Variant report

Variant	rs72956885
Chromosome Location	chr1:92617554-92617555
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58654116	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690811	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72956889	1.00[AMR][1000 genomes]
rs72956894	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS 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	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers 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	15 gene(s)	inside rSNPs	diseases
7	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	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
12	nsv871415	chr1:92340684-92641607	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv871144	chr1:92380302-92641607	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	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
15	nsv546821	chr1:92525678-92650349	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92555200-92620400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:92561200-92619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:92567200-92624200	Weak transcription	Fetal Stomach	stomach
4	chr1:92567400-92618000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:92570000-92619600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:92580800-92619000	Weak transcription	Pancreas	Pancrea
7	chr1:92590200-92624400	Weak transcription	Psoas Muscle	Psoas
8	chr1:92594000-92618200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:92597600-92621000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:92598400-92619400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:92601200-92634400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:92602200-92620000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:92602400-92618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:92606800-92620000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:92609800-92651200	Weak transcription	Fetal Kidney	kidney
16	chr1:92612000-92617600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:92612000-92620200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:92612200-92619400	Weak transcription	Placenta	Placenta
19	chr1:92612200-92623000	Weak transcription	Right Ventricle	heart
20	chr1:92612200-92626000	Weak transcription	Thymus	Thymus
21	chr1:92612400-92619800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:92613400-92645400	Weak transcription	Gastric	stomach
23	chr1:92614000-92618000	Weak transcription	Fetal Brain Female	brain
24	chr1:92614000-92619000	Weak transcription	Brain Substantia Nigra	brain
25	chr1:92614000-92627600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:92614200-92619000	Weak transcription	Left Ventricle	heart
27	chr1:92614200-92619400	Weak transcription	Esophagus	oesophagus
28	chr1:92614400-92618000	Weak transcription	Brain Germinal Matrix	brain
29	chr1:92614400-92618400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:92614400-92620400	Weak transcription	Fetal Intestine Large	intestine
31	chr1:92614600-92619600	Weak transcription	Brain Anterior Caudate	brain
32	chr1:92614600-92625800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:92614800-92623200	Weak transcription	Aorta	Aorta
34	chr1:92614800-92624400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:92615000-92620200	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:92615600-92619600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:92615600-92619600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:92615600-92622800	Weak transcription	Spleen	Spleen
39	chr1:92615600-92626000	Weak transcription	Brain Angular Gyrus	brain
40	chr1:92615600-92646000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:92615800-92619000	Weak transcription	Ovary	ovary
42	chr1:92615800-92619800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:92616400-92619400	Weak transcription	Lung	lung
44	chr1:92616400-92619400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:92616400-92619400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:92616400-92620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:92616600-92618400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:92616600-92619200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:92616600-92619400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:92616600-92619600	Weak transcription	Adipose Nuclei	Adipose

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