Variant report

Variant	rs2647491
Chromosome Location	chr1:77994157-77994158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1353727	1.00[MEX][hapmap]
rs1453974	1.00[MEX][hapmap]
rs17100694	0.96[AFR][1000 genomes]
rs17100731	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs17100774	1.00[MEX][hapmap]
rs17100781	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs17100789	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs17100791	1.00[MEX][hapmap]
rs17100850	1.00[MEX][hapmap]
rs17100941	1.00[ASW][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap]
rs1869468	1.00[MEX][hapmap]
rs2047167	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2270539	1.00[MEX][hapmap]
rs2291689	0.82[ASW][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.91[YRI][hapmap]
rs2602939	1.00[MEX][hapmap]
rs2803137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803144	1.00[MEX][hapmap]
rs2803149	1.00[MEX][hapmap]
rs2803169	0.95[AFR][1000 genomes]
rs2803170	0.94[AFR][1000 genomes]
rs2803171	0.98[AFR][1000 genomes]
rs2815331	1.00[MEX][hapmap]
rs2815334	1.00[MEX][hapmap]
rs3112830	1.00[MEX][hapmap]

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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1533	chr1:77990504-78036279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77980800-77999400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:77981800-77998400	Weak transcription	Osteobl	bone
3	chr1:77981800-77999200	Weak transcription	NHLF	lung
4	chr1:77981800-77999400	Weak transcription	HSMMtube	muscle
5	chr1:77982000-77998200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:77982000-77998200	Weak transcription	Brain Angular Gyrus	brain
7	chr1:77982200-77998200	Weak transcription	Brain Anterior Caudate	brain
8	chr1:77983000-78009200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:77984600-77996400	Strong transcription	NHDF-Ad	bronchial
10	chr1:77985200-77999400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:77985400-77999800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:77988400-77999800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:77988600-77999400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:77989000-77998200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:77990400-77998200	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:77991400-77995600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:77991400-77996200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:77991400-77996400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:77992000-77998400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:77992000-77999000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:77992000-77999200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:77992000-77999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:77992000-77999200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:77992200-77999200	Weak transcription	Primary T cells from cord blood	blood
25	chr1:77992200-77999200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:77993200-77995600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:77993400-77995600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:77993400-77995800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:77993400-77999400	Weak transcription	HSMM	muscle

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