Variant report

Variant	rs504596
Chromosome Location	chr5:177974127-177974128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2546623	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs474772	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs564487	0.86[CHD][hapmap]
rs642624	0.90[JPT][hapmap]

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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv883215	chr5:177961860-177980792	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3412530	chr5:177973571-177976119	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs504596	NSD1	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177968600-177979400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:177968800-177974600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:177970200-177974200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:177970200-177974800	Enhancers	Fetal Heart	heart
5	chr5:177971200-177974600	Enhancers	Right Ventricle	heart
6	chr5:177972400-177974600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:177972600-177974400	Enhancers	Right Atrium	heart
8	chr5:177972800-177975200	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:177973000-177975200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:177973400-177974200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:177973400-177974600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:177973400-177975600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:177973600-177974200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:177973600-177974400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:177973600-177974600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:177973800-177974200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:177973800-177974400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:177973800-177974400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:177973800-177974400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:177973800-177974400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:177973800-177974400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr5:177973800-177974600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:177973800-177975800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:177974000-177974200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:177974000-177974400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:177974000-177974400	Enhancers	Fetal Stomach	stomach
27	chr5:177974000-177974600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:177974000-177974800	Weak transcription	Left Ventricle	heart

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