Variant report

Variant	rs72825758
Chromosome Location	chr2:99295951-99295952
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99295601..99297779-chr2:99317572..99320188,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72825760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825777	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv582516	chr2:99254031-99304794	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
2	chr2:99234800-99296400	Weak transcription	Esophagus	oesophagus
3	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
4	chr2:99251600-99302000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:99251600-99306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:99255600-99306800	Weak transcription	Colonic Mucosa	Colon
7	chr2:99256400-99296000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:99264600-99299000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:99265600-99306600	Weak transcription	Lung	lung
10	chr2:99265800-99303800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:99266200-99296200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:99266400-99304200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:99276000-99301400	Weak transcription	Aorta	Aorta
14	chr2:99278000-99296200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:99279200-99302200	Weak transcription	Right Ventricle	heart
16	chr2:99282800-99306600	Weak transcription	Left Ventricle	heart
17	chr2:99285200-99296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:99286400-99301400	Weak transcription	Pancreas	Pancrea
19	chr2:99286800-99304800	Weak transcription	Gastric	stomach
20	chr2:99288000-99310000	Weak transcription	Thymus	Thymus
21	chr2:99289800-99296400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:99291400-99299800	Weak transcription	HUVEC	blood vessel
23	chr2:99291400-99302000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:99291600-99296600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:99291600-99302200	Weak transcription	Liver	Liver
26	chr2:99291600-99302200	Weak transcription	Brain Anterior Caudate	brain
27	chr2:99291600-99302200	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:99291800-99299000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:99292000-99296000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:99292000-99310400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:99292200-99298400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:99292200-99306600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:99292200-99312800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:99292400-99296400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:99293400-99325200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:99293800-99296000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:99293800-99300000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:99293800-99302000	Weak transcription	HepG2	liver
39	chr2:99294000-99300200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:99294000-99302000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:99294000-99304200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:99294200-99298000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:99294200-99300000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:99294200-99313600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:99294200-99315000	Weak transcription	Fetal Intestine Large	intestine
46	chr2:99294400-99315000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:99294400-99318600	Weak transcription	Spleen	Spleen
48	chr2:99294600-99297000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:99294600-99306600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:99294600-99312600	Weak transcription	Primary monocytes fromperipheralblood	blood

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