Variant report

Variant	rs7693888
Chromosome Location	chr4:8343412-8343413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6858506	1.00[AMR][1000 genomes]
rs73799125	0.88[AFR][1000 genomes]
rs73799139	1.00[AMR][1000 genomes]
rs73799141	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73799143	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv878605	chr4:8332057-8378959	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr4:8337400-8344400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:8338200-8344800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:8341800-8343800	Enhancers	Adipose Nuclei	Adipose
4	chr4:8341800-8346000	Enhancers	Fetal Muscle Trunk	muscle
5	chr4:8341800-8346000	Enhancers	Fetal Stomach	stomach
6	chr4:8341800-8346400	Enhancers	Ovary	ovary
7	chr4:8342000-8345800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:8342000-8346400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr4:8342000-8348800	Enhancers	Fetal Muscle Leg	muscle
10	chr4:8342200-8343600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:8342200-8343600	Enhancers	Fetal Heart	heart
12	chr4:8342200-8343800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:8342200-8344200	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:8342200-8344200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr4:8342200-8344600	Enhancers	Brain Anterior Caudate	brain
16	chr4:8342200-8344600	Enhancers	Brain Hippocampus Middle	brain
17	chr4:8342200-8344600	Enhancers	Brain Substantia Nigra	brain
18	chr4:8342200-8345600	Enhancers	Colon Smooth Muscle	Colon
19	chr4:8342400-8343800	Enhancers	Brain Angular Gyrus	brain
20	chr4:8342400-8343800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:8342400-8343800	Enhancers	Fetal Lung	lung
22	chr4:8342400-8343800	Enhancers	Psoas Muscle	Psoas
23	chr4:8342400-8343800	Enhancers	HMEC	breast
24	chr4:8342400-8344000	Enhancers	Rectal Smooth Muscle	rectum
25	chr4:8342400-8344600	Enhancers	Left Ventricle	heart
26	chr4:8342400-8344800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:8342400-8345000	Enhancers	Right Atrium	heart
28	chr4:8342600-8343600	Enhancers	HepG2	liver
29	chr4:8342600-8344400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:8342800-8344200	Enhancers	Stomach Smooth Muscle	stomach
31	chr4:8342800-8344400	Weak transcription	Fetal Intestine Small	intestine
32	chr4:8342800-8348800	Weak transcription	Spleen	Spleen
33	chr4:8342800-8352800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:8343000-8345000	Weak transcription	HSMM	muscle
35	chr4:8343200-8343800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr4:8343200-8343800	Enhancers	Fetal Kidney	kidney
37	chr4:8343200-8343800	Enhancers	Right Ventricle	heart
38	chr4:8343400-8343600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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