Variant report

Variant	rs1148551
Chromosome Location	chr12:57945860-57945861
allele	C/T
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	GATA1	chr12:57945243-57946649	PBDE	blood:	n/a	chr12:57946221-57946232
2	NR2F2	chr12:57945472-57947030	K562	blood:	n/a	n/a
3	GATA1	chr12:57944744-57947462	K562	blood:	n/a	chr12:57946745-57946756 chr12:57946221-57946232
4	REST	chr12:57945752-57947659	H1-neurons	neurons:	n/a	chr12:57947509-57947517 chr12:57946644-57946662 chr12:57946643-57946663 chr12:57946643-57946657 chr12:57946643-57946663 chr12:57946643-57946663
5	CBX3	chr12:57945819-57947180	K562	blood:	n/a	n/a
6	RCOR1	chr12:57945590-57947110	K562	blood:	n/a	n/a
7	TEAD4	chr12:57945812-57947451	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57938950..57942640-chr12:57942750..57946701,7	K562	blood:
2	chr12:57943956..57946455-chr12:58007674..58010522,2	K562	blood:
3	chr12:57944505..57946721-chr12:57948571..57950462,2	MCF-7	breast:
4	chr12:57945771..57947277-chr12:57984418..57986115,2	MCF-7	breast:

Variant related genes	Relation type
DCTN2	TF binding region
ENSG00000240771	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000175203	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2599999	0.89[EUR][1000 genomes]
rs775238	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

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	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
2	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
9	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
10	nsv1053930	chr12:57921188-57969659	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57943600-57946800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr12:57943800-57948000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:57944200-57946000	Weak transcription	A549	lung
4	chr12:57944400-57947400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:57944600-57957400	Weak transcription	Aorta	Aorta
6	chr12:57944800-57946000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:57944800-57946000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:57944800-57946000	Transcr. at gene 5' and 3'	K562	blood
9	chr12:57944800-57946200	Active TSS	Brain Angular Gyrus	brain
10	chr12:57944800-57946400	Weak transcription	NH-A	brain
11	chr12:57944800-57946600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:57944800-57946800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:57944800-57946800	Active TSS	Brain Cingulate Gyrus	brain
14	chr12:57944800-57946800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:57944800-57946800	Enhancers	HepG2	liver
16	chr12:57944800-57947800	Flanking Active TSS	Fetal Brain Female	brain
17	chr12:57944800-57948000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:57944800-57948000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:57944800-57950400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:57944800-57957400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:57945000-57947600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:57945000-57948200	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr12:57945200-57946000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:57945400-57946200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr12:57945400-57946600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:57945400-57947000	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:57945600-57946000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr12:57945800-57946000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:57945800-57946200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:57945800-57946200	Flanking Active TSS	Fetal Brain Male	brain
31	chr12:57945800-57946400	Enhancers	Brain Anterior Caudate	brain
32	chr12:57945800-57947400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:57945800-57947800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:57945800-57948000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links