Variant report

Variant	rs1019221
Chromosome Location	chr7:121572718-121572719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10256876	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10278079	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10280935	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1206515	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28660593	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779378	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817483	0.90[GIH][hapmap]
rs6466808	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6466810	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6948149	0.98[ASN][1000 genomes]
rs6955395	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6969396	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6974359	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791779	0.97[ASN][1000 genomes]
rs7808921	0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1019221	WASL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121565800-121576800	Weak transcription	Fetal Brain Female	brain
2	chr7:121570800-121573000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:121570800-121573200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:121571000-121573000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:121571000-121573000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:121571400-121573200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:121571400-121573200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:121571400-121573200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:121571400-121573200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:121571400-121577400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:121571600-121574400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:121571600-121597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:121571800-121576400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:121571800-121576600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:121571800-121578400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:121571800-121601200	Weak transcription	Esophagus	oesophagus
17	chr7:121572000-121573200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:121572000-121574000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:121572000-121574000	Weak transcription	NHEK	skin
20	chr7:121572000-121575000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:121572000-121575200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:121572000-121576600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:121572000-121576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:121572000-121576800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:121572000-121576800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:121572200-121572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:121572200-121574000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:121572600-121573000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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