Variant report

Variant	rs12138736
Chromosome Location	chr1:46999758-46999759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr1:46998665-46999856	NT2-D1	testis:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46995357..46997930-chr1:46998172..47001101,2	K562	blood:
2	chr1:46993019..46995124-chr1:46997207..47000193,2	K562	blood:
3	chr1:46999087..47000869-chr1:47002211..47004388,2	K562	blood:
4	chr1:46957792..46960290-chr1:46997960..47000154,2	K562	blood:
5	chr1:46999703..47001765-chr1:47004931..47007448,2	K562	blood:
6	chr1:46991343..46993867-chr1:46999372..47001574,2	K562	blood:

No data

Variant related genes	Relation type
MKNK1-AS1	TF binding region
ENSG00000269956	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2896917	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3737741	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv998422	chr1:46969626-47023671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv534953	chr1:46969626-47023671	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1010578	chr1:46977818-47010579	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv3359320	chr1:46997790-47000338	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12138736	FAM183A	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46994200-47000800	Weak transcription	K562	blood
2	chr1:46998000-46999800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:46998400-47000000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:46998600-46999800	Active TSS	Colon Smooth Muscle	Colon
5	chr1:46999000-47000000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:46999400-46999800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:46999600-46999800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:46999600-46999800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:46999600-46999800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:46999600-46999800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:46999600-46999800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:46999600-46999800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:46999600-46999800	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:46999600-46999800	Enhancers	Brain Hippocampus Middle	brain
15	chr1:46999600-46999800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:46999600-46999800	Enhancers	Right Ventricle	heart
17	chr1:46999600-46999800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr1:46999600-46999800	Flanking Active TSS	Spleen	Spleen
19	chr1:46999600-47000000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:46999600-47035000	Weak transcription	Right Atrium	heart

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