Variant report

Variant	rs10486872
Chromosome Location	chr7:69966192-69966193
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	chr7:69962073..69964244-chr7:69965970..69968066,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17568303	0.95[ASN][1000 genomes]
rs2866436	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094895	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094904	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3113274	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113282	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62455780	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62455786	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73175992	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1029586	chr7:69817143-69978454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv538927	chr7:69817143-69978454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1034697	chr7:69913860-70004248	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv538928	chr7:69913860-70004248	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10486872	WBSCR17	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69938400-69969000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:69943000-69984600	Weak transcription	Ovary	ovary
3	chr7:69953000-69976000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:69957200-69975000	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:69958400-69969200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:69960000-69967200	Weak transcription	Fetal Kidney	kidney
7	chr7:69960000-69971400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:69960400-69973000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:69962000-69966200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:69962000-69967000	Weak transcription	Gastric	stomach
11	chr7:69962000-69971000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:69963000-69967000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:69964000-69970000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:69964000-69970400	Weak transcription	Fetal Lung	lung
15	chr7:69964200-69966200	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:69964200-69966600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:69964600-69969200	Weak transcription	Fetal Brain Male	brain
18	chr7:69964600-69969200	Weak transcription	Fetal Brain Female	brain
19	chr7:69964800-69967000	Enhancers	Placenta	Placenta
20	chr7:69965400-69966400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:69965800-69970200	Weak transcription	Fetal Stomach	stomach

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