Variant report

Variant	rs72969822
Chromosome Location	chr2:208848622-208848623
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12465292	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12471242	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13431014	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1452521	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17459574	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17459758	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17537670	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28463196	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4502388	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62190863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62190896	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62190898	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62190900	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62190904	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62190905	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62192772	0.82[AMR][1000 genomes]
rs6435402	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6740362	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7565251	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7588162	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs930745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208827400-208857400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:208834000-208864000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:208834800-208865000	Weak transcription	HSMMtube	muscle
4	chr2:208835800-208855400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:208835800-208860800	Weak transcription	Small Intestine	intestine
6	chr2:208836000-208878400	Weak transcription	Fetal Kidney	kidney
7	chr2:208838000-208848800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:208840000-208863800	Weak transcription	Placenta	Placenta
9	chr2:208841600-208864800	Weak transcription	HepG2	liver
10	chr2:208841600-208865200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:208841800-208864800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:208842000-208852000	Weak transcription	Psoas Muscle	Psoas
13	chr2:208842000-208862000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:208842000-208864200	Weak transcription	Fetal Thymus	thymus
15	chr2:208842200-208849000	Weak transcription	Pancreas	Pancrea
16	chr2:208842200-208850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:208842200-208851800	Weak transcription	Fetal Intestine Small	intestine
18	chr2:208842200-208852000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:208842200-208853400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:208842200-208854400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:208842200-208854600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:208842200-208856200	Weak transcription	Brain Angular Gyrus	brain
23	chr2:208842200-208856600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:208842200-208857200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:208842200-208861800	Weak transcription	Adipose Nuclei	Adipose
26	chr2:208842200-208861800	Weak transcription	Liver	Liver
27	chr2:208842200-208862000	Weak transcription	Lung	lung
28	chr2:208842200-208862400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:208842200-208862400	Weak transcription	Left Ventricle	heart
30	chr2:208842200-208862400	Weak transcription	Ovary	ovary
31	chr2:208842200-208864200	Weak transcription	Fetal Brain Female	brain
32	chr2:208842200-208864200	Weak transcription	Fetal Lung	lung
33	chr2:208842200-208864400	Weak transcription	Brain Substantia Nigra	brain
34	chr2:208842200-208864400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:208842200-208864600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:208842200-208864800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:208842200-208864800	Weak transcription	Aorta	Aorta
38	chr2:208842200-208864800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:208842200-208864800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:208842200-208864800	Weak transcription	Right Ventricle	heart
41	chr2:208842200-208865000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:208842200-208866600	Weak transcription	Gastric	stomach
43	chr2:208842200-208867600	Weak transcription	Thymus	Thymus
44	chr2:208842200-208871200	Weak transcription	Esophagus	oesophagus
45	chr2:208842400-208851800	Weak transcription	Fetal Intestine Large	intestine
46	chr2:208842400-208851800	Weak transcription	Spleen	Spleen
47	chr2:208842400-208856800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:208842400-208861000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:208842400-208864200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:208842400-208864400	Weak transcription	Stomach Smooth Muscle	stomach

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