Variant report

Variant	rs12725688
Chromosome Location	chr1:226133001-226133002
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	SPI1	chr1:226132581-226133087	GM12891	blood:	n/a	chr1:226132795-226132804 chr1:226132799-226132808
2	SPI1	chr1:226132310-226133182	GM12878	blood:	n/a	chr1:226132795-226132804 chr1:226132799-226132808
3	SPI1	chr1:226132568-226133011	GM12878	blood:	n/a	chr1:226132795-226132804 chr1:226132799-226132808
4	CTCF	chr1:226132920-226133070	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:226132398..226133993-chr1:226259835..226261737,2	K562	blood:
2	chr1:226131582..226134772-chr1:226137252..226139972,3	K562	blood:
3	chr1:226131824..226133632-chr1:226138472..226140922,2	K562	blood:
4	chr1:226080382..226082754-chr1:226132657..226134532,2	K562	blood:
5	chr1:226109266..226111565-chr1:226131902..226133596,2	K562	blood:
6	chr1:226107771..226111419-chr1:226132837..226135522,3	MCF-7	breast:
7	chr1:226131302..226133654-chr1:226147607..226150224,2	K562	blood:

Variant related genes	Relation type
LEFTY2	TF binding region
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12735124	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv468216	chr1:226078915-226135132	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	19 gene(s)	inside rSNPs	diseases
6	nsv549267	chr1:226078915-226135132	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	esv3385958	chr1:226117875-226149657	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226133400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:226129600-226134200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
4	chr1:226130800-226133200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:226130800-226133200	Weak transcription	Lung	lung
6	chr1:226131200-226133200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:226131400-226136400	Weak transcription	K562	blood
8	chr1:226131800-226134000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:226131800-226134400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:226131800-226135400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr1:226132000-226133200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:226132000-226133200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:226132000-226134000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr1:226132000-226134400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:226132000-226134800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:226132200-226133200	Enhancers	Fetal Thymus	thymus
17	chr1:226132200-226133200	Enhancers	GM12878-XiMat	blood
18	chr1:226132200-226133400	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:226132200-226133800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:226132200-226134000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:226132200-226134000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:226132200-226134200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:226132200-226134200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:226132200-226134400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:226132200-226135400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:226132400-226133200	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:226132400-226133400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr1:226132400-226135200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:226132600-226133200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:226132600-226133200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:226132800-226133200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:226132800-226133800	Bivalent Enhancer	HepG2	liver
33	chr1:226132800-226134200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:226133000-226133200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:226133000-226133400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:226133000-226134000	ZNF genes & repeats	Esophagus	oesophagus
37	chr1:226133000-226134000	Transcr. at gene 5' and 3'	Gastric	stomach
38	chr1:226133000-226134000	ZNF genes & repeats	Pancreas	Pancrea
39	chr1:226133000-226134200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:226133000-226134200	ZNF genes & repeats	Spleen	Spleen
41	chr1:226133000-226138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:226133000-226138400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:226133000-226138400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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