Variant report

Variant	rs72911916
Chromosome Location	chr1:61747740-61747741
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	chr1:61747557..61749825-chr1:61750806..61753868,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11811322	1.00[AMR][1000 genomes]
rs1694221	1.00[AMR][1000 genomes]
rs1779852	1.00[AMR][1000 genomes]
rs1779860	1.00[AMR][1000 genomes]
rs1779863	1.00[AMR][1000 genomes]
rs34704050	1.00[AMR][1000 genomes]
rs61131876	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911911	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911921	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911960	1.00[AMR][1000 genomes]
rs72913873	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61720800-61755800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:61721000-61754400	Weak transcription	Pancreas	Pancrea
3	chr1:61725800-61750400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:61729600-61754400	Weak transcription	Lung	lung
5	chr1:61732800-61750000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:61737000-61750000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:61737200-61751600	Weak transcription	Hela-S3	cervix
8	chr1:61737400-61750000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:61737400-61751800	Weak transcription	Esophagus	oesophagus
10	chr1:61737600-61750200	Weak transcription	NHEK	skin
11	chr1:61738000-61752600	Weak transcription	HUVEC	blood vessel
12	chr1:61740800-61748000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:61742800-61747800	Weak transcription	A549	lung
14	chr1:61743000-61748000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:61743200-61747800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:61743200-61748000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:61743200-61752600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:61743400-61748200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:61743400-61748200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:61743400-61749600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:61743400-61754400	Weak transcription	Aorta	Aorta
22	chr1:61743400-61756400	Weak transcription	Right Ventricle	heart
23	chr1:61743600-61748000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:61744600-61748200	Weak transcription	Right Atrium	heart
25	chr1:61744600-61750000	Weak transcription	Fetal Stomach	stomach
26	chr1:61744600-61798600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:61745600-61747800	Weak transcription	Left Ventricle	heart
28	chr1:61745600-61747800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:61745600-61750000	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:61745600-61750800	Weak transcription	Brain Germinal Matrix	brain
31	chr1:61745800-61749600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:61745800-61750600	Weak transcription	Adipose Nuclei	Adipose
33	chr1:61746000-61748000	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:61746000-61748000	Weak transcription	Fetal Brain Female	brain
35	chr1:61746000-61748200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:61746000-61749600	Weak transcription	Brain Anterior Caudate	brain
37	chr1:61746000-61749800	Weak transcription	GM12878-XiMat	blood
38	chr1:61746000-61750800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:61746000-61751000	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:61746000-61751400	Weak transcription	Brain Angular Gyrus	brain
41	chr1:61746000-61751600	Weak transcription	Brain Substantia Nigra	brain
42	chr1:61746000-61752200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:61746000-61753200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:61746200-61747800	Weak transcription	Fetal Heart	heart
45	chr1:61746200-61749800	Weak transcription	Fetal Brain Male	brain
46	chr1:61746400-61748000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:61746400-61750800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:61746400-61754600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:61747000-61754000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:61747200-61749200	Enhancers	Psoas Muscle	Psoas

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