Variant report

Variant	rs11980253
Chromosome Location	chr7:78854010-78854011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10225318	1.00[JPT][hapmap]
rs10247922	1.00[JPT][hapmap]
rs10248439	1.00[JPT][hapmap]
rs10258290	1.00[JPT][hapmap]
rs10261439	1.00[JPT][hapmap]
rs10263112	1.00[JPT][hapmap]
rs10276665	1.00[JPT][hapmap]
rs10485936	1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1100310	1.00[JPT][hapmap]
rs11972217	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11974844	0.90[ASN][1000 genomes]
rs11974872	0.90[ASN][1000 genomes]
rs11979157	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11980152	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs12670442	1.00[JPT][hapmap]
rs12670971	1.00[JPT][hapmap]
rs1358471	1.00[JPT][hapmap]
rs1406153	1.00[JPT][hapmap]
rs1406154	1.00[JPT][hapmap]
rs1528262	1.00[JPT][hapmap]
rs1534492	1.00[JPT][hapmap]
rs1534493	1.00[JPT][hapmap]
rs1609273	1.00[JPT][hapmap]
rs1609276	1.00[JPT][hapmap]
rs16886435	1.00[JPT][hapmap]
rs16886457	1.00[JPT][hapmap]
rs16886476	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16886549	1.00[JPT][hapmap]
rs17147873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17152006	1.00[JPT][hapmap]
rs17152009	1.00[JPT][hapmap]
rs17152011	1.00[JPT][hapmap]
rs17152041	1.00[JPT][hapmap]
rs17152051	1.00[JPT][hapmap]
rs17152063	1.00[JPT][hapmap]
rs17152076	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152125	1.00[JPT][hapmap]
rs17152224	1.00[JPT][hapmap]
rs17152238	1.00[JPT][hapmap]
rs17152245	1.00[JPT][hapmap]
rs17478565	1.00[JPT][hapmap]
rs17481134	1.00[JPT][hapmap]
rs17488042	1.00[JPT][hapmap]
rs17818755	1.00[JPT][hapmap]
rs1918930	1.00[JPT][hapmap]
rs1918932	1.00[JPT][hapmap]
rs2364908	1.00[JPT][hapmap]
rs3919522	1.00[JPT][hapmap]
rs4727839	1.00[JPT][hapmap]
rs4727840	1.00[JPT][hapmap]
rs4730758	1.00[JPT][hapmap]
rs6466622	1.00[JPT][hapmap]
rs6466638	1.00[JPT][hapmap]
rs6963068	1.00[JPT][hapmap]
rs7787904	1.00[JPT][hapmap]
rs7787956	1.00[JPT][hapmap]
rs7800314	1.00[JPT][hapmap]
rs7811441	1.00[JPT][hapmap]
rs848913	1.00[JPT][hapmap]
rs848932	1.00[JPT][hapmap]
rs848934	1.00[JPT][hapmap]
rs848948	1.00[JPT][hapmap]
rs848953	1.00[JPT][hapmap]
rs991261	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv888510	chr7:78742376-78865618	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv5806	chr7:78780156-78855716	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv437551	chr7:78796910-78856704	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv2757230	chr7:78801388-78887925	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv2759539	chr7:78801388-78887925	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1027497	chr7:78801756-78856071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv437552	chr7:78801909-78856704	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv437554	chr7:78801909-78856704	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv3476254	chr7:78803771-78854188	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv3476256	chr7:78803798-78854185	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	esv3476253	chr7:78803801-78854149	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv3476255	chr7:78803808-78854095	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv8168	chr7:78803845-78854514	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv499658	chr7:78803912-78854063	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	esv3476257	chr7:78803915-78854065	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	esv10934	chr7:78803960-78854070	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv1029701	chr7:78805287-78856071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
21	nsv1032357	chr7:78805287-78856637	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
22	esv2761161	chr7:78805299-78857007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
23	nsv437988	chr7:78806100-78910974	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1017352	chr7:78807175-78858690	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
25	nsv538989	chr7:78807175-78858690	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
26	nsv1019480	chr7:78807226-78856071	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
27	nsv831041	chr7:78819499-78973222	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv437555	chr7:78827136-78856704	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78846200-78856400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:78853600-78856400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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