Variant report

Variant	rs1978377
Chromosome Location	chr2:56541886-56541887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56535064..56538835-chr2:56538969..56542795,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10173561	0.91[CEU][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes]
rs10179998	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10183017	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10198922	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10200099	0.82[ASN][1000 genomes]
rs10206915	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10460558	0.91[JPT][hapmap]
rs12469239	0.84[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1549030	0.83[CEU][hapmap]
rs1978376	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1990759	0.83[ASN][1000 genomes]
rs2058870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2058871	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2111470	0.91[JPT][hapmap]
rs2111472	0.91[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2216329	0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs3886957	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4141565	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4141566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57973944	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6545564	0.81[EUR][1000 genomes]
rs6706818	0.91[JPT][hapmap]
rs6710324	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6714529	0.82[EUR][1000 genomes]
rs6721952	0.83[ASN][1000 genomes]
rs6722198	0.92[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6731831	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6761258	0.94[EUR][1000 genomes]
rs7355289	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7561764	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs7601878	0.82[ASN][1000 genomes]
rs9679639	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9808260	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv522006	chr2:56496589-56545845	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56527400-56547400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:56527600-56561000	Weak transcription	HSMM	muscle
3	chr2:56540400-56542000	Enhancers	Fetal Intestine Large	intestine
4	chr2:56540400-56543400	Enhancers	Adipose Nuclei	Adipose
5	chr2:56540600-56542000	Enhancers	Fetal Muscle Leg	muscle
6	chr2:56540600-56542400	Enhancers	Psoas Muscle	Psoas
7	chr2:56540800-56542000	Enhancers	Right Atrium	heart
8	chr2:56541000-56542000	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:56541000-56542000	Enhancers	Right Ventricle	heart
10	chr2:56541200-56542800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:56541400-56545400	Weak transcription	Left Ventricle	heart
12	chr2:56541600-56543400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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