Variant report

Variant	rs2975696
Chromosome Location	chr8:10112706-10112707
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12543766	0.90[TSI][hapmap]
rs17151405	0.86[CEU][hapmap]
rs2952223	0.83[CHB][hapmap]
rs2952225	0.81[YRI][hapmap]
rs2975702	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2975703	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4404920	0.90[TSI][hapmap]
rs6985068	0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2975696	FDFT1	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10096000-10128000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:10103200-10117800	Weak transcription	Pancreas	Pancrea
3	chr8:10103400-10115800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:10103600-10115600	Weak transcription	Fetal Intestine Small	intestine
5	chr8:10103600-10118000	Weak transcription	Gastric	stomach
6	chr8:10103600-10122600	Weak transcription	Spleen	Spleen
7	chr8:10104000-10124600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:10105600-10122800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:10108400-10113000	Weak transcription	Fetal Brain Male	brain
10	chr8:10111400-10113000	Enhancers	Fetal Muscle Leg	muscle
11	chr8:10111800-10113000	Weak transcription	Brain Germinal Matrix	brain
12	chr8:10112000-10113600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:10112200-10119200	Weak transcription	Primary B cells from cord blood	blood
14	chr8:10112200-10124600	Weak transcription	Adipose Nuclei	Adipose
15	chr8:10112200-10124600	Weak transcription	Brain Substantia Nigra	brain
16	chr8:10112200-10127800	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:10112600-10112800	Enhancers	Fetal Brain Female	brain
18	chr8:10112600-10113000	Enhancers	Fetal Muscle Trunk	muscle

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

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