Variant report

Variant	rs512943
Chromosome Location	chr15:73632869-73632870
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	chr15:73620319..73622578-chr15:73631546..73634347,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11630240	0.82[EUR][1000 genomes]
rs11639277	0.82[EUR][1000 genomes]
rs2247424	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478438	0.94[CHB][hapmap];0.83[CHD][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs488784	0.83[CHD][hapmap]
rs497859	0.84[ASN][1000 genomes]
rs513042	0.81[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs525964	0.86[ASN][1000 genomes]
rs547338	0.86[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs559632	0.90[ASN][1000 genomes]
rs568760	0.80[CHB][hapmap];0.91[CHD][hapmap];0.84[ASN][1000 genomes]
rs8024434	1.00[MEX][hapmap]
rs8027745	0.82[EUR][1000 genomes]
rs8032565	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv457202	chr15:73612377-73680301	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv569949	chr15:73612377-73680301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv524049	chr15:73612833-73680301	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73617800-73634600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr15:73621200-73634000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:73622000-73634000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:73622200-73634400	Weak transcription	Brain Germinal Matrix	brain
5	chr15:73623600-73635400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr15:73624000-73635400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:73624600-73635200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:73624600-73635600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:73626000-73637800	Enhancers	Fetal Heart	heart
10	chr15:73628200-73634200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:73628200-73635600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:73628400-73634400	Weak transcription	Fetal Brain Female	brain
13	chr15:73628400-73635000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:73628800-73634400	Weak transcription	Fetal Brain Male	brain
15	chr15:73630800-73640600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:73631800-73634200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:73631800-73634200	Weak transcription	Left Ventricle	heart
18	chr15:73632400-73636200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:73632600-73633200	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr15:73632600-73633200	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr15:73632600-73634000	Weak transcription	Right Atrium	heart

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