Variant report

Variant	rs57973944
Chromosome Location	chr2:56560807-56560808
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10166638	0.90[ASN][1000 genomes]
rs10173561	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10179998	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10183017	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10198922	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10200099	0.99[ASN][1000 genomes]
rs10206915	0.87[EUR][1000 genomes]
rs10460558	0.90[ASN][1000 genomes]
rs12469239	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1978376	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1978377	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1990759	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2058870	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2058871	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2111470	0.92[ASN][1000 genomes]
rs2111472	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2216329	1.00[ASN][1000 genomes]
rs3886957	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4141565	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4141566	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56777938	0.88[ASN][1000 genomes]
rs6545564	0.80[EUR][1000 genomes]
rs6706818	0.89[ASN][1000 genomes]
rs6710324	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6714529	0.81[EUR][1000 genomes]
rs6721952	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6722198	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731831	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6736091	0.90[ASN][1000 genomes]
rs6761258	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7355289	0.81[EUR][1000 genomes]
rs7601878	0.99[ASN][1000 genomes]
rs9679639	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9808260	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9917186	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv582032	chr2:56551074-56599354	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56527600-56561000	Weak transcription	HSMM	muscle
2	chr2:56558200-56561200	Weak transcription	Fetal Heart	heart
3	chr2:56560000-56561600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:56560200-56561200	Enhancers	Psoas Muscle	Psoas
5	chr2:56560200-56563200	Enhancers	Adipose Nuclei	Adipose
6	chr2:56560400-56561000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:56560400-56561400	Enhancers	Right Atrium	heart
8	chr2:56560400-56562000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:56560400-56562000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:56560400-56562200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:56560400-56562400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:56560600-56561800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:56560600-56561800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:56560600-56562000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:56560600-56562400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:56560600-56575400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:56560800-56561400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:56560800-56561600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:56560800-56562200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:56560800-56562800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:56560800-56563400	Weak transcription	Left Ventricle	heart

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