Variant report

Variant	rs57173447
Chromosome Location	chr3:51836452-51836453
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	chr3:51734229..51736388-chr3:51834430..51837314,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1857800	0.82[EUR][1000 genomes]
rs1983106	0.82[EUR][1000 genomes]
rs2007607	0.82[EUR][1000 genomes]
rs2089224	0.82[EUR][1000 genomes]
rs55886133	0.88[EUR][1000 genomes]
rs55894445	0.82[EUR][1000 genomes]
rs56222927	0.82[EUR][1000 genomes]
rs56285190	0.82[EUR][1000 genomes]
rs56662100	0.82[EUR][1000 genomes]
rs56998832	0.82[EUR][1000 genomes]
rs57184058	0.82[EUR][1000 genomes]
rs57269235	0.82[EUR][1000 genomes]
rs57407585	0.82[EUR][1000 genomes]
rs59215394	0.82[EUR][1000 genomes]
rs60818362	0.82[EUR][1000 genomes]
rs61015325	0.82[EUR][1000 genomes]
rs61257131	0.82[EUR][1000 genomes]
rs6763197	0.82[EUR][1000 genomes]
rs6782139	0.82[EUR][1000 genomes]
rs6786848	0.82[EUR][1000 genomes]
rs6795223	0.82[EUR][1000 genomes]
rs73834765	0.82[EUR][1000 genomes]
rs73834766	0.82[EUR][1000 genomes]
rs73838706	0.82[EUR][1000 genomes]
rs73838710	0.82[EUR][1000 genomes]
rs73838711	0.82[EUR][1000 genomes]
rs7627992	0.82[EUR][1000 genomes]
rs7644969	0.82[EUR][1000 genomes]
rs986539	0.82[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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	53 gene(s)	inside rSNPs	diseases
2	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv3416846	chr3:51781117-51888179	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51832400-51836800	Enhancers	Fetal Thymus	thymus
2	chr3:51832800-51836600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:51832800-51838400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:51833000-51838600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:51834800-51837400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:51835200-51837400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:51835200-51838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:51835400-51837400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:51835600-51836800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:51835600-51837400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:51835800-51836600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:51835800-51836600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:51835800-51836800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr3:51835800-51836800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:51835800-51837000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:51835800-51837200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:51835800-51837200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:51836000-51836600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:51836000-51836800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr3:51836000-51836800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:51836000-51836800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:51836000-51836800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:51836200-51836800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:51836400-51836800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:51836400-51836800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr3:51836400-51836800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr3:51836400-51837400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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