Variant report

Variant	rs74140905
Chromosome Location	chr1:228259842-228259843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228257466..228261450-chr1:228360954..228363878,3	K562	blood:
2	chr1:228248925..228252171-chr1:228258918..228261969,3	MCF-7	breast:
3	chr1:228230109..228232010-chr1:228259554..228261382,2	MCF-7	breast:
4	chr1:228246811..228249127-chr1:228257869..228259965,2	MCF-7	breast:
5	chr1:228259486..228261831-chr1:228263458..228267215,4	MCF-7	breast:
6	chr1:228187251..228191319-chr1:228259829..228263819,5	MCF-7	breast:
7	chr1:228252404..228256168-chr1:228256803..228260253,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12026579	0.92[AMR][1000 genomes]
rs12031390	0.92[AMR][1000 genomes]
rs12038612	0.92[AMR][1000 genomes]
rs12039528	0.92[AMR][1000 genomes]
rs12040506	0.92[AMR][1000 genomes]
rs12044962	0.92[AMR][1000 genomes]
rs12049152	0.92[AMR][1000 genomes]
rs2298013	0.92[AMR][1000 genomes]
rs3754358	0.92[AMR][1000 genomes]
rs3754359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55686465	0.92[AFR][1000 genomes]
rs56003736	0.92[AFR][1000 genomes]
rs56029925	0.92[AFR][1000 genomes]
rs56080014	0.85[AFR][1000 genomes]
rs56154605	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58045861	0.85[AFR][1000 genomes]
rs61230585	0.92[AFR][1000 genomes]
rs74140910	0.92[AFR][1000 genomes]
rs74140916	0.92[AFR][1000 genomes]
rs74140919	0.92[AFR][1000 genomes]
rs74140923	0.92[AFR][1000 genomes]
rs74140953	0.92[AFR][1000 genomes]
rs74140954	0.92[AFR][1000 genomes]
rs74140955	0.92[AFR][1000 genomes]
rs74140956	0.92[AFR][1000 genomes]
rs74140957	0.92[AFR][1000 genomes]
rs74140962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140963	0.92[AFR][1000 genomes]
rs74140967	0.92[AFR][1000 genomes]
rs74140968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140971	0.85[AFR][1000 genomes]
rs74140972	0.85[AFR][1000 genomes]
rs74140973	0.85[AFR][1000 genomes]
rs74140974	0.85[AFR][1000 genomes]
rs74140975	0.85[AFR][1000 genomes]
rs74140976	0.85[AFR][1000 genomes]
rs74140977	0.85[AFR][1000 genomes]
rs74140978	0.85[AFR][1000 genomes]
rs74140980	0.85[AFR][1000 genomes]
rs74140981	0.85[AFR][1000 genomes]
rs74140982	0.85[AFR][1000 genomes]
rs74140985	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs74143629	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74143633	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 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	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	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
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	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
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	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
9	esv1814215	chr1:228231601-228259932	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
10	esv1844252	chr1:228231601-228259932	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
11	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
12	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
13	esv3496695	chr1:228254279-228260727	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3496696	chr1:228254279-228260727	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv3350147	chr1:228254679-228260227	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	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
17	esv10341	chr1:228255275-228261200	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv821395	chr1:228255275-228261200	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv1798386	chr1:228255433-228259932	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1807928	chr1:228255433-228259932	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1831233	chr1:228255433-228259932	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv549278	chr1:228255433-228259932	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv549279	chr1:228255433-228260287	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv549280	chr1:228255433-228260433	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv1843491	chr1:228255433-228261130	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv549281	chr1:228255433-228261291	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv549283	chr1:228255729-228259932	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv549284	chr1:228255729-228261291	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	nsv826975	chr1:228256198-228260095	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv826986	chr1:228256198-228260163	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv549286	chr1:228256400-228259932	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	nsv826997	chr1:228256413-228260095	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv3340317	chr1:228256629-228261427	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
34	nsv827008	chr1:228256767-228260095	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv549287	chr1:228257094-228260287	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228248200-228269000	Weak transcription	Right Atrium	heart
2	chr1:228258600-228269000	Weak transcription	Esophagus	oesophagus
3	chr1:228259600-228262000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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