Variant report

Variant	rs904996
Chromosome Location	chr4:7301282-7301283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10937801	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10937802	0.99[ASN][1000 genomes]
rs11721444	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11726598	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11729419	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11933152	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1532664	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1532665	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1532666	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1546267	0.84[ASN][1000 genomes]
rs16839963	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28543027	0.83[ASN][1000 genomes]
rs3846431	0.81[ASN][1000 genomes]
rs5021748	0.82[ASN][1000 genomes]
rs904995	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv829850	chr4:7112509-7314016	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv461201	chr4:7256620-7311399	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv593568	chr4:7256620-7311399	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv878548	chr4:7295154-7333152	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7293800-7304400	Weak transcription	Gastric	stomach
2	chr4:7296800-7301800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:7297000-7302000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:7297000-7302000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr4:7297600-7301600	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:7297600-7302600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:7297600-7303400	Enhancers	Brain Hippocampus Middle	brain
8	chr4:7297800-7301400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:7297800-7302600	Enhancers	Brain Substantia Nigra	brain
10	chr4:7297800-7304400	Enhancers	Brain Anterior Caudate	brain
11	chr4:7297800-7308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:7297800-7308800	Weak transcription	Right Atrium	heart
13	chr4:7298400-7302000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:7298600-7302800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:7298800-7303800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:7299400-7302200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:7300200-7301800	Enhancers	Brain Angular Gyrus	brain
18	chr4:7300400-7301600	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr4:7300600-7301600	Bivalent Enhancer	Fetal Brain Male	brain
20	chr4:7300800-7301600	Enhancers	Fetal Muscle Leg	muscle
21	chr4:7301000-7301400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr4:7301000-7301600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:7301000-7302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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