Variant report

Variant	rs28716804
Chromosome Location	chr4:54377200-54377201
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54375519..54377286-chr4:54400053..54402800,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12645694	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4864773	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56331163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60708527	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60814046	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv21302	chr4:54375399-54378966	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54343000-54385600	Weak transcription	Fetal Brain Female	brain
2	chr4:54347600-54401800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:54355200-54378600	Weak transcription	Fetal Brain Male	brain
4	chr4:54363200-54384200	Weak transcription	Esophagus	oesophagus
5	chr4:54363800-54384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:54366600-54384200	Weak transcription	Pancreas	Pancrea
7	chr4:54372800-54388400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:54374400-54399000	Weak transcription	Fetal Intestine Large	intestine
9	chr4:54374400-54421000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:54374600-54377800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:54374800-54377600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:54374800-54393600	Weak transcription	Placenta	Placenta
13	chr4:54375000-54378000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:54375000-54393600	Weak transcription	Gastric	stomach
15	chr4:54375000-54398800	Weak transcription	Fetal Intestine Small	intestine
16	chr4:54375400-54377200	Weak transcription	Stomach Mucosa	stomach
17	chr4:54375800-54377600	Enhancers	Right Atrium	heart
18	chr4:54376200-54377600	Enhancers	NHDF-Ad	bronchial
19	chr4:54376200-54378200	Enhancers	HSMMtube	muscle
20	chr4:54376400-54377200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:54376400-54377600	Enhancers	Aorta	Aorta
22	chr4:54376600-54377600	Enhancers	Fetal Muscle Leg	muscle
23	chr4:54376800-54377400	Enhancers	Psoas Muscle	Psoas
24	chr4:54376800-54377600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:54376800-54377600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:54376800-54377600	Enhancers	HSMM	muscle
27	chr4:54377200-54377400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:54377200-54377400	Enhancers	Stomach Mucosa	stomach
29	chr4:54377200-54377600	Enhancers	Fetal Stomach	stomach

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