Variant report

Variant	rs62158269
Chromosome Location	chr2:98614361-98614362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:98614134-98614522	HepG2	liver:	n/a	n/a
2	MAFF	chr2:98614232-98614590	HepG2	liver:	n/a	n/a
3	MAFK	chr2:98614244-98614535	HepG2	liver:	n/a	n/a
4	CHD2	chr2:98614248-98614511	HepG2	liver:	n/a	n/a
5	MAX	chr2:98614333-98614520	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:98471834..98474112-chr2:98613392..98615848,2	MCF-7	breast:
2	chr2:98614289..98616084-chr2:98616141..98617811,2	MCF-7	breast:
3	chr2:98612119..98614854-chr2:98702248..98705786,3	K562	blood:
4	chr2:98611036..98613486-chr2:98613539..98615734,3	MCF-7	breast:
5	chr2:98370843..98373809-chr2:98614245..98616130,2	K562	blood:
6	chr2:98610350..98614892-chr2:98700211..98704879,10	MCF-7	breast:
7	chr2:98428768..98431337-chr2:98613628..98615730,2	K562	blood:

No data

Variant related genes	Relation type
TMEM131	TF binding region
ENSG00000075568	Chromatin interaction
ENSG00000168658	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs28641817	1.00[ASN][1000 genomes]
rs55853292	0.83[EUR][1000 genomes]
rs58690282	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59049638	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59444417	0.83[EUR][1000 genomes]
rs59635122	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59752876	0.86[EUR][1000 genomes]
rs62156488	0.83[EUR][1000 genomes]
rs62156507	0.80[EUR][1000 genomes]
rs62156508	0.83[EUR][1000 genomes]
rs62156509	0.83[EUR][1000 genomes]
rs62156519	0.84[EUR][1000 genomes]
rs62156522	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62156523	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62156524	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62156525	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62156526	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62156527	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62156530	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62158265	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62158266	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62158268	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62158270	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62158272	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6740424	0.85[ASN][1000 genomes]
rs73960433	0.84[EUR][1000 genomes]
rs73960435	0.86[EUR][1000 genomes]
rs7600204	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98613200-98614400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:98613200-98614600	Enhancers	Placenta	Placenta
3	chr2:98613200-98614600	Enhancers	HMEC	breast
4	chr2:98613200-98614800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:98613200-98615000	Enhancers	NHEK	skin
6	chr2:98613200-98615400	Enhancers	Fetal Muscle Leg	muscle
7	chr2:98613200-98616000	Weak transcription	Fetal Kidney	kidney
8	chr2:98613400-98616000	Weak transcription	K562	blood
9	chr2:98613600-98614400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:98613600-98614400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:98613600-98614400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:98613600-98614600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:98613600-98614600	Weak transcription	Fetal Thymus	thymus
14	chr2:98613600-98626000	Weak transcription	Primary B cells from cord blood	blood
15	chr2:98613600-98626800	Weak transcription	Spleen	Spleen
16	chr2:98613800-98614400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:98613800-98615800	Weak transcription	GM12878-XiMat	blood
18	chr2:98613800-98636200	Weak transcription	Stomach Mucosa	stomach
19	chr2:98614200-98614400	Flanking Active TSS	HepG2	liver
20	chr2:98614200-98614600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:98614200-98614800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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