Variant report

Variant	rs61980684
Chromosome Location	chr14:70015073-70015074
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70013357..70015397-chr14:70020516..70022458,2	K562	blood:
2	chr14:70014454..70015116-chr14:70193405..70194292,6	K562	blood:
3	chr14:70009624..70012138-chr14:70013181..70015316,2	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17764280	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17836244	0.85[AMR][1000 genomes]
rs1957369	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4899303	0.95[ASN][1000 genomes]
rs4899304	0.95[ASN][1000 genomes]
rs4902728	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55727771	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55817110	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55923041	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56249045	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56791796	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57769796	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60974342	0.85[AMR][1000 genomes]
rs61980683	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61980693	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980724	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61982429	0.87[AMR][1000 genomes]
rs61982435	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61982438	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61982440	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573892	0.88[ASN][1000 genomes]
rs7141009	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7151003	0.85[AMR][1000 genomes]
rs873176	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510642	chr14:69983293-70030335	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv564968	chr14:70000399-70021562	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv564969	chr14:70000399-70022351	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv564970	chr14:70000399-70040161	Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv94	chr14:70002365-70030415	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1334	chr14:70002365-70032641	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1036936	chr14:70004606-70022932	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv564971	chr14:70007215-70022404	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1037575	chr14:70012381-70022455	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv1049396	chr14:70012572-70022714	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv1045630	chr14:70012572-70022932	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv564972	chr14:70013328-70022351	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
13	nsv564973	chr14:70013328-70022404	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
14	esv2760340	chr14:70013752-70032826	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70014000-70015400	Active TSS	Fetal Brain Female	brain
2	chr14:70014200-70015200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:70014200-70015200	Active TSS	Brain Germinal Matrix	brain
4	chr14:70014400-70015200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:70014400-70015200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:70014400-70015200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:70014400-70015400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:70014400-70015400	Bivalent Enhancer	Placenta	Placenta
9	chr14:70014600-70015200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr14:70014800-70015200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr14:70014800-70015200	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr14:70014800-70015200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr14:70014800-70015200	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr14:70014800-70017800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:70015000-70015200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:70015000-70015200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:70015000-70015200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:70015000-70015200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:70015000-70015200	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr14:70015000-70015400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:70015000-70015400	Bivalent Enhancer	Fetal Stomach	stomach
22	chr14:70015000-70015600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:70015000-70016000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:70015000-70016000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:70015000-70016800	Weak transcription	Fetal Brain Male	brain
26	chr14:70015000-70018200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:70015000-70018200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:70015000-70018400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:70015000-70018800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:70015000-70026200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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