Variant report

Variant	rs72615895
Chromosome Location	chr2:202235487-202235488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13435481	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391539	1.00[AFR][1000 genomes]
rs4383633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4512011	1.00[AFR][1000 genomes]
rs4593148	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57504424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57633949	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60074415	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60120540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61471044	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72615857	1.00[AFR][1000 genomes]
rs72615861	1.00[AFR][1000 genomes]
rs72615864	1.00[AFR][1000 genomes]
rs72615865	1.00[AFR][1000 genomes]
rs72615878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72615884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72615885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72615886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72616304	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72616305	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72616306	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616307	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72616359	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72616370	0.89[EUR][1000 genomes]
rs72616371	0.89[EUR][1000 genomes]
rs72616381	0.89[EUR][1000 genomes]
rs72616384	0.89[EUR][1000 genomes]
rs72618852	1.00[AFR][1000 genomes]
rs72618853	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875708	chr2:202173812-202252539	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:202194600-202245000	Weak transcription	Psoas Muscle	Psoas
2	chr2:202210000-202242000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:202212200-202240600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:202214000-202240600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:202222200-202243400	Weak transcription	Ovary	ovary
6	chr2:202222400-202243600	Weak transcription	Fetal Heart	heart
7	chr2:202224000-202242000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:202224400-202243200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:202225200-202241800	Weak transcription	NHDF-Ad	bronchial
10	chr2:202225200-202268800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:202227600-202244600	Weak transcription	Osteobl	bone
12	chr2:202227800-202244800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:202228000-202244800	Weak transcription	Colonic Mucosa	Colon
14	chr2:202228200-202244400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:202228200-202244800	Weak transcription	Brain Angular Gyrus	brain
16	chr2:202228200-202244800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:202228200-202264000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:202228400-202244800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:202228600-202245000	Weak transcription	Esophagus	oesophagus
20	chr2:202228600-202245000	Weak transcription	Thymus	Thymus
21	chr2:202228800-202239800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:202228800-202240400	Weak transcription	Placenta	Placenta
23	chr2:202228800-202244600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:202228800-202244800	Weak transcription	NHLF	lung
25	chr2:202228800-202245000	Weak transcription	Dnd41	blood
26	chr2:202228800-202245200	Weak transcription	Pancreas	Pancrea
27	chr2:202229000-202240600	Weak transcription	HSMMtube	muscle
28	chr2:202229000-202244800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:202229000-202244800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:202229000-202244800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:202229000-202245000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:202232200-202240200	Weak transcription	Adipose Nuclei	Adipose
33	chr2:202232200-202244600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:202232400-202240400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:202232400-202244800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:202232600-202245400	Weak transcription	Small Intestine	intestine
37	chr2:202232800-202244800	Weak transcription	Liver	Liver
38	chr2:202233000-202243400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:202233000-202244400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:202233000-202244800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:202233200-202242200	Weak transcription	Primary B cells from cord blood	blood
42	chr2:202233400-202240600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:202233400-202240600	Weak transcription	Brain Anterior Caudate	brain
44	chr2:202233400-202240600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:202233400-202240600	Weak transcription	HSMM	muscle
46	chr2:202233400-202242200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:202233400-202244800	Weak transcription	Brain Substantia Nigra	brain
48	chr2:202233600-202236200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:202233600-202240600	Weak transcription	Fetal Intestine Large	intestine
50	chr2:202233600-202240600	Weak transcription	Fetal Lung	lung

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