Variant report

Variant	rs72678346
Chromosome Location	chr4:121738611-121738612
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	TCF7L2	chr4:121738488-121738754	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PRDM5	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17348167	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17350290	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415097	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55841702	0.85[AMR][1000 genomes]
rs56311699	0.85[AMR][1000 genomes]
rs6827910	1.00[AFR][1000 genomes]
rs72680423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680456	0.82[ASN][1000 genomes]
rs7673521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
7	nsv879855	chr4:121691899-121747335	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv879857	chr4:121697932-121747335	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv879858	chr4:121703336-121747335	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121723600-121743000	Weak transcription	Fetal Heart	heart
2	chr4:121726400-121743400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:121727200-121739000	Weak transcription	Gastric	stomach
4	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:121730200-121744800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:121730200-121753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:121730400-121745800	Weak transcription	Fetal Stomach	stomach
8	chr4:121730400-121746600	Weak transcription	Fetal Intestine Large	intestine
9	chr4:121730400-121760000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:121730400-121760800	Weak transcription	Pancreas	Pancrea
11	chr4:121731200-121752400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:121731400-121742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:121731600-121739800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:121731600-121743200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:121731800-121743200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:121731800-121743200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:121731800-121746200	Weak transcription	Fetal Intestine Small	intestine
18	chr4:121732000-121743400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:121732000-121746200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:121732000-121747600	Weak transcription	Fetal Lung	lung
21	chr4:121732200-121754800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:121733400-121744800	Weak transcription	Right Ventricle	heart
23	chr4:121737400-121751400	Weak transcription	Psoas Muscle	Psoas
24	chr4:121737600-121759800	Weak transcription	Lung	lung
25	chr4:121737800-121740200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr4:121737800-121754400	Weak transcription	Aorta	Aorta
27	chr4:121738000-121741800	Weak transcription	Left Ventricle	heart
28	chr4:121738200-121738800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr4:121738200-121744800	Weak transcription	Ovary	ovary
30	chr4:121738200-121759600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:121738400-121743200	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:121738600-121738800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:121738600-121738800	Flanking Active TSS	NHDF-Ad	bronchial

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