Variant report

Variant	rs6049685
Chromosome Location	chr20:24416503-24416504
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs56698917	1.00[AMR][1000 genomes]
rs57242312	1.00[AMR][1000 genomes]
rs58411424	1.00[AMR][1000 genomes]
rs58816199	1.00[AMR][1000 genomes]
rs60071381	1.00[AMR][1000 genomes]
rs6036757	1.00[AMR][1000 genomes]
rs6036761	1.00[AMR][1000 genomes]
rs6036764	1.00[AMR][1000 genomes]
rs6036765	1.00[AMR][1000 genomes]
rs6036795	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6036799	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6049646	1.00[AMR][1000 genomes]
rs6049649	1.00[AMR][1000 genomes]
rs6049650	1.00[AMR][1000 genomes]
rs6049658	1.00[AMR][1000 genomes]
rs6049661	1.00[AMR][1000 genomes]
rs6049664	1.00[AMR][1000 genomes]
rs6049684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6106890	1.00[AMR][1000 genomes]
rs6114680	1.00[AMR][1000 genomes]
rs6114737	1.00[AMR][1000 genomes]
rs6114742	1.00[AMR][1000 genomes]
rs61327850	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61331067	1.00[AMR][1000 genomes]
rs61466179	1.00[AMR][1000 genomes]
rs7267437	1.00[AMR][1000 genomes]
rs73334429	1.00[AMR][1000 genomes]
rs73334458	1.00[AMR][1000 genomes]
rs73334471	1.00[AMR][1000 genomes]
rs73334489	1.00[AMR][1000 genomes]
rs73334499	1.00[AMR][1000 genomes]
rs73336247	1.00[AMR][1000 genomes]
rs73338050	1.00[AMR][1000 genomes]
rs73339909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339986	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341661	1.00[AMR][1000 genomes]
rs73341667	1.00[AMR][1000 genomes]
rs73341672	1.00[AMR][1000 genomes]
rs73341695	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv833946	chr20:24320375-24490702	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1817087	chr20:24410195-24422253	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1821431	chr20:24410195-24422253	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv515713	chr20:24410195-24425987	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv458954	chr20:24410195-24431225	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv585733	chr20:24410195-24431225	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1818545	chr20:24411255-24422253	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv585739	chr20:24411854-24420634	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv585740	chr20:24411854-24421170	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1830114	chr20:24411854-24422253	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1832098	chr20:24411854-24422253	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1832122	chr20:24411854-24422253	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1844362	chr20:24411854-24422253	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1845502	chr20:24411854-24422253	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv585741	chr20:24411854-24422253	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1850507	chr20:24411854-24424386	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv585743	chr20:24412628-24422682	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24412400-24423400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:24412600-24423600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:24412800-24417000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr20:24413000-24416600	Weak transcription	Fetal Stomach	stomach
5	chr20:24413400-24416800	Weak transcription	Fetal Intestine Small	intestine
6	chr20:24413600-24417400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr20:24413800-24417000	Weak transcription	Fetal Kidney	kidney
8	chr20:24415800-24418600	Enhancers	Fetal Muscle Leg	muscle
9	chr20:24416000-24419200	Enhancers	Fetal Brain Male	brain
10	chr20:24416400-24416800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:24416400-24417200	Enhancers	Brain Cingulate Gyrus	brain
12	chr20:24416400-24417400	Enhancers	Brain Substantia Nigra	brain
13	chr20:24416400-24419200	Enhancers	Fetal Intestine Large	intestine
14	chr20:24416400-24421600	Weak transcription	Brain Inferior Temporal Lobe	brain

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