Variant report

Variant	rs2268449
Chromosome Location	chr6:144282703-144282704
allele	G/T
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	MAFK	chr6:144282677-144282824	H1-hESC	embryonic stem cell:	n/a	chr6:144282718-144282728

Variant related genes	Relation type
PLAGL1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11751745	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11756447	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11756507	1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11758403	1.00[EUR][1000 genomes]
rs11759546	1.00[EUR][1000 genomes]
rs2268446	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57276127	1.00[EUR][1000 genomes]
rs57728555	0.86[ASN][1000 genomes]
rs57970734	0.86[ASN][1000 genomes]
rs59148328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59834373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61246147	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61313540	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144256600-144284400	Weak transcription	Aorta	Aorta
2	chr6:144258400-144288000	Weak transcription	Primary T cells from cord blood	blood
3	chr6:144261600-144285800	Weak transcription	Small Intestine	intestine
4	chr6:144261600-144287000	Weak transcription	GM12878-XiMat	blood
5	chr6:144269000-144284400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:144269200-144290200	Weak transcription	Fetal Thymus	thymus
7	chr6:144269400-144287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:144269400-144289600	Weak transcription	Pancreas	Pancrea
9	chr6:144269600-144284800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:144269600-144294000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:144269800-144283000	Weak transcription	Left Ventricle	heart
12	chr6:144269800-144285200	Weak transcription	Spleen	Spleen
13	chr6:144269800-144286000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:144269800-144286400	Weak transcription	Right Ventricle	heart
15	chr6:144269800-144286600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:144269800-144289800	Weak transcription	Ovary	ovary
17	chr6:144269800-144296000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:144269800-144304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:144270400-144284600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:144270400-144284600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:144271400-144296800	Weak transcription	Primary B cells from cord blood	blood
22	chr6:144271600-144284400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:144272800-144284200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:144273000-144283800	Weak transcription	Fetal Intestine Small	intestine
25	chr6:144274400-144289800	Weak transcription	Esophagus	oesophagus
26	chr6:144275000-144293000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:144275400-144284200	Weak transcription	Right Atrium	heart
28	chr6:144276600-144287000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:144277200-144283200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:144277200-144291200	Genic enhancers	Fetal Muscle Leg	muscle
31	chr6:144277600-144287000	Weak transcription	HMEC	breast
32	chr6:144278000-144283000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:144278800-144283400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:144278800-144286600	Weak transcription	NHDF-Ad	bronchial
35	chr6:144280200-144282800	Weak transcription	Fetal Kidney	kidney
36	chr6:144280200-144290400	Weak transcription	Fetal Heart	heart
37	chr6:144280400-144287200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr6:144280400-144287400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr6:144280400-144288200	Weak transcription	Gastric	stomach
40	chr6:144280400-144291400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:144280600-144283200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
42	chr6:144280600-144284000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr6:144280600-144284200	Weak transcription	Lung	lung
44	chr6:144280600-144286000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:144280600-144287800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr6:144280800-144287800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr6:144281000-144283000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr6:144281200-144283200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:144281200-144283800	Weak transcription	Placenta	Placenta
50	chr6:144281200-144285200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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