Variant report

Variant	rs57778181
Chromosome Location	chr5:111690221-111690222
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111683856..111685558-chr5:111688927..111690455,2	MCF-7	breast:
2	chr5:111672466..111674712-chr5:111689508..111691131,2	K562	blood:
3	chr5:111685601..111687919-chr5:111689516..111692384,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17134335	0.84[ASN][1000 genomes]
rs17134357	0.84[ASN][1000 genomes]
rs17134381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17134382	0.92[ASN][1000 genomes]
rs17134384	0.92[ASN][1000 genomes]
rs56018262	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57004301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57211830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60021992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60193147	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60730910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60806157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60836718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6594590	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6863425	0.92[ASN][1000 genomes]
rs6867914	0.84[ASN][1000 genomes]
rs6875349	0.84[ASN][1000 genomes]
rs6893840	0.92[ASN][1000 genomes]
rs6894365	0.92[ASN][1000 genomes]
rs7703875	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7714258	0.85[ASN][1000 genomes]
rs7716246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7716394	0.93[ASN][1000 genomes]
rs7720272	0.84[ASN][1000 genomes]
rs7723364	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7737622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs821750	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs999243	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh 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	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv462386	chr5:111667572-111699317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv599372	chr5:111667572-111699317	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv437471	chr5:111682654-111691924	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv274937	chr5:111688750-111691016	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111678600-111695600	Weak transcription	Pancreas	Pancrea
2	chr5:111684000-111702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:111685200-111690600	Weak transcription	GM12878-XiMat	blood
4	chr5:111685200-111707000	Weak transcription	Ovary	ovary
5	chr5:111685200-111709800	Weak transcription	Aorta	Aorta
6	chr5:111685800-111693600	Weak transcription	Right Atrium	heart
7	chr5:111686400-111692000	Weak transcription	Right Ventricle	heart
8	chr5:111687200-111693600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:111687600-111690400	Weak transcription	HUVEC	blood vessel
10	chr5:111688800-111690400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:111689000-111690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:111689200-111691800	Weak transcription	Fetal Heart	heart
13	chr5:111689200-111702200	Weak transcription	Gastric	stomach
14	chr5:111689400-111690400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:111689400-111690600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:111689600-111690400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:111689600-111690400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:111689600-111690600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:111689600-111693600	Weak transcription	Left Ventricle	heart
20	chr5:111689600-111708800	Weak transcription	Esophagus	oesophagus
21	chr5:111689800-111690400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:111689800-111690600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:111689800-111691200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:111690000-111691000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:111690000-111692400	Weak transcription	Brain Substantia Nigra	brain

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