Variant report

Variant	rs56062615
Chromosome Location	chr22:29531712-29531713
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17522296	1.00[AFR][1000 genomes]
rs55937417	1.00[AFR][1000 genomes]
rs73154228	1.00[AFR][1000 genomes]
rs73156506	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
3	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29505800-29533000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:29512600-29533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:29514400-29532800	Weak transcription	Gastric	stomach
8	chr22:29515000-29533000	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:29515600-29533800	Weak transcription	Brain Germinal Matrix	brain
10	chr22:29517200-29546200	Strong transcription	Dnd41	blood
11	chr22:29518400-29535800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:29519400-29533800	Weak transcription	Fetal Brain Female	brain
13	chr22:29520600-29534200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:29521400-29533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:29522000-29533400	Weak transcription	Colonic Mucosa	Colon
16	chr22:29522400-29541600	Weak transcription	HMEC	breast
17	chr22:29522600-29532600	Weak transcription	Fetal Brain Male	brain
18	chr22:29522600-29532800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr22:29522600-29532800	Weak transcription	Pancreas	Pancrea
20	chr22:29522600-29533200	Weak transcription	Right Ventricle	heart
21	chr22:29522600-29533800	Weak transcription	Adipose Nuclei	Adipose
22	chr22:29522600-29538000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:29523000-29533400	Weak transcription	NHEK	skin
24	chr22:29523000-29534600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:29523400-29532800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
27	chr22:29524400-29533800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:29525400-29536000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:29525800-29532600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:29525800-29535800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:29525800-29544400	Weak transcription	NHLF	lung
32	chr22:29526000-29533000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:29526000-29533000	Weak transcription	HSMM	muscle
34	chr22:29526000-29535600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:29526000-29536200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:29526200-29542800	Weak transcription	Fetal Heart	heart
37	chr22:29526200-29547000	Weak transcription	K562	blood
38	chr22:29526400-29535800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:29526800-29532800	Weak transcription	Left Ventricle	heart
40	chr22:29526800-29533400	Weak transcription	NHDF-Ad	bronchial
41	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
42	chr22:29528000-29539000	Strong transcription	Ovary	ovary
43	chr22:29528200-29531800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr22:29528200-29535600	Strong transcription	Fetal Lung	lung
45	chr22:29528600-29532600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr22:29528600-29544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:29529200-29532600	Strong transcription	Fetal Stomach	stomach
48	chr22:29529400-29532000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
50	chr22:29529800-29535800	Strong transcription	Fetal Thymus	thymus

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