Variant report

Variant	rs2312675
Chromosome Location	chr1:166922533-166922534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1041238	0.80[CHB][hapmap]
rs10800276	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs10918599	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10918600	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918603	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10918607	0.80[CHB][hapmap]
rs11576904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11578336	0.80[CHB][hapmap]
rs11579987	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11588176	0.97[ASN][1000 genomes]
rs12126991	0.80[CHB][hapmap]
rs12133327	0.80[CHB][hapmap]
rs12569084	0.80[CHB][hapmap]
rs2038020	0.87[ASN][1000 genomes]
rs2038022	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2072742	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2142615	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235184	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2294220	0.94[ASN][1000 genomes]
rs2296837	0.80[CHB][hapmap]
rs3736988	0.80[CHB][hapmap]
rs4657613	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs61815130	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61815132	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6427047	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6427048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6427053	0.80[CHB][hapmap]
rs6655947	0.80[CHB][hapmap]
rs6660048	0.80[CHB][hapmap]
rs6669886	0.84[CHB][hapmap]
rs6673622	0.80[CHB][hapmap]
rs6673720	0.80[CHB][hapmap]
rs6677644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6695162	0.80[CHB][hapmap]
rs6695609	0.80[CHB][hapmap];0.83[AMR][1000 genomes]
rs6696203	0.80[CHB][hapmap]
rs6699159	0.80[CHB][hapmap]
rs742048	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7518155	0.80[CHB][hapmap]
rs7520897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7528849	0.80[CHB][hapmap]
rs7533688	0.80[CHB][hapmap]
rs7545806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7545911	0.80[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166914000-166923000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:166915400-166923800	Weak transcription	Dnd41	blood
3	chr1:166917200-166922600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:166917400-166922800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:166918400-166922600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:166919000-166922800	Enhancers	Colon Smooth Muscle	Colon
7	chr1:166919400-166936400	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:166919600-166929400	Weak transcription	Thymus	Thymus
9	chr1:166920000-166928200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:166921200-166922600	Enhancers	HSMM	muscle
11	chr1:166921200-166922600	Enhancers	NH-A	brain
12	chr1:166921400-166927200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:166921400-166927600	Weak transcription	Brain Anterior Caudate	brain
14	chr1:166921600-166935800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:166921800-166924000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:166921800-166924000	Weak transcription	Brain Angular Gyrus	brain
17	chr1:166922000-166922600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:166922000-166933800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:166922200-166923000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:166922200-166923000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:166922200-166927800	Weak transcription	HSMMtube	muscle
22	chr1:166922400-166923000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:166922400-166927600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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