription	Fetal Brain Male	brain
24	chr5:90079800-90080600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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