Variant report

Variant	rs72864161
Chromosome Location	chr1:10244821-10244822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60837845	1.00[EUR][1000 genomes]
rs72864109	1.00[EUR][1000 genomes]
rs72864112	1.00[EUR][1000 genomes]
rs72864119	1.00[EUR][1000 genomes]
rs72864146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10230400-10245800	Weak transcription	Stomach Mucosa	stomach
2	chr1:10231200-10251600	Weak transcription	Right Atrium	heart
3	chr1:10232800-10246800	Weak transcription	Fetal Kidney	kidney
4	chr1:10233200-10258200	Weak transcription	Hela-S3	cervix
5	chr1:10234200-10249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:10236400-10258200	Weak transcription	HSMM	muscle
7	chr1:10240000-10249600	Weak transcription	GM12878-XiMat	blood
8	chr1:10240000-10255400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:10240200-10246400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:10240200-10246800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:10240400-10245600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:10240400-10246400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:10240400-10246400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:10240400-10246600	Weak transcription	Fetal Brain Female	brain
15	chr1:10240400-10246800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:10240400-10250000	Weak transcription	Fetal Brain Male	brain
17	chr1:10241000-10246800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:10241000-10248800	Weak transcription	Brain Angular Gyrus	brain
19	chr1:10241000-10249800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:10241000-10252200	Weak transcription	HepG2	liver
21	chr1:10241000-10252400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:10241000-10254000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:10241000-10254200	Weak transcription	Brain Anterior Caudate	brain
24	chr1:10241000-10254200	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:10241000-10254200	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:10241000-10254600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:10241000-10255600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:10241000-10257200	Weak transcription	Ovary	ovary
29	chr1:10241000-10258000	Weak transcription	Psoas Muscle	Psoas
30	chr1:10241200-10245600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:10241200-10245600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:10241200-10246800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:10241200-10248200	Weak transcription	Right Ventricle	heart
34	chr1:10241200-10248400	Weak transcription	Primary T cells from cord blood	blood
35	chr1:10241200-10248600	Weak transcription	NH-A	brain
36	chr1:10241200-10249000	Weak transcription	Pancreas	Pancrea
37	chr1:10241200-10249400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:10241200-10249600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:10241200-10249800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:10241200-10254000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:10241200-10254200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:10241200-10254200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:10241200-10259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:10241400-10253400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:10241400-10255600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:10241600-10245000	Weak transcription	Fetal Lung	lung
47	chr1:10241600-10245200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:10241600-10246400	Weak transcription	Fetal Intestine Large	intestine
49	chr1:10241600-10246400	Weak transcription	Thymus	Thymus
50	chr1:10241600-10247000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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