Variant report

Variant	rs17403341
Chromosome Location	chr8:126325828-126325829
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13253942	1.00[ASW][hapmap]
rs13259062	1.00[ASW][hapmap]
rs13279146	1.00[ASW][hapmap]
rs16900479	1.00[CHB][hapmap]
rs17318327	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17319374	1.00[ASW][hapmap]
rs4006653	0.92[ASN][1000 genomes]
rs58650877	0.92[ASN][1000 genomes]
rs60652599	0.92[ASN][1000 genomes]
rs6651234	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6651235	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6651236	0.89[ASN][1000 genomes]
rs6651237	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs7004876	0.92[ASN][1000 genomes]
rs73336867	0.92[ASN][1000 genomes]
rs73338880	0.92[ASN][1000 genomes]
rs73338881	0.92[ASN][1000 genomes]
rs73338901	0.92[ASN][1000 genomes]
rs7824635	1.00[CHB][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17403341	FAM84B	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:126308000-126336000	Weak transcription	Psoas Muscle	Psoas
3	chr8:126318600-126354600	Weak transcription	Ovary	ovary
4	chr8:126320000-126328200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:126320200-126328800	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:126320400-126326600	Weak transcription	Left Ventricle	heart
7	chr8:126321000-126329200	Weak transcription	Gastric	stomach
8	chr8:126322000-126328200	Weak transcription	Colonic Mucosa	Colon
9	chr8:126322000-126332000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
11	chr8:126322200-126328200	Weak transcription	Small Intestine	intestine
12	chr8:126322600-126328000	Weak transcription	Placenta	Placenta
13	chr8:126323200-126326200	Weak transcription	GM12878-XiMat	blood
14	chr8:126323600-126327200	Weak transcription	A549	lung
15	chr8:126323600-126330800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:126323600-126340200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:126323800-126327400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:126323800-126328200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:126324000-126328800	Weak transcription	HSMM	muscle
20	chr8:126324000-126331600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
22	chr8:126325000-126327400	Weak transcription	Fetal Intestine Large	intestine
23	chr8:126325000-126328000	Enhancers	K562	blood
24	chr8:126325200-126327800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:126325200-126328400	Weak transcription	HepG2	liver
26	chr8:126325400-126326000	Enhancers	Fetal Brain Male	brain
27	chr8:126325400-126326000	Enhancers	Fetal Heart	heart
28	chr8:126325400-126327400	Weak transcription	Fetal Intestine Small	intestine
29	chr8:126325800-126326000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:126325800-126326000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:126325800-126327000	Weak transcription	Rectal Mucosa Donor 31	rectum

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