Variant report

Variant	rs57004301
Chromosome Location	chr5:111683645-111683646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111681506..111684177-chr5:111711327..111713137,2	K562	blood:
2	chr5:111678130..111679875-chr5:111682477..111684112,2	K562	blood:

Extended variants
information (count: 37 )
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]
rs57211830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57778181	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:9 , 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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111675600-111687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:111676200-111689000	Weak transcription	Lung	lung
4	chr5:111678400-111684600	Weak transcription	Right Ventricle	heart
5	chr5:111678400-111689000	Weak transcription	Gastric	stomach
6	chr5:111678600-111683800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:111678600-111695600	Weak transcription	Pancreas	Pancrea
8	chr5:111678800-111684200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:111679000-111683800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:111681200-111685000	Weak transcription	Ovary	ovary
11	chr5:111682600-111683800	Enhancers	Spleen	Spleen
12	chr5:111682600-111687800	Enhancers	Fetal Heart	heart
13	chr5:111682800-111685000	Weak transcription	Left Ventricle	heart
14	chr5:111682800-111685200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:111682800-111685800	Enhancers	Right Atrium	heart
16	chr5:111683000-111683800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:111683000-111685200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:111683200-111683800	Enhancers	GM12878-XiMat	blood
19	chr5:111683400-111683800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:111683400-111684800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:111683400-111685000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:111683400-111685000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:111683400-111685000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:111683400-111685600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:111683600-111684000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:111683600-111684000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:111683600-111684000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:111683600-111684200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:111683600-111684400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:111683600-111684800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr5:111683600-111685400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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