Variant report

Variant	rs4916824
Chromosome Location	chr5:90184158-90184159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90183752..90186174-chr5:90676365..90680151,3	MCF-7	breast:
2	chr5:90181377..90185761-chr5:90673383..90677784,5	K562	blood:
3	chr5:90184114..90185772-chr5:90277640..90279396,2	K562	blood:
4	chr5:90180905..90184179-chr5:90184592..90187757,3	K562	blood:
5	chr5:90183905..90185761-chr5:90676284..90678383,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10942614	0.85[CEU][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10942615	0.88[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10942616	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10942617	0.85[CEU][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11948100	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11956677	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1818350	0.85[CEU][hapmap]
rs4362971	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4382198	0.87[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4916692	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4916825	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4916830	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58258039	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58884460	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6861214	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6886778	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6893164	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73771110	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73771113	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73771115	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73771117	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73771118	0.90[AMR][1000 genomes];0.84[ASN][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	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
2	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
3	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
4	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
5	esv2754394	chr5:90181320-90225796	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90163600-90194400	Weak transcription	Pancreas	Pancrea
2	chr5:90165400-90188800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:90168200-90186000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:90172600-90184400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:90174600-90185600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:90175000-90184400	Weak transcription	K562	blood
7	chr5:90179600-90190200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:90179800-90184600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:90179800-90184600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:90179800-90184600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:90179800-90191600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:90179800-90192000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:90180000-90184800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:90180000-90184800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:90180600-90186600	Enhancers	Hela-S3	cervix
16	chr5:90180800-90190200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:90181400-90185400	Enhancers	NHEK	skin
18	chr5:90182800-90184600	Enhancers	A549	lung
19	chr5:90183000-90184200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:90183200-90184600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:90183200-90188600	Weak transcription	Esophagus	oesophagus
22	chr5:90183200-90192200	Weak transcription	Gastric	stomach
23	chr5:90183400-90186200	Enhancers	Liver	Liver
24	chr5:90183800-90185200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:90183800-90185600	Weak transcription	Stomach Mucosa	stomach
26	chr5:90184000-90184800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:90184000-90185200	Enhancers	HUVEC	blood vessel
28	chr5:90184000-90186800	Enhancers	HepG2	liver

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