Variant report

Variant	rs10249554
Chromosome Location	chr7:110188743-110188744
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110182691..110184718-chr7:110187881..110190742,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10234302	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10238549	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10260765	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10260781	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10262019	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10279292	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12536009	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1632538	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17395309	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55735006	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56407337	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62465654	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6466343	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6964713	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7796754	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs953728	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016758	chr7:109834827-110549197	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv539059	chr7:109834827-110549197	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1028635	chr7:109896582-110417137	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv539060	chr7:109896582-110417137	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv427800	chr7:109949176-110257457	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1023596	chr7:109984459-110708071	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv539061	chr7:109984459-110708071	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv888968	chr7:110144415-110204292	Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv888969	chr7:110147378-110334465	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1032498	chr7:110151471-110508283	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1018254	chr7:110152875-110195366	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1028190	chr7:110152875-110197412	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1032748	chr7:110157227-110195366	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1021693	chr7:110157227-110197412	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1022043	chr7:110158246-110191057	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv5897	chr7:110160821-110208234	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1033233	chr7:110175198-110191057	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3476591	chr7:110180216-110190414	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3495201	chr7:110180866-110189514	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv511368	chr7:110181022-110192161	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3495194	chr7:110181266-110189414	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3495195	chr7:110181373-110188764	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv2559902	chr7:110181425-110189253	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv1824815	chr7:110181738-110189392	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1847216	chr7:110181738-110189392	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv8200	chr7:110181870-110189059	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv1794521	chr7:110182025-110189392	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv1820364	chr7:110182025-110189392	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv1831514	chr7:110182025-110189392	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1850438	chr7:110182025-110189678	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1793136	chr7:110182025-110192501	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv1798067	chr7:110182025-110192501	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv1846021	chr7:110182025-110192501	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv527727	chr7:110182414-110192161	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv464670	chr7:110182414-110192161	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv608114	chr7:110182414-110192161	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv608116	chr7:110183622-110192161	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv888970	chr7:110184985-110334465	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
39	nsv539062	chr7:110185012-110392264	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
40	nsv608145	chr7:110186587-110192161	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
41	nsv970767	chr7:110188474-110189770	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110188000-110189000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:110188000-110189200	Enhancers	NHEK	skin
3	chr7:110188200-110188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:110188200-110189000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:110188400-110188800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:110188600-110189000	Enhancers	HMEC	breast

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