Variant report

Variant	rs16823257
Chromosome Location	chr2:183311380-183311381
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	chr2:183296401..183298106-chr2:183311342..183313093,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10207132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10497598	0.93[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap]
rs10497600	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10497601	0.83[AFR][1000 genomes]
rs11686025	0.86[CEU][hapmap];0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs13407156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13417045	0.81[CEU][hapmap]
rs1367203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1430147	0.94[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap]
rs1430148	0.94[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap]
rs1583114	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16823233	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16823254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17265027	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17265041	0.80[EUR][1000 genomes]
rs17265061	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17356152	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs17356166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17356207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17356214	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1946815	0.81[CEU][hapmap]
rs28569979	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34103461	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4091077	0.81[JPT][hapmap]
rs62188260	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62188264	0.80[EUR][1000 genomes]
rs62188266	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62188267	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62188268	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62188269	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62188270	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62188283	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62188284	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62188286	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62188287	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62188288	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62188289	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62188290	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62188297	0.82[AFR][1000 genomes]
rs62190201	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6760364	1.00[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183298800-183320800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:183308400-183312000	Weak transcription	Left Ventricle	heart
3	chr2:183309000-183311400	Enhancers	HSMM	muscle
4	chr2:183309200-183311400	Enhancers	Osteobl	bone
5	chr2:183309200-183313800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:183309600-183311400	Enhancers	Fetal Heart	heart
7	chr2:183309800-183313800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:183310200-183312200	Weak transcription	NHDF-Ad	bronchial
9	chr2:183310400-183311400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:183310400-183312000	Weak transcription	Aorta	Aorta
11	chr2:183310800-183312200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:183310800-183312200	Weak transcription	NHLF	lung
13	chr2:183311000-183311400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:183311000-183311400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:183311000-183311400	Enhancers	Brain Hippocampus Middle	brain
16	chr2:183311000-183311400	Enhancers	Fetal Brain Male	brain
17	chr2:183311000-183312000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:183311000-183312600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:183311200-183311400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:183311200-183311800	Weak transcription	Brain Angular Gyrus	brain
21	chr2:183311200-183312200	Weak transcription	HSMMtube	muscle

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