Variant report

Variant	rs2228344
Chromosome Location	chr1:95367773-95367774
allele	C/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	CEBPB	chr1:95367418-95367784	K562	blood:	n/a	chr1:95367612-95367623
2	CEBPB	chr1:95367478-95367791	IMR90	lung:	n/a	chr1:95367612-95367623
3	JUND	chr1:95367457-95367777	K562	blood:	n/a	n/a
4	CEBPB	chr1:95367340-95367942	HCT-116	colon:	n/a	chr1:95367612-95367623
5	CEBPB	chr1:95367465-95367791	K562	blood:	n/a	chr1:95367612-95367623
6	KAP1	chr1:95367320-95367826	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
CNN3	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs3860360	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6661181	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9432404	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9432407	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9432408	0.87[EUR][1000 genomes]
rs9432612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9432615	0.89[EUR][1000 genomes]
rs9432616	0.89[EUR][1000 genomes]

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95329000-95385000	Weak transcription	Colonic Mucosa	Colon
2	chr1:95333200-95370000	Weak transcription	Small Intestine	intestine
3	chr1:95350400-95368800	Weak transcription	Spleen	Spleen
4	chr1:95350400-95378200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:95353400-95373600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:95353800-95373600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:95354600-95367800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:95355000-95375200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:95355200-95373000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:95356000-95370200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:95356000-95370800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr1:95356200-95375000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:95356800-95369000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr1:95356800-95371400	Strong transcription	Liver	Liver
15	chr1:95357800-95369000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:95357800-95390800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:95358400-95369200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:95358800-95370600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:95359400-95370000	Weak transcription	Pancreas	Pancrea
20	chr1:95359600-95368800	Strong transcription	Left Ventricle	heart
21	chr1:95359800-95367800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:95359800-95368600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:95359800-95369000	Strong transcription	NHDF-Ad	bronchial
24	chr1:95359800-95369200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:95359800-95369200	Strong transcription	HUVEC	blood vessel
26	chr1:95359800-95369600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:95360000-95368400	Strong transcription	Placenta	Placenta
28	chr1:95360200-95370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:95360200-95373800	Weak transcription	Fetal Intestine Small	intestine
30	chr1:95360200-95375000	Weak transcription	Psoas Muscle	Psoas
31	chr1:95360400-95369200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:95360400-95378400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:95360600-95369000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:95360800-95368800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:95360800-95368800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:95360800-95369800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:95360800-95371200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:95360800-95373600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:95361000-95369000	Strong transcription	Adipose Nuclei	Adipose
40	chr1:95361000-95369200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr1:95361000-95369200	Strong transcription	Fetal Lung	lung
42	chr1:95361000-95369600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:95361000-95369600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:95361000-95370800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:95361000-95371000	Strong transcription	HepG2	liver
46	chr1:95361200-95367800	Strong transcription	Brain Anterior Caudate	brain
47	chr1:95361200-95369200	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr1:95361400-95379600	Weak transcription	Esophagus	oesophagus
49	chr1:95363400-95372400	Genic enhancers	HSMM	muscle
50	chr1:95363600-95370000	Weak transcription	Aorta	Aorta

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