Variant report

Variant	rs10007397
Chromosome Location	chr4:54439574-54439575
allele	A/C
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	chr4:54439320-54439655	IMR90	lung:	n/a	chr4:54439489-54439500
2	CEBPB	chr4:54439311-54439650	HepG2	liver:	n/a	chr4:54439489-54439500
3	CEBPB	chr4:54439342-54439603	K562	blood:	n/a	chr4:54439489-54439500
4	CEBPB	chr4:54439412-54439626	A549	lung:	n/a	chr4:54439489-54439500

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54439397..54441582-chr4:54451989..54453798,2	K562	blood:

Variant related genes	Relation type
ENSG00000173966	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10031491	0.88[AFR][1000 genomes]
rs17083038	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57991612	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9654328	0.87[AFR][1000 genomes];1.00[AMR][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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54412200-54442400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:54425200-54457400	Weak transcription	Right Atrium	heart
3	chr4:54430800-54441600	Weak transcription	Stomach Mucosa	stomach
4	chr4:54431200-54456600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:54431600-54440200	Weak transcription	Right Ventricle	heart
6	chr4:54437000-54439800	Strong transcription	Pancreas	Pancrea
7	chr4:54437000-54440000	Strong transcription	Fetal Intestine Large	intestine
8	chr4:54437400-54440000	Strong transcription	Gastric	stomach
9	chr4:54437600-54440400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr4:54437600-54440400	Strong transcription	Placenta	Placenta
11	chr4:54437600-54440400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr4:54437600-54440400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr4:54437800-54439600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:54437800-54439800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:54437800-54440200	Strong transcription	Fetal Intestine Small	intestine
16	chr4:54437800-54442200	Weak transcription	Fetal Stomach	stomach
17	chr4:54438600-54441600	Weak transcription	Esophagus	oesophagus
18	chr4:54438600-54442400	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:54438600-54452800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:54438800-54441000	Enhancers	HUVEC	blood vessel
21	chr4:54439000-54447600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:54439000-54454800	Weak transcription	Left Ventricle	heart
23	chr4:54439200-54440200	Strong transcription	Liver	Liver
24	chr4:54439200-54440400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:54439200-54443400	Weak transcription	Colonic Mucosa	Colon
26	chr4:54439200-54454600	Weak transcription	Aorta	Aorta
27	chr4:54439400-54441600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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