Variant report

Variant	rs11172083
Chromosome Location	chr12:57413286-57413287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:57413079-57413333	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57398824..57401000-chr12:57412790..57415215,2	MCF-7	breast:
2	chr12:57412603..57414903-chr12:57480761..57483298,2	MCF-7	breast:
3	chr12:57409519..57411524-chr12:57412788..57414376,2	K562	blood:

Variant related genes	Relation type
TAC3	TF binding region
ENSG00000166886	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000166863	Chromatin interaction
ENSG00000166860	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11172087	1.00[AMR][1000 genomes]
rs11838119	1.00[EUR][1000 genomes]
rs12297756	1.00[EUR][1000 genomes]
rs2229281	1.00[AMR][1000 genomes]
rs34035404	1.00[AMR][1000 genomes]
rs34241718	1.00[AMR][1000 genomes]
rs34377647	1.00[EUR][1000 genomes]
rs57244425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60301769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60957079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61303242	1.00[EUR][1000 genomes]
rs61609471	1.00[AMR][1000 genomes]
rs73330570	1.00[AMR][1000 genomes]
rs73330571	1.00[AMR][1000 genomes]
rs73332659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73332662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73332664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73332676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73332678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73332681	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57409800-57413800	Weak transcription	Fetal Thymus	thymus
2	chr12:57410200-57418000	Weak transcription	Brain Germinal Matrix	brain
3	chr12:57410200-57420800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:57410600-57420600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:57411600-57413400	Enhancers	Placenta	Placenta
6	chr12:57411800-57413400	Enhancers	HepG2	liver
7	chr12:57412000-57416800	Weak transcription	Fetal Intestine Small	intestine
8	chr12:57412000-57419800	Weak transcription	Fetal Intestine Large	intestine
9	chr12:57412200-57415400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:57412400-57413400	Enhancers	Rectal Smooth Muscle	rectum
11	chr12:57412400-57416000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:57412600-57413400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:57412600-57413400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:57412600-57414000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:57412600-57415200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:57412600-57415200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:57412600-57415400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:57412600-57416000	Enhancers	Primary T cells from cord blood	blood
19	chr12:57412600-57420400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:57412800-57413400	Enhancers	Adipose Nuclei	Adipose
21	chr12:57413000-57413400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:57413000-57415400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:57413000-57416000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:57413200-57413400	Enhancers	Spleen	Spleen
25	chr12:57413200-57414800	Enhancers	Primary B cells from cord blood	blood
26	chr12:57413200-57416000	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:57413200-57420400	Weak transcription	Placenta Amnion	Placenta Amnion

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