Variant report

Variant	rs11057146
Chromosome Location	chr12:8235900-8235901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8234739..8236344-chr12:8242964..8245386,2	MCF-7	breast:
2	chr12:8217345..8219129-chr12:8233768..8236260,3	K562	blood:
3	chr12:8183609..8186953-chr12:8232808..8236299,4	K562	blood:
4	chr12:8145440..8147761-chr12:8234352..8236244,2	MCF-7	breast:
5	chr12:8235810..8237492-chr12:8240901..8243494,2	K562	blood:

Variant related genes	Relation type
ENSG00000065970	Chromatin interaction
ENSG00000240739	Chromatin interaction
ENSG00000089818	Chromatin interaction
ENSG00000171860	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10744118	1.00[CHB][hapmap]
rs17728579	1.00[CHB][hapmap]
rs4242904	1.00[CHB][hapmap]
rs722457	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS 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 target site	82 gene(s)	inside rSNPs	diseases
8	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
11	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv430460	chr12:8225225-8388656	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8233000-8236000	Active TSS	K562	blood
2	chr12:8233800-8236000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:8233800-8236000	Active TSS	Colonic Mucosa	Colon
4	chr12:8233800-8236000	Active TSS	Fetal Intestine Large	intestine
5	chr12:8234000-8236000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:8234000-8236000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:8234000-8236000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:8234000-8236200	Active TSS	NHLF	lung
9	chr12:8234200-8236000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:8234200-8236000	Active TSS	NHDF-Ad	bronchial
11	chr12:8235000-8236000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:8235000-8236000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:8235000-8236000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:8235000-8236400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr12:8235200-8236000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr12:8235200-8236000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr12:8235200-8236000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr12:8235200-8236000	Flanking Active TSS	HUVEC	blood vessel
19	chr12:8235200-8236000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr12:8235200-8236000	Flanking Active TSS	NHEK	skin
21	chr12:8235200-8236200	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr12:8235200-8236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:8235400-8236000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:8235400-8236000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:8235400-8236000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr12:8235400-8236000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr12:8235400-8236000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:8235400-8236000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:8235400-8236000	Flanking Active TSS	Liver	Liver
30	chr12:8235400-8236000	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr12:8235400-8236000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr12:8235400-8236000	Flanking Active TSS	Fetal Brain Male	brain
33	chr12:8235400-8236000	Flanking Active TSS	Fetal Brain Female	brain
34	chr12:8235400-8236000	Flanking Active TSS	Fetal Stomach	stomach
35	chr12:8235400-8236000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr12:8235400-8236000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:8235400-8236000	Flanking Active TSS	Hela-S3	cervix
38	chr12:8235400-8236200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:8235400-8236400	Weak transcription	Small Intestine	intestine
40	chr12:8235400-8237000	Flanking Active TSS	Dnd41	blood
41	chr12:8235400-8237200	Enhancers	Spleen	Spleen
42	chr12:8235400-8244000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:8235400-8247200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr12:8235600-8236000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:8235600-8236000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:8235600-8236000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:8235600-8236000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr12:8235600-8236000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:8235600-8236000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:8235600-8236000	Flanking Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links