Variant report

Variant	rs1882033
Chromosome Location	chr12:67819376-67819377
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	BHLHE40	chr12:67819324-67819437	HepG2	liver:	n/a	n/a
2	FOXA1	chr12:67819228-67819509	HepG2	liver:	n/a	n/a
3	FOXA1	chr12:67819167-67819525	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67817887..67819484-chr12:68041925..68044045,2	MCF-7	breast:

Variant related genes	Relation type
NTAN1P3	TF binding region
ENSG00000127334	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10506549	0.91[JPT][hapmap]
rs10878616	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs11176739	0.91[JPT][hapmap]
rs12828359	0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1882280	0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1882283	0.80[ASN][1000 genomes]
rs1920430	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2870937	0.91[JPT][hapmap];0.83[MEX][hapmap]
rs35583684	0.80[ASN][1000 genomes]
rs4913247	0.91[JPT][hapmap]
rs4913248	0.91[JPT][hapmap]
rs4913249	0.91[JPT][hapmap]
rs4913323	0.91[JPT][hapmap]
rs4913324	0.91[JPT][hapmap]
rs7132301	0.91[JPT][hapmap]
rs7958866	0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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 target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67809200-67819800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:67809200-67824000	Weak transcription	Psoas Muscle	Psoas
3	chr12:67810000-67819600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:67810200-67819800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:67810600-67819600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:67810600-67819800	Weak transcription	HSMMtube	muscle
7	chr12:67814400-67819600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:67814400-67819800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:67814600-67819600	Weak transcription	Fetal Kidney	kidney
10	chr12:67814600-67819600	Weak transcription	Pancreas	Pancrea
11	chr12:67814600-67819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:67814600-67819800	Weak transcription	Fetal Lung	lung
13	chr12:67814800-67819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:67817800-67830600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:67818600-67819400	Enhancers	NHEK	skin
16	chr12:67818600-67820000	Enhancers	HMEC	breast
17	chr12:67818600-67821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:67818600-67821000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:67818600-67822400	Enhancers	Stomach Mucosa	stomach
20	chr12:67818600-67823000	Enhancers	Duodenum Mucosa	Duodenum
21	chr12:67818600-67827000	Enhancers	Fetal Intestine Small	intestine
22	chr12:67818600-67832000	Enhancers	Fetal Intestine Large	intestine
23	chr12:67818800-67819400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:67818800-67819800	Weak transcription	Fetal Stomach	stomach
25	chr12:67818800-67820200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr12:67818800-67820600	Enhancers	NHDF-Ad	bronchial
27	chr12:67818800-67821200	Weak transcription	Colonic Mucosa	Colon
28	chr12:67818800-67823000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:67819000-67819400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:67819000-67820200	Weak transcription	Small Intestine	intestine
31	chr12:67819000-67821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:67819000-67821400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:67819000-67821800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:67819200-67819600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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