Variant report

Variant	rs72958788
Chromosome Location	chr1:92773713-92773714
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	chr1:92768070..92770349-chr1:92773069..92775193,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs35258161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56871729	1.00[AFR][1000 genomes]
rs56950188	1.00[AFR][1000 genomes]
rs59302389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59912348	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60450096	0.93[AFR][1000 genomes]
rs61638989	1.00[AMR][1000 genomes]
rs72956870	1.00[AMR][1000 genomes]
rs72956883	1.00[AMR][1000 genomes]
rs72958741	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958744	0.93[AFR][1000 genomes]
rs72958751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72960803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72960828	0.93[AFR][1000 genomes]
rs72960867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531207	1.00[AMR][1000 genomes]
rs7538609	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv830592	chr1:92669282-92805629	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv870667	chr1:92697188-92813741	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv871352	chr1:92761127-92807238	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv870854	chr1:92765102-92807238	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv871387	chr1:92765102-92813741	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92765200-92791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:92765200-92792000	Weak transcription	Aorta	Aorta
3	chr1:92765200-92792000	Weak transcription	Esophagus	oesophagus
4	chr1:92765600-92775600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:92765600-92777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:92765600-92778400	Weak transcription	Fetal Stomach	stomach
7	chr1:92765600-92789600	Weak transcription	Psoas Muscle	Psoas
8	chr1:92765600-92791000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:92765600-92791600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:92765600-92791800	Weak transcription	Lung	lung
11	chr1:92765600-92791800	Weak transcription	Pancreas	Pancrea
12	chr1:92765600-92791800	Weak transcription	Right Ventricle	heart
13	chr1:92765600-92792000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:92765600-92792000	Weak transcription	Spleen	Spleen
15	chr1:92765800-92786200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:92765800-92789000	Weak transcription	Ovary	ovary
17	chr1:92765800-92789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:92765800-92791600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:92765800-92791800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:92765800-92791800	Weak transcription	Gastric	stomach
21	chr1:92765800-92850000	Weak transcription	Small Intestine	intestine
22	chr1:92766000-92792000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:92766200-92789000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:92766400-92791600	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:92766600-92773800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:92766800-92776600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:92766800-92777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:92766800-92777600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:92767200-92774800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:92767200-92776200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:92767200-92779800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:92767200-92783600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:92767400-92775600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:92767400-92776600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:92767400-92783200	Weak transcription	Fetal Heart	heart
36	chr1:92767800-92776000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:92768000-92774200	Strong transcription	Dnd41	blood
38	chr1:92768400-92774800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:92768600-92774000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:92768600-92774000	Strong transcription	Adipose Nuclei	Adipose
41	chr1:92768600-92774600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:92768800-92773800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:92768800-92773800	Strong transcription	NH-A	brain
44	chr1:92768800-92774200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:92768800-92774200	Strong transcription	Fetal Lung	lung
46	chr1:92768800-92774200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr1:92768800-92774200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:92768800-92774800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:92768800-92775600	Strong transcription	HSMM	muscle
50	chr1:92768800-92779600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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