Variant report

Variant	rs1259633
Chromosome Location	chr12:31926377-31926378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31901857..31902801-chr12:31926002..31926958,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12425123	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426434	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12426911	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1259758	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1272268	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv1050448	chr12:31877289-31927006	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv8940	chr12:31899904-31987363	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31921400-31926400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:31925000-31927800	Enhancers	HepG2	liver
3	chr12:31925200-31927000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:31925400-31926400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:31925400-31926400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:31925400-31926600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:31925400-31926600	Enhancers	Gastric	stomach
8	chr12:31925400-31927200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:31925400-31927200	Enhancers	Pancreas	Pancrea
10	chr12:31925400-31927200	Enhancers	Stomach Mucosa	stomach
11	chr12:31925400-31927400	Enhancers	A549	lung
12	chr12:31925600-31926400	Enhancers	Fetal Intestine Small	intestine
13	chr12:31925600-31927200	Enhancers	Fetal Intestine Large	intestine
14	chr12:31925800-31926400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:31925800-31926600	Flanking Active TSS	Liver	Liver
16	chr12:31925800-31926800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:31925800-31927000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:31925800-31927000	Enhancers	Lung	lung
19	chr12:31925800-31927200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:31925800-31927200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:31925800-31927200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:31925800-31927200	Enhancers	Esophagus	oesophagus
23	chr12:31925800-31927200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr12:31925800-31927200	Enhancers	Fetal Muscle Leg	muscle
25	chr12:31925800-31927200	Enhancers	Placenta	Placenta
26	chr12:31925800-31927200	Enhancers	Fetal Thymus	thymus
27	chr12:31925800-31927200	Enhancers	Hela-S3	cervix
28	chr12:31925800-31927400	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:31925800-31927400	Enhancers	GM12878-XiMat	blood
30	chr12:31926000-31927200	Enhancers	Fetal Heart	heart
31	chr12:31926200-31926600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:31926200-31926600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:31926200-31926600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:31926200-31926600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:31926200-31926600	Enhancers	Adipose Nuclei	Adipose
36	chr12:31926200-31927000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:31926200-31927000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:31926200-31927200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr12:31926200-31927200	Enhancers	Primary T cells from cord blood	blood
40	chr12:31926200-31927200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr12:31926200-31927200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:31926200-31927200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr12:31926200-31927200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:31926200-31927200	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:31926200-31927200	Enhancers	Ovary	ovary
46	chr12:31926200-31927200	Enhancers	Spleen	Spleen

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