Variant report

Variant	rs72705748
Chromosome Location	chr4:186762599-186762600
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10015539	0.97[ASN][1000 genomes]
rs12508389	0.80[ASN][1000 genomes]
rs1499015	0.82[ASN][1000 genomes]
rs3796645	0.90[ASN][1000 genomes]
rs72705755	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7673810	0.90[ASN][1000 genomes]
rs7694456	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186756000-186763000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr4:186757400-186762600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:186757800-186762600	Enhancers	Colon Smooth Muscle	Colon
4	chr4:186759200-186762800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:186759200-186762800	Enhancers	Pancreas	Pancrea
6	chr4:186759200-186762800	Enhancers	Right Ventricle	heart
7	chr4:186759200-186762800	Enhancers	NHLF	lung
8	chr4:186759600-186762800	Enhancers	HSMM	muscle
9	chr4:186760200-186762600	Enhancers	HSMMtube	muscle
10	chr4:186760200-186767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:186760400-186762600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:186761200-186762800	Enhancers	NHDF-Ad	bronchial
13	chr4:186761200-186763600	Weak transcription	Spleen	Spleen
14	chr4:186761200-186778400	Weak transcription	Aorta	Aorta
15	chr4:186761400-186762600	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:186761400-186763600	Enhancers	Fetal Heart	heart
17	chr4:186761400-186764200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:186761400-186765600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:186761800-186765000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:186762000-186762600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:186762000-186764000	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:186762200-186762600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr4:186762200-186763200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:186762400-186763600	Weak transcription	Osteobl	bone
25	chr4:186762400-186764200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:186762400-186765200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:186762400-186765200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:186762400-186765400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:186762400-186765400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:186762400-186767800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:186762400-186767800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:186762400-186767800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:186762400-186768200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:186762400-186768600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:186762400-186768600	Weak transcription	Left Ventricle	heart

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