Variant report

Variant	rs10105355
Chromosome Location	chr8:124292074-124292075
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	POLR2A	chr8:124289757-124292402	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124286614..124288991-chr8:124291272..124295391,4	K562	blood:
2	chr8:124291683..124293792-chr8:124295777..124297657,2	K562	blood:
3	chr8:124283676..124286513-chr8:124291372..124294065,4	K562	blood:
4	chr8:124289689..124292455-chr8:124292492..124294861,2	MCF-7	breast:

Variant related genes	Relation type
ZHX1	TF binding region
ENSG00000165156	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10102371	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10956124	1.00[ASN][1000 genomes]
rs11774610	1.00[ASN][1000 genomes]
rs16898247	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28693459	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891717	1.00[ASN][1000 genomes]
rs3857956	1.00[ASN][1000 genomes]
rs4489325	1.00[ASN][1000 genomes]
rs57815619	1.00[ASN][1000 genomes]
rs59697406	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61288481	0.92[AFR][1000 genomes]
rs62520595	1.00[ASN][1000 genomes]
rs62520596	1.00[ASN][1000 genomes]
rs62520599	1.00[ASN][1000 genomes]
rs62520600	1.00[ASN][1000 genomes]
rs62520601	1.00[ASN][1000 genomes]
rs62521769	1.00[ASN][1000 genomes]
rs62521770	1.00[ASN][1000 genomes]
rs62521771	1.00[ASN][1000 genomes]
rs62521772	1.00[ASN][1000 genomes]
rs62521773	1.00[ASN][1000 genomes]
rs62521775	1.00[ASN][1000 genomes]
rs62521778	1.00[ASN][1000 genomes]
rs6998407	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000034	1.00[ASN][1000 genomes]
rs7000925	0.94[AFR][1000 genomes]
rs73337868	1.00[ASN][1000 genomes]
rs73337885	1.00[ASN][1000 genomes]
rs73337894	1.00[ASN][1000 genomes]
rs73341743	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703793	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703796	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703800	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835285	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838103	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844363	1.00[ASN][1000 genomes]
rs900628	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 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	chr8:124287800-124301200	Weak transcription	Esophagus	oesophagus
2	chr8:124288200-124298200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:124288200-124298400	Weak transcription	Right Atrium	heart
4	chr8:124289200-124293000	Weak transcription	Placenta	Placenta
5	chr8:124289400-124296800	Weak transcription	Brain Substantia Nigra	brain
6	chr8:124289400-124297000	Weak transcription	Brain Germinal Matrix	brain
7	chr8:124289400-124298000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:124289800-124293000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:124289800-124294600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:124289800-124296200	Weak transcription	Fetal Brain Female	brain
11	chr8:124290800-124292600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:124291400-124292200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:124291400-124292200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:124291400-124292400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:124291400-124292600	Enhancers	Fetal Muscle Leg	muscle
16	chr8:124291600-124292200	Enhancers	Fetal Muscle Trunk	muscle
17	chr8:124291600-124296800	Weak transcription	Brain Anterior Caudate	brain
18	chr8:124291600-124297400	Weak transcription	Brain Angular Gyrus	brain
19	chr8:124291800-124292400	Enhancers	HepG2	liver
20	chr8:124292000-124296800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:124292000-124296800	Weak transcription	Brain Hippocampus Middle	brain

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