Variant report

Variant	rs7538099
Chromosome Location	chr1:224083858-224083859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10158345	1.00[CEU][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes]
rs12033395	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12035633	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044554	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12044701	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4653644	0.82[CEU][hapmap]
rs4653683	0.83[EUR][1000 genomes]
rs6604731	0.91[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs6696120	0.94[EUR][1000 genomes]
rs6699339	0.91[EUR][1000 genomes]
rs720757	0.84[EUR][1000 genomes]
rs9287000	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv1793921	chr1:224048131-224105965	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1817834	chr1:224052449-224095114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1803377	chr1:224052449-224108920	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1818074	chr1:224069625-224092240	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv17562	chr1:224074599-224112449	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873214	chr1:224075483-224166332	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv873215	chr1:224075483-224204433	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv873216	chr1:224075483-224230307	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv1802502	chr1:224076065-224184733	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv945315	chr1:224076219-224085337	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv945314	chr1:224076219-224128699	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv17549	chr1:224076244-224088484	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv8835	chr1:224076302-224096466	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv1796122	chr1:224077100-224095314	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv1819735	chr1:224077100-224095314	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv1821171	chr1:224077100-224096667	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv1803142	chr1:224077100-224101031	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	esv1801991	chr1:224077100-224106074	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	esv1816016	chr1:224077100-224132573	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv1812464	chr1:224077300-224090657	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1800925	chr1:224077300-224095114	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv1823123	chr1:224077300-224098816	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
27	esv1816754	chr1:224077300-224108920	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	esv1796263	chr1:224077300-224171777	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
29	esv1819762	chr1:224077300-224171777	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
30	esv1814598	chr1:224077416-224096667	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1843432	chr1:224077416-224096667	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv1808422	chr1:224077531-224095114	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv1850327	chr1:224077531-224095114	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv1813216	chr1:224079049-224138188	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224077400-224085600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224083800-224084000	Enhancers	Skeletal Muscle Female	skeletal muscle

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