Variant report

Variant	rs72715269
Chromosome Location	chr1:174606213-174606214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56138951	0.82[EUR][1000 genomes]
rs72713578	0.83[EUR][1000 genomes]
rs72715274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717611	0.83[AMR][1000 genomes]
rs72717612	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72717621	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv534381	chr1:174468168-174656796	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1803591	chr1:174594575-174642336	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174582800-174606400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:174587600-174606600	Weak transcription	Primary B cells from cord blood	blood
3	chr1:174587600-174609200	Weak transcription	Pancreas	Pancrea
4	chr1:174595400-174609400	Weak transcription	GM12878-XiMat	blood
5	chr1:174595600-174609000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:174596000-174606800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:174596600-174609400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:174598600-174608600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:174603000-174606600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:174603200-174616000	Weak transcription	Fetal Intestine Large	intestine
11	chr1:174604000-174606600	Weak transcription	Primary T cells from cord blood	blood
12	chr1:174604200-174608800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:174604600-174606600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:174604600-174613800	Weak transcription	Ovary	ovary
15	chr1:174604800-174608200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:174605000-174606600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:174605000-174606600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:174605000-174606600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:174605200-174606400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:174605200-174606800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:174605200-174606800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:174605400-174606800	Weak transcription	Left Ventricle	heart
23	chr1:174605400-174608000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:174605400-174612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:174605600-174608000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:174605600-174608000	Weak transcription	Right Ventricle	heart
27	chr1:174605800-174608200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:174605800-174608800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:174606000-174608200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:174606000-174608200	Weak transcription	Placenta	Placenta
31	chr1:174606000-174608200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:174606200-174606400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr1:174606200-174606800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:174606200-174607200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr1:174606200-174607400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:174606200-174607400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:174606200-174607400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:174606200-174607400	Strong transcription	Adipose Nuclei	Adipose
39	chr1:174606200-174607600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:174606200-174621600	Weak transcription	Fetal Intestine Small	intestine

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