Variant report

Variant	rs4798478
Chromosome Location	chr18:6683465-6683466
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:5293641..5295878-chr18:6683464..6685082,2	K562	blood:
2	chr18:6676534..6678660-chr18:6681129..6684037,2	K562	blood:
3	chr18:6682078..6684757-chr18:6693347..6696063,3	K562	blood:
4	chr18:6683311..6686830-chr18:6687700..6692231,7	K562	blood:
5	chr18:6681278..6684009-chr18:6728547..6731673,3	K562	blood:
6	chr18:6683030..6685856-chr18:6737464..6739886,2	K562	blood:

Variant related genes	Relation type
ENSG00000266441	Chromatin interaction
ENSG00000088756	Chromatin interaction
ENSG00000198081	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12604284	0.85[EUR][1000 genomes]
rs12961988	0.85[EUR][1000 genomes]
rs12964207	0.81[EUR][1000 genomes]
rs1941483	0.92[EUR][1000 genomes]
rs35421357	0.85[EUR][1000 genomes]
rs35523650	0.85[EUR][1000 genomes]
rs4798475	0.82[AMR][1000 genomes]
rs4798477	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55994859	0.87[EUR][1000 genomes]
rs56033241	0.92[EUR][1000 genomes]
rs62081455	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6506424	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6506425	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6506426	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7230951	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7235305	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7235377	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7235980	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7238807	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7238970	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7239845	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8091010	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8093864	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059678	chr18:6155114-6838290	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1059833	chr18:6250388-6694867	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv543628	chr18:6250388-6694867	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv916883	chr18:6299209-7244642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1055148	chr18:6527292-6790869	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv543629	chr18:6527292-6790869	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3529901	chr18:6537233-6851509	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3529902	chr18:6537233-6851509	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1063762	chr18:6542534-7382339	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv543630	chr18:6542534-7382339	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv1057885	chr18:6598684-6754548	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv909332	chr18:6627063-6687257	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv909333	chr18:6646446-6720033	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv909334	chr18:6657899-6720033	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv1060757	chr18:6682974-7051982	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv543631	chr18:6682974-7051982	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6666400-6683800	Weak transcription	Right Atrium	heart
2	chr18:6682000-6684400	Flanking Active TSS	K562	blood
3	chr18:6682200-6688400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr18:6682400-6683600	Enhancers	Fetal Lung	lung
5	chr18:6682600-6684000	Active TSS	Stomach Smooth Muscle	stomach
6	chr18:6682600-6684200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:6683000-6688400	Weak transcription	Fetal Heart	heart
8	chr18:6683000-6688400	Weak transcription	HUVEC	blood vessel
9	chr18:6683200-6683600	Enhancers	Gastric	stomach
10	chr18:6683200-6684000	Bivalent Enhancer	Fetal Stomach	stomach
11	chr18:6683400-6683600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:6683400-6683800	Flanking Active TSS	Placenta	Placenta
13	chr18:6683400-6684800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links