Variant report

Variant	rs17100655
Chromosome Location	chr1:77977578-77977579
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	chr1:77970720..77974460-chr1:77976825..77981208,5	K562	blood:
2	chr1:77963812..77966662-chr1:77976245..77978998,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1135921	1.00[AMR][1000 genomes]
rs1353727	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100694	1.00[AMR][1000 genomes]
rs17100731	1.00[AMR][1000 genomes]
rs17100781	1.00[AMR][1000 genomes]
rs17100789	1.00[AMR][1000 genomes]
rs17100941	1.00[AMR][1000 genomes]
rs2047167	1.00[AMR][1000 genomes]
rs2088519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256679	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2291689	1.00[AMR][1000 genomes]
rs2647495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2647513	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803139	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803166	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803169	1.00[AMR][1000 genomes]
rs2803170	1.00[AMR][1000 genomes]
rs3104462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3104463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3112830	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77969600-77981600	Enhancers	HUVEC	blood vessel
2	chr1:77971000-77980400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:77971200-77978800	Weak transcription	Primary T cells from cord blood	blood
4	chr1:77971200-77980600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:77972800-77979200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:77973600-77983400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:77974400-77978200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:77974600-77978200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:77974600-77982200	Enhancers	NHDF-Ad	bronchial
10	chr1:77974800-77977800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:77975200-77979600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:77976000-77978800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:77976200-77979000	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:77976400-77977800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:77976600-77977800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:77976800-77977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:77976800-77977600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:77976800-77977600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:77976800-77977800	Enhancers	NH-A	brain
20	chr1:77976800-77977800	Enhancers	NHEK	skin
21	chr1:77977000-77978000	Enhancers	A549	lung
22	chr1:77977000-77978200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:77977200-77977600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:77977200-77977600	Enhancers	Brain Angular Gyrus	brain
25	chr1:77977200-77977600	Weak transcription	Brain Substantia Nigra	brain
26	chr1:77977200-77977600	Enhancers	HMEC	breast
27	chr1:77977400-77977600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:77977400-77977600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:77977400-77977600	Enhancers	Brain Cingulate Gyrus	brain
30	chr1:77977400-77977600	Enhancers	Placenta	Placenta
31	chr1:77977400-77977800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:77977400-77977800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:77977400-77977800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:77977400-77977800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:77977400-77977800	Enhancers	Brain Anterior Caudate	brain
36	chr1:77977400-77977800	Enhancers	Brain Germinal Matrix	brain
37	chr1:77977400-77977800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:77977400-77977800	Enhancers	Ovary	ovary
39	chr1:77977400-77977800	Enhancers	Hela-S3	cervix
40	chr1:77977400-77977800	Flanking Active TSS	HSMM	muscle
41	chr1:77977400-77977800	Flanking Active TSS	HSMMtube	muscle
42	chr1:77977400-77977800	Flanking Active TSS	Osteobl	bone
43	chr1:77977400-77978000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:77977400-77978400	Enhancers	NHLF	lung
45	chr1:77977400-77979600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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