Variant report

Variant	rs2448044
Chromosome Location	chr12:12232913-12232914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7311889	0.89[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12225000-12255000	Weak transcription	Small Intestine	intestine
2	chr12:12225200-12239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:12225400-12239000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:12225400-12239600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:12225400-12239600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:12225600-12239000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:12225800-12240200	Weak transcription	Fetal Stomach	stomach
8	chr12:12226600-12245000	Weak transcription	Fetal Brain Male	brain
9	chr12:12226800-12235000	Weak transcription	Pancreas	Pancrea
10	chr12:12226800-12235200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:12226800-12238200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:12227000-12234200	Weak transcription	Stomach Mucosa	stomach
13	chr12:12227000-12234800	Weak transcription	Colonic Mucosa	Colon
14	chr12:12229600-12238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:12229800-12235200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:12230000-12238600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:12231000-12234800	Weak transcription	HepG2	liver
18	chr12:12231000-12235000	Weak transcription	HUVEC	blood vessel
19	chr12:12231000-12239200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:12231400-12238600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:12231400-12239200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:12231600-12239200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:12232000-12233000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:12232800-12233800	Weak transcription	Fetal Intestine Large	intestine
25	chr12:12232800-12234000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:12232800-12234000	Strong transcription	Fetal Intestine Small	intestine
27	chr12:12232800-12234000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:12232800-12234800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:12232800-12234800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:12232800-12234800	Weak transcription	A549	lung
31	chr12:12232800-12234800	Weak transcription	NHDF-Ad	bronchial
32	chr12:12232800-12234800	Weak transcription	Osteobl	bone
33	chr12:12232800-12235000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:12232800-12235000	Weak transcription	NHLF	lung
35	chr12:12232800-12240000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:12232800-12257000	Weak transcription	HSMMtube	muscle

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