Variant report

Variant	rs74093113
Chromosome Location	chr12:57620529-57620530
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	EGR1	chr12:57620529-57621131	K562	blood:	n/a	chr12:57620988-57621001 chr12:57620835-57620848 chr12:57620735-57620748 chr12:57620988-57621001 chr12:57620988-57620998 chr12:57620953-57620963 chr12:57620952-57620965 chr12:57620949-57620963 chr12:57620951-57620966 chr12:57620987-57621002 chr12:57620734-57620749 chr12:57620952-57620962 chr12:57620952-57620965 chr12:57620890-57620903 chr12:57620770-57620780
2	POLR2A	chr12:57620379-57620707	K562	blood:	n/a	n/a
3	SIN3A	chr12:57620294-57620680	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:57620520-57620801	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3AK20	chr12:57620488-57620802	H1-hESC	embryonic stem cell:	n/a	n/a
6	ELF1	chr12:57620140-57620651	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57618582..57621121-chr12:57939441..57941129,2	K562	blood:

Variant related genes	Relation type
SHMT2	TF binding region
ENSG00000202067	TF binding region
ENSG00000175203	Chromatin interaction

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[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]
rs74093115	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:85 , 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	chr12:57618200-57620600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
7	chr12:57618200-57621200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr12:57618200-57621800	Bivalent Enhancer	Fetal Thymus	thymus
9	chr12:57618400-57620600	Enhancers	Pancreas	Pancrea
10	chr12:57618400-57620600	Enhancers	Spleen	Spleen
11	chr12:57618400-57620800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr12:57618400-57620800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
13	chr12:57618400-57621000	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr12:57618400-57621600	Bivalent Enhancer	Fetal Stomach	stomach
15	chr12:57618600-57621200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr12:57618800-57621200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:57618800-57621200	Bivalent Enhancer	Fetal Brain Male	brain
18	chr12:57618800-57621400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr12:57618800-57621400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
20	chr12:57618800-57621600	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr12:57619000-57621000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
22	chr12:57619000-57621000	Bivalent Enhancer	Brain Germinal Matrix	brain
23	chr12:57619000-57621400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:57619000-57621600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
25	chr12:57619000-57622000	Enhancers	GM12878-XiMat	blood
26	chr12:57619200-57621000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr12:57619200-57621400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:57619400-57620600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr12:57619400-57621000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:57619400-57621200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr12:57619600-57620600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr12:57619800-57621200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr12:57619800-57623000	Weak transcription	Gastric	stomach
34	chr12:57620000-57621000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:57620000-57621000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr12:57620000-57621000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:57620000-57621200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr12:57620000-57622400	Weak transcription	Dnd41	blood
39	chr12:57620200-57620600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr12:57620200-57620600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr12:57620200-57620600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:57620200-57620600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:57620200-57620600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr12:57620200-57620600	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr12:57620200-57620800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:57620200-57620800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:57620200-57621000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:57620200-57621000	Enhancers	K562	blood
49	chr12:57620200-57621200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:57620200-57621200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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