Variant report

Variant	rs74093115
Chromosome Location	chr12:57621349-57621350
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	ELF1	chr12:57620815-57621459	GM12878	blood:	n/a	chr12:57621277-57621286 chr12:57621274-57621287 chr12:57621353-57621362 chr12:57621276-57621287 chr12:57621276-57621287
2	SIN3A	chr12:57621018-57621615	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr12:57620922-57621707	K562	blood:	n/a	chr12:57621277-57621286 chr12:57621274-57621287 chr12:57621353-57621362 chr12:57621276-57621287 chr12:57621276-57621287
4	ZNF263	chr12:57621046-57621792	HEK293-T-REx	kidney:	n/a	chr12:57621545-57621566
5	ELF1	chr12:57621061-57621544	GM12878	blood:	n/a	chr12:57621277-57621286 chr12:57621274-57621287 chr12:57621353-57621362 chr12:57621276-57621287 chr12:57621276-57621287
6	ELF1	chr12:57621063-57621445	HepG2	liver:	n/a	chr12:57621277-57621286 chr12:57621274-57621287 chr12:57621353-57621362 chr12:57621276-57621287 chr12:57621276-57621287
7	CTBP2	chr12:57620903-57621480	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SHMT2	TF binding region
ENSG00000202067	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11172219	1.00[EUR][1000 genomes]
rs11557166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17854829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34248177	1.00[EUR][1000 genomes]
rs34950222	1.00[EUR][1000 genomes]
rs35021926	1.00[EUR][1000 genomes]
rs56273568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61978619	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62620661	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7304504	1.00[EUR][1000 genomes]
rs74093103	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74093104	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74093113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74093117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	esv1809338	chr12:57580227-57628338	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv899116	chr12:57597169-57623363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57611400-57623000	Weak transcription	Right Atrium	heart
2	chr12:57613200-57621800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:57613400-57621600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr12:57615000-57622800	Weak transcription	A549	lung
5	chr12:57617200-57621400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr12:57618200-57621800	Bivalent Enhancer	Fetal Thymus	thymus
7	chr12:57618400-57621600	Bivalent Enhancer	Fetal Stomach	stomach
8	chr12:57618800-57621400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr12:57618800-57621400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
10	chr12:57618800-57621600	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr12:57619000-57621400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:57619000-57621600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
13	chr12:57619000-57622000	Enhancers	GM12878-XiMat	blood
14	chr12:57619200-57621400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:57619800-57623000	Weak transcription	Gastric	stomach
16	chr12:57620000-57622400	Weak transcription	Dnd41	blood
17	chr12:57620200-57621400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr12:57620200-57621800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:57620400-57621400	Bivalent Enhancer	Lung	lung
20	chr12:57620400-57621400	Bivalent Enhancer	NH-A	brain
21	chr12:57620400-57621600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:57620400-57621600	Bivalent Enhancer	Fetal Lung	lung
23	chr12:57620400-57622800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:57620600-57621400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr12:57620600-57621400	Bivalent Enhancer	Thymus	Thymus
26	chr12:57620600-57621600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr12:57620600-57621600	Bivalent Enhancer	HepG2	liver
28	chr12:57620600-57623400	Weak transcription	Pancreas	Pancrea
29	chr12:57620800-57621400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr12:57620800-57621400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:57620800-57621400	Flanking Active TSS	Osteobl	bone
32	chr12:57620800-57621600	Enhancers	Colonic Mucosa	Colon
33	chr12:57620800-57621800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:57620800-57622000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:57621000-57621400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr12:57621000-57621400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:57621000-57621400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:57621000-57621400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
39	chr12:57621000-57621400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
40	chr12:57621000-57621600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr12:57621000-57621600	Bivalent Enhancer	Fetal Intestine Small	intestine
42	chr12:57621000-57621800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
43	chr12:57621000-57621800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
44	chr12:57621000-57621800	Flanking Active TSS	K562	blood
45	chr12:57621000-57621800	Enhancers	NHLF	lung
46	chr12:57621000-57622000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:57621000-57623000	Weak transcription	Right Ventricle	heart
48	chr12:57621200-57621400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:57621200-57621400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr12:57621200-57621400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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