Variant report

Variant	rs28685850
Chromosome Location	chr4:7335493-7335494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10003877	0.83[ASN][1000 genomes]
rs10027021	0.83[ASN][1000 genomes]
rs11726557	0.82[ASN][1000 genomes]
rs13109531	0.82[ASN][1000 genomes]
rs13109768	0.80[ASN][1000 genomes]
rs28624865	0.80[ASN][1000 genomes]
rs28671212	0.81[ASN][1000 genomes]
rs4689710	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv432556	chr4:7174993-7391948	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv878541	chr4:7211197-7341243	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv878543	chr4:7282506-7353052	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv878544	chr4:7285356-7359966	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv878545	chr4:7285356-7363007	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878546	chr4:7285356-7376694	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv878547	chr4:7289113-7376694	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
10	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
11	nsv878549	chr4:7295154-7376694	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
12	nsv878550	chr4:7297506-7363952	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv878551	chr4:7297506-7376694	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
15	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1003679	chr4:7319111-7449262	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv878552	chr4:7321511-7341243	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv878553	chr4:7321511-7376694	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv878554	chr4:7323450-7338852	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv878555	chr4:7325002-7338619	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv878556	chr4:7325002-7339378	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv878557	chr4:7325002-7348593	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv878558	chr4:7329426-7363952	Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7324400-7335600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:7329200-7337000	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:7331200-7337200	Weak transcription	Right Ventricle	heart
4	chr4:7331400-7335600	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:7331400-7337400	Weak transcription	Left Ventricle	heart
6	chr4:7332000-7336600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:7332200-7336400	Weak transcription	Brain Anterior Caudate	brain
8	chr4:7333000-7336000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:7333000-7336000	Enhancers	NH-A	brain
10	chr4:7333600-7339200	Enhancers	Ovary	ovary
11	chr4:7333800-7335800	Enhancers	Fetal Lung	lung
12	chr4:7333800-7338400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr4:7334000-7335600	Enhancers	Stomach Smooth Muscle	stomach
14	chr4:7334000-7336000	Enhancers	Colonic Mucosa	Colon
15	chr4:7334000-7337000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:7334000-7337400	Weak transcription	HMEC	breast
17	chr4:7334200-7335600	Enhancers	Fetal Intestine Small	intestine
18	chr4:7334400-7338800	Enhancers	Fetal Stomach	stomach
19	chr4:7334600-7337000	Weak transcription	Fetal Intestine Large	intestine
20	chr4:7334600-7337200	Weak transcription	Brain Angular Gyrus	brain
21	chr4:7334600-7337200	Weak transcription	A549	lung
22	chr4:7334600-7337200	Weak transcription	HSMMtube	muscle
23	chr4:7334800-7335600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:7334800-7335600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:7334800-7335600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr4:7334800-7336800	Weak transcription	Brain Substantia Nigra	brain
27	chr4:7334800-7338000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:7335000-7336200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:7335000-7337000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:7335000-7337000	Weak transcription	HSMM	muscle
31	chr4:7335000-7339600	Weak transcription	Spleen	Spleen
32	chr4:7335200-7336200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:7335200-7336400	Weak transcription	Esophagus	oesophagus
34	chr4:7335200-7336400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:7335200-7337000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr4:7335200-7338200	Enhancers	Fetal Muscle Leg	muscle
37	chr4:7335400-7335600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:7335400-7335600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:7335400-7335600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr4:7335400-7336000	Enhancers	Cortex derived primary cultured neurospheres	brain

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