Variant report

Variant	rs7601431
Chromosome Location	chr2:50766464-50766465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10175222	0.86[CHB][hapmap]
rs10175903	0.90[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10190839	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10192721	0.95[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.90[YRI][hapmap]
rs10196148	0.82[CEU][hapmap]
rs10198562	0.85[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10205164	0.94[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap]
rs10207707	0.82[CEU][hapmap]
rs1024827	0.82[CEU][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs10490225	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs11125315	0.81[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs11125316	0.86[CHB][hapmap]
rs11125317	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs11125318	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs11678574	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs12615362	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12713105	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs12713108	0.91[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs12713110	0.95[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs12713112	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs12713113	0.86[JPT][hapmap]
rs13002153	0.86[CEU][hapmap];0.83[CHB][hapmap]
rs17537828	0.91[CHB][hapmap]
rs2058750	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs2111067	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap]
rs2351765	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs4140731	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.83[ASN][1000 genomes]
rs6545180	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6710893	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs6716892	0.86[CHB][hapmap]
rs6731542	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs6740444	0.87[JPT][hapmap];0.89[YRI][hapmap]
rs6760547	0.86[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap]
rs726359	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7424552	0.90[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs7565509	0.95[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs9309183	0.86[CEU][hapmap];0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs978243	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9789589	0.81[CEU][hapmap];0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv948361	chr2:50611076-50785178	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv933786	chr2:50628354-50780185	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1010510	chr2:50649641-51011565	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv535694	chr2:50649641-51011565	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv532650	chr2:50675808-51136752	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv491644	chr2:50680795-50892906	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv498102	chr2:50680795-50937503	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv532681	chr2:50715261-51172182	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv933959	chr2:50722885-50858529	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv915896	chr2:50725664-51057797	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv498101	chr2:50725729-50937503	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50759800-50777400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:50763800-50767800	Weak transcription	Fetal Brain Female	brain
3	chr2:50765800-50766800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:50765800-50767000	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:50766200-50769800	Weak transcription	Fetal Brain Male	brain
6	chr2:50766200-50773600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:50766200-50791800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:50766400-50767000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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