Variant report

Variant	rs74140994
Chromosome Location	chr1:228323080-228323081
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228320957..228324264-chr1:228357884..228361663,3	MCF-7	breast:
2	chr1:228321585..228323850-chr1:228673376..228675624,2	K562	blood:
3	chr1:228319215..228325156-chr1:228326279..228328957,6	K562	blood:

Variant related genes	Relation type
ENSG00000168159	Chromatin interaction
ENSG00000143774	Chromatin interaction
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs15109	1.00[ASN][1000 genomes]
rs16848270	0.90[ASN][1000 genomes]
rs16848361	1.00[EUR][1000 genomes]
rs2231711	1.00[EUR][1000 genomes]
rs34658204	1.00[EUR][1000 genomes]
rs41270181	1.00[EUR][1000 genomes]
rs41314262	1.00[EUR][1000 genomes]
rs45460992	1.00[EUR][1000 genomes]
rs55686465	0.90[ASN][1000 genomes]
rs55904630	1.00[ASN][1000 genomes]
rs55923168	0.90[ASN][1000 genomes]
rs56003736	0.90[ASN][1000 genomes]
rs56029925	0.90[ASN][1000 genomes]
rs56080014	1.00[ASN][1000 genomes]
rs56280452	1.00[EUR][1000 genomes]
rs56285667	1.00[ASN][1000 genomes]
rs56377909	1.00[ASN][1000 genomes]
rs56394518	1.00[EUR][1000 genomes]
rs56831205	0.90[ASN][1000 genomes]
rs57446195	0.90[ASN][1000 genomes]
rs57624754	1.00[EUR][1000 genomes]
rs58045861	1.00[ASN][1000 genomes]
rs58696607	1.00[EUR][1000 genomes]
rs58787263	1.00[EUR][1000 genomes]
rs59478442	1.00[ASN][1000 genomes]
rs60245137	0.90[ASN][1000 genomes]
rs60538700	1.00[EUR][1000 genomes]
rs60642596	1.00[EUR][1000 genomes]
rs60777646	1.00[EUR][1000 genomes]
rs61091413	1.00[EUR][1000 genomes]
rs61230585	0.90[ASN][1000 genomes]
rs61401568	1.00[ASN][1000 genomes]
rs61737797	0.90[ASN][1000 genomes]
rs73108778	1.00[EUR][1000 genomes]
rs74140818	1.00[EUR][1000 genomes]
rs74140819	1.00[EUR][1000 genomes]
rs74140821	1.00[EUR][1000 genomes]
rs74140822	1.00[EUR][1000 genomes]
rs74140823	1.00[EUR][1000 genomes]
rs74140907	0.90[ASN][1000 genomes]
rs74140910	0.90[ASN][1000 genomes]
rs74140912	0.90[ASN][1000 genomes]
rs74140915	0.90[ASN][1000 genomes]
rs74140916	0.90[ASN][1000 genomes]
rs74140918	0.90[ASN][1000 genomes]
rs74140919	0.90[ASN][1000 genomes]
rs74140923	0.90[ASN][1000 genomes]
rs74140925	0.90[ASN][1000 genomes]
rs74140953	0.90[ASN][1000 genomes]
rs74140954	0.90[ASN][1000 genomes]
rs74140955	0.90[ASN][1000 genomes]
rs74140956	0.90[ASN][1000 genomes]
rs74140957	0.90[ASN][1000 genomes]
rs74140960	0.90[ASN][1000 genomes]
rs74140961	0.90[ASN][1000 genomes]
rs74140963	0.90[ASN][1000 genomes]
rs74140965	0.90[ASN][1000 genomes]
rs74140967	0.90[ASN][1000 genomes]
rs74140969	0.81[ASN][1000 genomes]
rs74140970	1.00[ASN][1000 genomes]
rs74140973	1.00[ASN][1000 genomes]
rs74140976	1.00[ASN][1000 genomes]
rs74140978	1.00[ASN][1000 genomes]
rs74140980	1.00[ASN][1000 genomes]
rs74140989	1.00[ASN][1000 genomes]
rs74140996	1.00[ASN][1000 genomes]
rs74141002	1.00[ASN][1000 genomes]
rs74142606	1.00[ASN][1000 genomes]
rs74142608	1.00[ASN][1000 genomes]
rs74142625	1.00[ASN][1000 genomes]
rs74142627	1.00[ASN][1000 genomes]
rs74142642	1.00[ASN][1000 genomes]
rs74142644	1.00[ASN][1000 genomes]
rs74142645	1.00[ASN][1000 genomes]
rs74142647	1.00[ASN][1000 genomes]
rs74143607	1.00[EUR][1000 genomes]
rs74143612	1.00[EUR][1000 genomes]
rs74143614	1.00[EUR][1000 genomes]
rs74143615	1.00[EUR][1000 genomes]
rs74143616	1.00[EUR][1000 genomes]
rs74143631	0.90[ASN][1000 genomes]
rs74143632	0.90[ASN][1000 genomes]
rs74143634	0.90[ASN][1000 genomes]
rs74143635	0.90[ASN][1000 genomes]
rs74143636	0.90[ASN][1000 genomes]
rs74143637	0.90[ASN][1000 genomes]
rs74143638	0.90[ASN][1000 genomes]
rs74143640	0.90[ASN][1000 genomes]
rs74143641	0.90[ASN][1000 genomes]
rs74143642	0.90[ASN][1000 genomes]
rs74143662	0.90[ASN][1000 genomes]
rs74143665	0.90[ASN][1000 genomes]
rs74143667	0.90[ASN][1000 genomes]
rs752108	0.90[ASN][1000 genomes]
rs752109	0.90[ASN][1000 genomes]
rs8192631	1.00[EUR][1000 genomes]
rs9662484	1.00[EUR][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	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
5	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
6	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
8	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
9	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
10	nsv873256	chr1:228322826-228359775	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
11	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228318800-228324000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:228318800-228327000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:228318800-228327000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:228319000-228323400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:228319000-228323600	Weak transcription	Primary B cells from cord blood	blood
6	chr1:228319000-228323600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:228319000-228323600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:228319000-228325000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:228319200-228324400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:228322600-228323600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links