Variant report

Variant	rs72936076
Chromosome Location	chr2:39960339-39960340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs17024157	1.00[AMR][1000 genomes]
rs17024166	1.00[AMR][1000 genomes]
rs17024174	1.00[AMR][1000 genomes]
rs17024175	1.00[AMR][1000 genomes]
rs17024189	1.00[AMR][1000 genomes]
rs17024194	1.00[AMR][1000 genomes]
rs17024197	1.00[AMR][1000 genomes]
rs17024202	1.00[AMR][1000 genomes]
rs17024206	1.00[AMR][1000 genomes]
rs17024260	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024275	1.00[AFR][1000 genomes]
rs17024278	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024282	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024292	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17038962	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57028848	1.00[AMR][1000 genomes]
rs57317087	1.00[AMR][1000 genomes]
rs57564028	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58054718	1.00[AMR][1000 genomes]
rs58462460	1.00[AMR][1000 genomes]
rs60131290	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934288	1.00[AMR][1000 genomes]
rs72934295	1.00[AMR][1000 genomes]
rs72934302	1.00[AMR][1000 genomes]
rs72936018	1.00[AMR][1000 genomes]
rs72936030	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936031	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936034	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936037	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936041	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936044	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936047	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936053	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936058	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936072	1.00[AMR][1000 genomes]
rs72936073	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936078	1.00[AMR][1000 genomes]
rs72936079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936089	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936091	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936095	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936096	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936102	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938105	1.00[AMR][1000 genomes]
rs72938110	1.00[AMR][1000 genomes]
rs72938112	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938118	1.00[AMR][1000 genomes]
rs72938121	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938124	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938134	1.00[AMR][1000 genomes]
rs72938145	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs990404	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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3333378	chr2:39960230-39960349	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39942000-39963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
3	chr2:39948200-39961200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:39949000-39960400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:39951000-39963600	Weak transcription	Pancreas	Pancrea
6	chr2:39951000-39964800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:39951200-39964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:39951400-39961400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:39951400-39961800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:39951400-39962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:39951400-39963800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:39952000-39964800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:39952400-39962400	Weak transcription	Spleen	Spleen
14	chr2:39952600-39962600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:39952800-39962400	Weak transcription	Fetal Kidney	kidney
16	chr2:39952800-39962600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:39953200-39962400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:39955800-39960400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:39956000-39962800	Weak transcription	HUVEC	blood vessel
20	chr2:39956200-39960400	Weak transcription	GM12878-XiMat	blood
21	chr2:39956200-39962200	Weak transcription	Adipose Nuclei	Adipose
22	chr2:39956200-39966400	Weak transcription	Small Intestine	intestine
23	chr2:39956400-39962600	Weak transcription	Placenta	Placenta
24	chr2:39956600-39960400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:39956600-39962000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:39956600-39962000	Weak transcription	NH-A	brain
27	chr2:39956600-39962800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:39956600-39963400	Weak transcription	Ovary	ovary
29	chr2:39956800-39964600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:39957200-39960800	Genic enhancers	HSMMtube	muscle
31	chr2:39957400-39971200	Strong transcription	Primary T cells from cord blood	blood
32	chr2:39957600-39960600	Strong transcription	Fetal Brain Female	brain
33	chr2:39957600-39960800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:39957600-39960800	Strong transcription	Fetal Stomach	stomach
35	chr2:39957600-39963200	Strong transcription	Fetal Lung	lung
36	chr2:39957600-39964200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:39957800-39960400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:39957800-39960600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr2:39957800-39962400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:39958000-39961200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:39958400-39963800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:39958600-39960600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:39958600-39962600	Weak transcription	Hela-S3	cervix
44	chr2:39958800-39960600	Enhancers	Psoas Muscle	Psoas
45	chr2:39958800-39960800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:39958800-39962000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:39958800-39962600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:39958800-39962600	Genic enhancers	Osteobl	bone
49	chr2:39958800-39964400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:39958800-39964600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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