Variant report

Variant	rs144626054
Chromosome Location	chr12:104533070-104533071
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	MXI1	chr12:104530363-104533203	SK-N-SH	brain:	n/a	chr12:104532334-104532343
2	REST	chr12:104530278-104533127	H1-neurons	neurons:	n/a	chr12:104532401-104532410 chr12:104531530-104531543 chr12:104531555-104531568 chr12:104532262-104532276 chr12:104532534-104532541 chr12:104532349-104532367 chr12:104532525-104532538 chr12:104532268-104532281 chr12:104531276-104531289

No.	Distal block	Cell Line	Cell type
1	chr12:104530782..104534411-chr12:104679881..104682289,3	K562	blood:
2	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
3	chr12:104531440..104533678-chr17:57914653..57916695,2	MCF-7	breast:
4	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
5	chr12:104510515..104519727-chr12:104525085..104533754,15	MCF-7	breast:
6	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
7	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
8	chr12:104530438..104533662-chr12:104564030..104567253,5	K562	blood:
9	chr12:104490343..104492832-chr12:104530682..104533569,2	MCF-7	breast:
10	chr12:104530672..104533179-chr6:154830934..154833113,2	MCF-7	breast:
11	chr12:104532395..104534218-chr12:104535636..104537137,2	K562	blood:
12	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
13	chr12:104357850..104359549-chr12:104531019..104533949,2	K562	blood:

Variant related genes	Relation type
NFYB	TF binding region
ENSG00000120820	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000153721	Chromatin interaction
ENSG00000257193	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000199415	Chromatin interaction
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
2	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
4	esv3378083	chr12:104530222-104533220	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv3356986	chr12:104530722-104533070	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
6	esv1822830	chr12:104531180-104535862	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
7	esv1851658	chr12:104531180-104535862	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
8	esv1836100	chr12:104531180-104558476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
9	esv1836581	chr12:104531180-104558476	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
10	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104530200-104533200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:104532200-104533200	Flanking Active TSS	Dnd41	blood
3	chr12:104532600-104533200	Flanking Active TSS	Fetal Brain Male	brain
4	chr12:104532600-104533200	Flanking Active TSS	Fetal Brain Female	brain
5	chr12:104532800-104533200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:104532800-104533200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:104532800-104533200	Enhancers	Fetal Muscle Leg	muscle
8	chr12:104532800-104533200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr12:104533000-104533200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:104533000-104533200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr12:104533000-104533200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr12:104533000-104533200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:104533000-104533200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:104533000-104533200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:104533000-104533200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:104533000-104533200	Active TSS	Brain Anterior Caudate	brain
17	chr12:104533000-104533200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr12:104533000-104533200	Enhancers	Colon Smooth Muscle	Colon
19	chr12:104533000-104533200	Enhancers	Fetal Kidney	kidney
20	chr12:104533000-104533200	Enhancers	Fetal Stomach	stomach
21	chr12:104533000-104533200	Enhancers	Rectal Smooth Muscle	rectum
22	chr12:104533000-104533200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:104533000-104533200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:104533000-104533200	Active TSS	Stomach Smooth Muscle	stomach
25	chr12:104533000-104533200	Enhancers	A549	lung
26	chr12:104533000-104533200	Enhancers	K562	blood
27	chr12:104533000-104533800	Weak transcription	Spleen	Spleen
28	chr12:104533000-104534200	Weak transcription	Placenta	Placenta
29	chr12:104533000-104537800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:104533000-104544200	Weak transcription	Pancreas	Pancrea
31	chr12:104533000-104560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links