Variant report

Variant	rs17083057
Chromosome Location	chr4:54440243-54440244
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	CTCF	chr4:54440180-54440330	HFF-Myc	foreskin:	n/a	n/a
2	JUND	chr4:54439916-54440376	K562	blood:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCFD2-5	chr4:54440224-54440255	NONHSAT096401

Variant related genes	Relation type
ENSG00000173966	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2590777	1.00[AMR][1000 genomes]
rs28452451	1.00[AMR][1000 genomes]
rs28525154	1.00[AMR][1000 genomes]
rs57511626	1.00[AMR][1000 genomes]
rs60129843	1.00[AMR][1000 genomes]
rs60576071	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:38 , 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	chr4:54437600-54440400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr4:54437600-54440400	Strong transcription	Placenta	Placenta
7	chr4:54437600-54440400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr4:54437600-54440400	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr4:54437800-54442200	Weak transcription	Fetal Stomach	stomach
10	chr4:54438600-54441600	Weak transcription	Esophagus	oesophagus
11	chr4:54438600-54442400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:54438600-54452800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:54438800-54441000	Enhancers	HUVEC	blood vessel
14	chr4:54439000-54447600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:54439000-54454800	Weak transcription	Left Ventricle	heart
16	chr4:54439200-54440400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:54439200-54443400	Weak transcription	Colonic Mucosa	Colon
18	chr4:54439200-54454600	Weak transcription	Aorta	Aorta
19	chr4:54439400-54441600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:54439600-54440400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:54439600-54440600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:54439800-54440400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:54439800-54440400	Enhancers	NH-A	brain
24	chr4:54440000-54440400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:54440000-54440400	Enhancers	HSMM	muscle
26	chr4:54440000-54442400	Weak transcription	Fetal Intestine Large	intestine
27	chr4:54440200-54440400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:54440200-54440400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:54440200-54440400	Enhancers	Right Ventricle	heart
30	chr4:54440200-54440400	Enhancers	Hela-S3	cervix
31	chr4:54440200-54440400	Enhancers	Osteobl	bone
32	chr4:54440200-54440600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:54440200-54440800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:54440200-54441600	Weak transcription	Fetal Intestine Small	intestine
35	chr4:54440200-54441800	Weak transcription	Gastric	stomach
36	chr4:54440200-54441800	Weak transcription	Pancreas	Pancrea
37	chr4:54440200-54442000	Weak transcription	Liver	Liver
38	chr4:54440200-54442000	Weak transcription	Lung	lung

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