Variant report

Variant	rs7825818
Chromosome Location	chr8:9568910-9568911
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10095667	0.82[EUR][1000 genomes]
rs10100914	0.83[YRI][hapmap]
rs11249930	0.85[CEU][hapmap];0.81[GIH][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap]
rs11249943	0.89[ASW][hapmap];0.81[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11779335	0.80[MEX][hapmap]
rs11784181	0.85[CEU][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap]
rs12549064	0.85[CEU][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap]
rs13249683	0.80[CEU][hapmap]
rs13265931	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13275314	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35039536	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35468013	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4240630	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4413778	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4427176	0.90[CEU][hapmap];0.92[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4457339	0.85[CEU][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap]
rs4562329	0.85[CEU][hapmap]
rs4573280	0.85[CEU][hapmap];0.81[GIH][hapmap];0.81[TSI][hapmap]
rs4841200	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4841205	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4841208	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59004915	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62489364	0.83[ASN][1000 genomes]
rs62491551	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62491552	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6601355	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997419	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7001044	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7006406	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7459728	0.86[LWK][hapmap]
rs7462910	0.80[MEX][hapmap]
rs7464528	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7825818	MFHAS1	cis	cerebellum	SCAN
rs7825818	TNKS	cis	parietal	SCAN
rs7825818	C8orf79	cis	parietal	SCAN
rs7825818	DEFB134	cis	cerebellum	SCAN
rs7825818	PRSS55	cis	cerebellum	SCAN
rs7825818	DEFA5	cis	cerebellum	SCAN
rs7825818	BLK	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:9529600-9606400	Weak transcription	Esophagus	oesophagus
3	chr8:9535000-9608000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:9537600-9592400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:9541400-9592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:9542200-9606800	Weak transcription	Small Intestine	intestine
7	chr8:9543000-9592200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:9543400-9606400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:9544000-9586200	Weak transcription	Thymus	Thymus
10	chr8:9544000-9592400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:9544000-9592400	Weak transcription	Psoas Muscle	Psoas
12	chr8:9544200-9571200	Weak transcription	Aorta	Aorta
13	chr8:9545600-9592400	Weak transcription	Brain Angular Gyrus	brain
14	chr8:9548000-9570600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:9548400-9584400	Weak transcription	Hela-S3	cervix
16	chr8:9550000-9627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:9551000-9592400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:9551200-9610600	Weak transcription	Fetal Brain Male	brain
19	chr8:9554800-9575600	Weak transcription	Fetal Heart	heart
20	chr8:9555400-9586400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:9556800-9569600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:9557400-9632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:9558000-9592400	Weak transcription	Gastric	stomach
24	chr8:9558400-9597600	Weak transcription	Spleen	Spleen
25	chr8:9558400-9605000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:9559400-9592400	Weak transcription	Right Ventricle	heart
27	chr8:9560600-9609200	Weak transcription	K562	blood
28	chr8:9561000-9616200	Weak transcription	Brain Substantia Nigra	brain
29	chr8:9561200-9576800	Weak transcription	GM12878-XiMat	blood
30	chr8:9561400-9592000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:9562000-9569800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:9562000-9572800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:9562000-9574400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:9562200-9569800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:9562200-9577800	Weak transcription	Lung	lung
36	chr8:9562200-9608000	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:9562400-9569000	Strong transcription	Primary B cells from cord blood	blood
38	chr8:9562400-9572400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:9562600-9573000	Strong transcription	Dnd41	blood
40	chr8:9562600-9573200	Strong transcription	Primary T cells from cord blood	blood
41	chr8:9562600-9573800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:9562600-9592400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:9562800-9569800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:9562800-9573000	Strong transcription	Liver	Liver
45	chr8:9562800-9592400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:9563400-9570200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:9563600-9569800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:9563600-9569800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr8:9563600-9570000	Strong transcription	HepG2	liver
50	chr8:9563600-9571800	Strong transcription	Primary T cells fromperipheralblood	blood

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