Variant report

Variant	rs73104966
Chromosome Location	chr1:220542507-220542508
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17007598	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17007609	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57124487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58541644	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092212	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104972	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104996	1.00[EUR][1000 genomes]
rs73104999	1.00[EUR][1000 genomes]
rs7529207	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220537000-220543400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:220537000-220544600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:220540600-220544800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:220541000-220542800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:220541000-220543400	Enhancers	Hela-S3	cervix
6	chr1:220541000-220544400	Enhancers	HSMMtube	muscle
7	chr1:220541200-220544600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:220541200-220544600	Enhancers	NH-A	brain
9	chr1:220541200-220544600	Enhancers	NHDF-Ad	bronchial
10	chr1:220541400-220542600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:220541400-220542600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:220541400-220543000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:220541400-220544200	Enhancers	Fetal Kidney	kidney
14	chr1:220541400-220544400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:220541400-220544400	Enhancers	Osteobl	bone
16	chr1:220541400-220544600	Enhancers	NHLF	lung
17	chr1:220541400-220544800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:220541400-220545000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:220541400-220545000	Enhancers	HMEC	breast
20	chr1:220541600-220542800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:220541600-220542800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:220541600-220542800	Enhancers	Psoas Muscle	Psoas
23	chr1:220541600-220543400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:220541600-220543400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:220541600-220544000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:220541600-220544400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:220541600-220544400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:220541600-220544600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:220541600-220544800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:220541600-220544800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:220541600-220545000	Enhancers	Placenta	Placenta
32	chr1:220541600-220545200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:220541600-220545200	Enhancers	Fetal Muscle Leg	muscle
34	chr1:220541800-220543600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr1:220541800-220544000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:220541800-220544600	Enhancers	Right Atrium	heart
37	chr1:220541800-220545000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:220542000-220542600	Enhancers	Brain Germinal Matrix	brain
39	chr1:220542000-220542600	Enhancers	HSMM	muscle
40	chr1:220542000-220543600	Enhancers	NHEK	skin
41	chr1:220542200-220542600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:220542200-220542600	Enhancers	Fetal Muscle Trunk	muscle
43	chr1:220542200-220542800	Enhancers	Spleen	Spleen
44	chr1:220542200-220543200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:220542200-220544800	Enhancers	Left Ventricle	heart
46	chr1:220542400-220542600	Enhancers	Stomach Smooth Muscle	stomach
47	chr1:220542400-220543400	Weak transcription	Fetal Stomach	stomach
48	chr1:220542400-220543600	Weak transcription	Right Ventricle	heart
49	chr1:220542400-220544400	Enhancers	Adipose Nuclei	Adipose
50	chr1:220542400-220544600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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