Variant report

Variant	rs1077236
Chromosome Location	chr8:130640501-130640502
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10092679	0.93[EUR][1000 genomes]
rs10101342	0.91[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16893247	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16904133	0.90[CEU][hapmap];0.83[CHB][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16904135	0.90[CEU][hapmap];0.83[CHB][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904140	0.84[CEU][hapmap]
rs28572791	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4295627	0.91[CEU][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes]
rs4367505	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4498505	0.91[CEU][hapmap];0.89[CHB][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5022680	0.93[EUR][1000 genomes]
rs6470745	0.91[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68055908	0.96[EUR][1000 genomes]
rs6985032	0.91[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7846223	1.00[YRI][hapmap]
rs891835	1.00[ASW][hapmap]

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	nsv612230	chr8:130624121-130661901	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1077236	FAM49B	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130636800-130651600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:130638200-130647600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:130638600-130642800	Enhancers	NHEK	skin
4	chr8:130638800-130642800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:130639400-130641400	Enhancers	Brain Germinal Matrix	brain
6	chr8:130639600-130642600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:130639600-130642600	Enhancers	HMEC	breast
8	chr8:130639800-130640600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:130639800-130640600	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr8:130639800-130641800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:130639800-130642800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:130640200-130640600	Flanking Active TSS	Brain Substantia Nigra	brain
13	chr8:130640200-130641000	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr8:130640200-130651600	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:130640400-130640600	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr8:130640400-130640600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr8:130640400-130641000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:130640400-130641200	Enhancers	Fetal Brain Male	brain
19	chr8:130640400-130641800	Enhancers	Brain Angular Gyrus	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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