Variant report

Variant	rs7600407
Chromosome Location	chr2:134014552-134014553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167342	0.94[EUR][1000 genomes]
rs10182118	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10193871	0.93[CHB][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10206544	0.92[EUR][1000 genomes]
rs10210486	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10496702	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12464930	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs13390487	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13413333	0.94[EUR][1000 genomes]
rs13414129	0.89[ASN][1000 genomes]
rs13418981	0.90[EUR][1000 genomes]
rs13430905	1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13431418	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1430169	0.87[EUR][1000 genomes]
rs17800749	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1820927	0.87[EUR][1000 genomes]
rs1835341	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2115865	0.89[EUR][1000 genomes]
rs2217428	0.80[CEU][hapmap];0.94[CHB][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4057049	0.88[CHB][hapmap];0.90[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62178459	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62179960	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62179961	0.87[EUR][1000 genomes]
rs62179967	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62179969	0.90[EUR][1000 genomes]
rs62179970	0.90[EUR][1000 genomes]
rs6430405	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6744863	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6749561	0.94[CHB][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6756852	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7568471	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7600871	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7603759	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949629	chr2:133830379-134014961	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011100	chr2:133900062-134046163	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1005405	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv535929	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv516915	chr2:133999831-134054662	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133994000-134023600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133998800-134014800	Weak transcription	Fetal Stomach	stomach
3	chr2:134004600-134021200	Weak transcription	Fetal Brain Male	brain
4	chr2:134011200-134022000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:134013200-134015800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:134013400-134014600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:134013400-134014800	Enhancers	Brain Hippocampus Middle	brain
8	chr2:134013400-134015400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:134013400-134017200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:134013400-134020000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:134013400-134020400	Weak transcription	NHLF	lung
12	chr2:134013400-134021400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:134014200-134014600	Enhancers	Brain Anterior Caudate	brain
14	chr2:134014200-134014800	Active TSS	Ovary	ovary
15	chr2:134014400-134014600	Enhancers	Fetal Lung	lung
16	chr2:134014400-134015400	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:134014400-134015400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:134014400-134020800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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