Variant report

Variant	rs7918947
Chromosome Location	chr10:97325729-97325730
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:97325660-97325810	HVMF	connective:	n/a	n/a
2	CTCF	chr10:97325580-97325730	HVMF	connective:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97321491..97323159-chr10:97323965..97326308,2	K562	blood:
2	chr10:97249016..97250688-chr10:97324094..97327075,2	MCF-7	breast:

Variant related genes	Relation type
SORBS1	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1078641	0.95[CHB][hapmap]
rs11188398	0.84[MEX][hapmap]
rs11188411	0.84[MEX][hapmap]
rs11188417	0.80[MEX][hapmap]
rs1254093	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1270505	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1272125	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12767387	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12768725	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12769076	0.94[ASN][1000 genomes]
rs4037	0.84[MEX][hapmap]
rs4258314	0.80[MEX][hapmap]
rs493193	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs495998	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs498055	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs500470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs526928	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs527043	0.96[CEU][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs530773	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs533383	0.87[JPT][hapmap]
rs557043	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55799794	0.81[AMR][1000 genomes]
rs568046	0.95[CHB][hapmap];0.83[MEX][hapmap]
rs576080	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7070798	0.95[CHB][hapmap]
rs7086071	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086880	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7090870	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9630087	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv552022	chr10:97308114-97328227	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv524227	chr10:97324127-97328227	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7918947	ALDH18A1	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97321600-97327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr10:97321600-97327600	Weak transcription	Right Atrium	heart
3	chr10:97321600-97328000	Weak transcription	Lung	lung
4	chr10:97321600-97329200	Enhancers	Placenta	Placenta
5	chr10:97321600-97332200	Weak transcription	Right Ventricle	heart
6	chr10:97321800-97325800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:97321800-97327800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:97321800-97331800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr10:97321800-97332200	Weak transcription	Brain Anterior Caudate	brain
10	chr10:97322000-97327600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:97322400-97328200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:97322400-97328200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:97323000-97328000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:97324600-97326200	Enhancers	Fetal Lung	lung
15	chr10:97324600-97326200	Enhancers	Rectal Smooth Muscle	rectum
16	chr10:97324600-97326400	Enhancers	Fetal Stomach	stomach
17	chr10:97324800-97326600	Enhancers	Colon Smooth Muscle	Colon
18	chr10:97325000-97326600	Enhancers	HepG2	liver
19	chr10:97325400-97325800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:97325400-97326200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:97325400-97326200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr10:97325600-97325800	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr10:97325600-97326200	Enhancers	Brain Cingulate Gyrus	brain
24	chr10:97325600-97326200	Enhancers	Hela-S3	cervix
25	chr10:97325600-97326400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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