Variant report

Variant	rs59511315
Chromosome Location	chr6:35476362-35476363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr6:35476341-35476615	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35474441..35476713-chr6:35477709..35479563,2	K562	blood:
2	chr6:35474347..35477035-chr6:35697866..35700088,2	K562	blood:

Variant related genes	Relation type
TULP1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4713874	0.81[EUR][1000 genomes]
rs56977771	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59224698	0.94[ASN][1000 genomes]
rs59736270	0.87[EUR][1000 genomes]
rs61519220	0.88[AFR][1000 genomes]
rs73415628	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
2	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases
3	nsv462909	chr6:35457396-35502202	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	nsv602912	chr6:35457396-35502202	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
5	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv2761067	chr6:35471246-35573245	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr6:35466400-35476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:35466400-35479200	Weak transcription	Right Ventricle	heart
3	chr6:35466800-35477000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:35466800-35479400	Weak transcription	Right Atrium	heart
5	chr6:35467400-35478600	Weak transcription	Fetal Lung	lung
6	chr6:35473400-35479400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:35473600-35477000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:35474000-35476800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:35474200-35476600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:35474400-35478600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:35474400-35478800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:35474600-35476400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr6:35474800-35476800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:35475400-35477000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:35475600-35477000	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr6:35476000-35477400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:35476000-35477400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:35476000-35478000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:35476200-35476400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
20	chr6:35476200-35477000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:35476200-35478000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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