Variant report

Variant	rs2229281
Chromosome Location	chr12:57579435-57579436
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:8)
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	POLR2A	chr12:57579389-57579593	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57574962..57576998-chr12:57578959..57581082,2	K562	blood:
2	chr12:57485447..57487110-chr12:57577683..57580330,2	MCF-7	breast:
3	chr12:57480529..57483357-chr12:57577907..57579973,2	K562	blood:
4	chr12:57578786..57581016-chr12:57606054..57608817,2	MCF-7	breast:
5	chr12:57504145..57507554-chr12:57578690..57582057,3	MCF-7	breast:
6	chr12:57569226..57571527-chr12:57578285..57580181,2	K562	blood:
7	chr12:57577559..57581276-chr12:57585770..57588469,3	MCF-7	breast:
8	chr12:57576952..57579593-chr12:57580712..57583251,3	K562	blood:

No data

Variant related genes	Relation type
LRP1	TF binding region
ENSG00000123384	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000221365	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11172083	1.00[AMR][1000 genomes]
rs11172087	1.00[AMR][1000 genomes]
rs34035404	1.00[AMR][1000 genomes]
rs34241718	1.00[AMR][1000 genomes]
rs34740242	0.87[AFR][1000 genomes]
rs57244425	1.00[AMR][1000 genomes]
rs60301769	1.00[AMR][1000 genomes]
rs60957079	1.00[AMR][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]
rs73332662	1.00[AMR][1000 genomes]
rs73332664	1.00[AMR][1000 genomes]
rs73332676	1.00[AMR][1000 genomes]
rs73332678	1.00[AMR][1000 genomes]
rs73332681	1.00[AMR][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	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	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv899112	chr12:57535266-57601388	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv899113	chr12:57543572-57601388	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv899114	chr12:57556768-57587839	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	esv3370587	chr12:57577235-57580033	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:57552800-57606800	Strong transcription	Fetal Intestine Large	intestine
5	chr12:57552800-57607000	Strong transcription	Liver	Liver
6	chr12:57553200-57607400	Strong transcription	Fetal Intestine Small	intestine
7	chr12:57555400-57583200	Weak transcription	Fetal Heart	heart
8	chr12:57557400-57606800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:57560800-57606200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:57560800-57606600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:57565800-57606600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:57566000-57604200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:57566400-57583600	Strong transcription	Colon Smooth Muscle	Colon
14	chr12:57566600-57606200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:57567200-57583600	Weak transcription	Right Atrium	heart
16	chr12:57567400-57584200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:57569400-57584000	Strong transcription	Rectal Smooth Muscle	rectum
18	chr12:57569800-57600800	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr12:57570000-57581200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:57570000-57582000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:57570000-57583200	Strong transcription	Fetal Muscle Leg	muscle
22	chr12:57570200-57606800	Strong transcription	Fetal Stomach	stomach
23	chr12:57570400-57581200	Strong transcription	HSMM	muscle
24	chr12:57570600-57606800	Strong transcription	Osteobl	bone
25	chr12:57570800-57605400	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr12:57571000-57585200	Weak transcription	Fetal Brain Male	brain
27	chr12:57571400-57580000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:57574400-57586400	Weak transcription	Small Intestine	intestine
29	chr12:57574600-57584400	Genic enhancers	Placenta	Placenta
30	chr12:57575600-57585400	Strong transcription	NHLF	lung
31	chr12:57575800-57583800	Strong transcription	Fetal Lung	lung
32	chr12:57576000-57586400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:57576200-57583800	Strong transcription	Adipose Nuclei	Adipose
34	chr12:57576200-57605600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:57576200-57606400	Strong transcription	NHDF-Ad	bronchial
36	chr12:57576600-57583800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:57576800-57583400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:57576800-57583600	Strong transcription	Brain Angular Gyrus	brain
39	chr12:57576800-57583800	Strong transcription	Fetal Brain Female	brain
40	chr12:57576800-57583800	Strong transcription	Right Ventricle	heart
41	chr12:57576800-57584000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:57576800-57604800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:57576800-57605000	Strong transcription	HSMMtube	muscle
44	chr12:57576800-57606600	Strong transcription	HepG2	liver
45	chr12:57576800-57607000	Strong transcription	Brain Germinal Matrix	brain
46	chr12:57577000-57580200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:57577000-57583800	Strong transcription	Brain Hippocampus Middle	brain
48	chr12:57577000-57585200	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr12:57577000-57585400	Strong transcription	Gastric	stomach
50	chr12:57577000-57585800	Strong transcription	Spleen	Spleen

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