Variant report

Variant	rs74061307
Chromosome Location	chr12:1738648-1738649
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	GATA3	chr12:1738601-1739162	MCF-7	breast:	n/a	chr12:1738891-1738899 chr12:1738889-1738902
2	CTCF	chr12:1738560-1738710	Caco-2	colon:	n/a	chr12:1738587-1738605
3	BHLHE40	chr12:1738484-1738761	HepG2	liver:	n/a	n/a
4	CTCF	chr12:1738500-1738650	SK-N-SH_RA	brain:	n/a	chr12:1738587-1738605
5	CTCF	chr12:1738500-1738650	BE2_C	brain:	n/a	chr12:1738587-1738605
6	CTCF	chr12:1738587-1738650	GM12878	blood:	n/a	chr12:1738587-1738605
7	EBF1	chr12:1738463-1738823	GM12878	blood:	n/a	chr12:1738623-1738634 chr12:1738624-1738634 chr12:1738623-1738636 chr12:1738625-1738634 chr12:1738625-1738634
8	HDAC2	chr12:1738424-1738733	HepG2	liver:	n/a	n/a
9	TCF7L2	chr12:1738414-1739817	HCT-116	colon:	n/a	chr12:1739110-1739124 chr12:1739109-1739125 chr12:1739113-1739122 chr12:1739109-1739125 chr12:1738615-1738625 chr12:1738617-1738626
10	EP300	chr12:1737662-1740910	SK-N-SH	brain:	n/a	chr12:1740199-1740213 chr12:1739522-1739538 chr12:1739309-1739318
11	CTCF	chr12:1738540-1738690	AG04449	skin:	n/a	chr12:1738587-1738605
12	TCF7L2	chr12:1738476-1739233	HEK293	kidney:	n/a	chr12:1739110-1739124 chr12:1739109-1739125 chr12:1739113-1739122 chr12:1739109-1739125 chr12:1738615-1738625 chr12:1738617-1738626
13	GATA2	chr12:1737972-1739853	SH-SY5Y	brain:	n/a	chr12:1738891-1738899 chr12:1738889-1738902
14	EBF1	chr12:1738469-1738725	GM12878	blood:	n/a	chr12:1738623-1738634 chr12:1738624-1738634 chr12:1738623-1738636 chr12:1738625-1738634 chr12:1738625-1738634
15	EBF1	chr12:1738469-1738805	GM12878	blood:	n/a	chr12:1738623-1738634 chr12:1738624-1738634 chr12:1738623-1738636 chr12:1738625-1738634 chr12:1738625-1738634
16	ZNF263	chr12:1738511-1738929	HEK293-T-REx	kidney:	n/a	chr12:1738717-1738738 chr12:1738712-1738721 chr12:1738575-1738584
17	CTBP2	chr12:1738253-1739969	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:1738400-1738670	GM12871	blood:	n/a	chr12:1738587-1738605
19	MXI1	chr12:1737590-1740000	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
WNT5B	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12425600	1.00[EUR][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	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
6	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv898587	chr12:1732295-1756642	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv898588	chr12:1736314-1755960	Bivalent Enhancer Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv556994	chr12:1737309-1743843	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv898589	chr12:1738111-1755654	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1733000-1744000	Weak transcription	K562	blood
2	chr12:1737600-1738800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:1737600-1740600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:1737800-1738800	Enhancers	NHDF-Ad	bronchial
5	chr12:1737800-1739200	Enhancers	HSMMtube	muscle
6	chr12:1737800-1739800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr12:1737800-1740000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:1737800-1740400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr12:1737800-1740600	Enhancers	Spleen	Spleen
10	chr12:1737800-1740800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr12:1737800-1740800	Bivalent Enhancer	Fetal Lung	lung
12	chr12:1738000-1738800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:1738000-1738800	Bivalent Enhancer	Fetal Thymus	thymus
14	chr12:1738000-1739000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:1738000-1740000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:1738000-1740000	Enhancers	Fetal Brain Male	brain
17	chr12:1738000-1740000	Enhancers	Fetal Heart	heart
18	chr12:1738200-1738800	Enhancers	NHLF	lung
19	chr12:1738200-1739000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:1738200-1739000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:1738200-1739000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr12:1738200-1739000	Bivalent Enhancer	Placenta	Placenta
23	chr12:1738200-1739000	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr12:1738200-1739000	Enhancers	Osteobl	bone
25	chr12:1738200-1739400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:1738200-1739400	Enhancers	HSMM	muscle
27	chr12:1738200-1739600	Enhancers	Small Intestine	intestine
28	chr12:1738200-1740200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr12:1738200-1740400	Active TSS	Rectal Smooth Muscle	rectum
30	chr12:1738400-1738800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chr12:1738400-1738800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:1738400-1738800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr12:1738400-1738800	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:1738400-1738800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:1738400-1738800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:1738400-1738800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr12:1738400-1738800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr12:1738400-1738800	Enhancers	Psoas Muscle	Psoas
39	chr12:1738400-1738800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr12:1738400-1738800	Bivalent Enhancer	Dnd41	blood
41	chr12:1738400-1739000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:1738400-1739000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr12:1738400-1739000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr12:1738400-1739000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
45	chr12:1738400-1739000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr12:1738400-1739000	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr12:1738400-1739000	Active TSS	Fetal Kidney	kidney
48	chr12:1738400-1739000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr12:1738400-1739000	Enhancers	NH-A	brain
50	chr12:1738400-1739200	Flanking Active TSS	Colonic Mucosa	Colon

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