Variant report

Variant	rs56075945
Chromosome Location	chr4:8092055-8092056
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11722016	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11728138	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2292739	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73216495	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:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv878581	chr4:8021592-8100272	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv878585	chr4:8023484-8116202	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv878586	chr4:8023484-8148159	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv461214	chr4:8085174-8119937	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv593625	chr4:8085174-8119937	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv461215	chr4:8089598-8118561	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8073200-8099400	Weak transcription	Psoas Muscle	Psoas
2	chr4:8078600-8095800	Weak transcription	Aorta	Aorta
3	chr4:8081600-8114400	Weak transcription	Gastric	stomach
4	chr4:8082400-8102600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:8082400-8102800	Weak transcription	Right Atrium	heart
6	chr4:8083400-8097400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:8084000-8104400	Weak transcription	Pancreas	Pancrea
8	chr4:8085800-8112000	Weak transcription	Brain Angular Gyrus	brain
9	chr4:8090200-8092600	Enhancers	HMEC	breast
10	chr4:8090400-8092600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:8090400-8100600	Weak transcription	Left Ventricle	heart
12	chr4:8090600-8092200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:8090800-8092600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:8091000-8092400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:8091000-8093000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr4:8091600-8092200	Enhancers	Colonic Mucosa	Colon
17	chr4:8091600-8092200	Enhancers	Esophagus	oesophagus
18	chr4:8091600-8092600	Enhancers	NHEK	skin
19	chr4:8091600-8092800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:8091600-8092800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr4:8091600-8092800	Enhancers	HUVEC	blood vessel
22	chr4:8091600-8093000	Enhancers	Adipose Nuclei	Adipose
23	chr4:8091600-8093000	Enhancers	Duodenum Mucosa	Duodenum
24	chr4:8091800-8092400	Enhancers	NH-A	brain
25	chr4:8091800-8092600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:8091800-8093000	Enhancers	Spleen	Spleen
27	chr4:8092000-8092400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr4:8092000-8092800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:8092000-8092800	Enhancers	Hela-S3	cervix
30	chr4:8092000-8096000	Weak transcription	Lung	lung
31	chr4:8092000-8100400	Weak transcription	Right Ventricle	heart

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