Variant report

Variant	rs2647484
Chromosome Location	chr1:77888196-77888197
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77884906..77887618-chr1:77887940..77890792,2	K562	blood:

Variant related genes	Relation type
ENSG00000251767	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10735749	1.00[AMR][1000 genomes]
rs1353726	1.00[AMR][1000 genomes]
rs1377736	1.00[AMR][1000 genomes]
rs1532509	1.00[AMR][1000 genomes]
rs1874818	1.00[AMR][1000 genomes]
rs2246124	0.89[YRI][hapmap]
rs2349964	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2602931	0.88[YRI][hapmap]
rs2602939	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2602940	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2647526	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2803142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803144	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803148	1.00[AMR][1000 genomes]
rs2803149	1.00[AMR][1000 genomes]
rs2815305	1.00[AMR][1000 genomes]
rs2815336	1.00[AMR][1000 genomes]
rs3113636	1.00[AMR][1000 genomes]
rs35352712	1.00[AMR][1000 genomes]
rs4351701	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4949799	1.00[AMR][1000 genomes]
rs6603942	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs936004	0.88[YRI][hapmap]
rs9633478	1.00[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	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
6	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
7	esv1848735	chr1:77885282-77918347	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77872200-77893400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77876600-77888600	Strong transcription	HSMM	muscle
4	chr1:77882600-77889000	Weak transcription	NHLF	lung
5	chr1:77883000-77889800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:77883400-77888600	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr1:77884000-77889400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:77884400-77890400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:77884600-77889600	Weak transcription	Osteobl	bone
10	chr1:77884800-77889400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:77884800-77890600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:77885400-77890600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:77885600-77888400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:77885600-77888400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:77885800-77888200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:77886200-77888200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr1:77886400-77888400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:77886600-77888400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:77887000-77888400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:77887000-77888400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:77887000-77888400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:77887000-77888400	Strong transcription	Brain Angular Gyrus	brain
23	chr1:77887000-77888400	Strong transcription	Brain Cingulate Gyrus	brain
24	chr1:77887200-77888400	Strong transcription	Brain Anterior Caudate	brain
25	chr1:77887200-77888800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:77887200-77890200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:77887400-77888600	Strong transcription	Brain Hippocampus Middle	brain
28	chr1:77887600-77888400	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr1:77887600-77890000	Weak transcription	Aorta	Aorta
30	chr1:77887800-77888200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:77887800-77888400	Enhancers	Brain Substantia Nigra	brain
32	chr1:77887800-77888600	Enhancers	Primary T cells from cord blood	blood
33	chr1:77888000-77889000	Weak transcription	HSMMtube	muscle
34	chr1:77888000-77889000	Weak transcription	NHDF-Ad	bronchial
35	chr1:77888000-77889600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:77888000-77889600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:77888000-77893600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:77888000-77897000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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