Variant report

Variant	rs8105815
Chromosome Location	chr19:41673848-41673849
allele	G/T
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	GATA3	chr19:41673698-41673886	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
RPL36P16	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10414612	0.90[CHB][hapmap]
rs10421210	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs10469283	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4802110	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803441	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803443	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56221133	0.90[ASN][1000 genomes]
rs56699599	0.90[ASN][1000 genomes]
rs56942707	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57837550	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58073287	0.92[ASN][1000 genomes]
rs58716442	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61154238	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61708463	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73931437	0.84[ASN][1000 genomes]
rs8100794	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101139	0.82[AMR][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	esv3391909	chr19:41632754-41688263	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv911767	chr19:41649516-41716271	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Prion diseases	22210626	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41662600-41678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:41664200-41675600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:41665400-41678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:41665400-41678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:41665400-41678400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr19:41665400-41678600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:41665800-41679000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:41666000-41681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:41666400-41678400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:41671000-41674000	Enhancers	Fetal Intestine Large	intestine
11	chr19:41671200-41675200	Enhancers	Stomach Mucosa	stomach
12	chr19:41671400-41675400	Weak transcription	Fetal Stomach	stomach
13	chr19:41671800-41674000	Enhancers	Fetal Intestine Small	intestine
14	chr19:41671800-41678400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:41672000-41679000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr19:41672000-41680800	Weak transcription	Hela-S3	cervix
17	chr19:41673400-41674000	Enhancers	HepG2	liver
18	chr19:41673600-41678400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:41673600-41678400	Weak transcription	Colonic Mucosa	Colon
20	chr19:41673800-41674000	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr19:41673800-41674000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr19:41673800-41677400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr19:41673800-41678200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:41673800-41678400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:41673800-41678400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:41673800-41678400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr19:41673800-41678400	Weak transcription	A549	lung
28	chr19:41673800-41678800	Weak transcription	Gastric	stomach

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