Variant report

Variant	rs73882418
Chromosome Location	chr22:29371840-29371841
allele	A/C
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]
rs56332784	1.00[AMR][1000 genomes]
rs57305931	1.00[AMR][1000 genomes]
rs73882416	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882445	1.00[AMR][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29350000-29372800	Weak transcription	Aorta	Aorta
2	chr22:29355400-29372800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:29358800-29372200	Weak transcription	Fetal Kidney	kidney
4	chr22:29359200-29372000	Weak transcription	Brain Substantia Nigra	brain
5	chr22:29359600-29373000	Weak transcription	Fetal Intestine Large	intestine
6	chr22:29359800-29372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:29361600-29373000	Weak transcription	Fetal Intestine Small	intestine
8	chr22:29361600-29373000	Weak transcription	Ovary	ovary
9	chr22:29365400-29372600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:29365600-29372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:29365600-29373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr22:29365800-29372200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr22:29365800-29372200	Weak transcription	Stomach Mucosa	stomach
14	chr22:29365800-29372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr22:29365800-29372600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:29365800-29373400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:29365800-29373600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
19	chr22:29366000-29372000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:29366000-29372000	Weak transcription	Liver	Liver
21	chr22:29366000-29372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr22:29366000-29373000	Weak transcription	Esophagus	oesophagus
23	chr22:29366000-29373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:29366000-29374400	Weak transcription	Lung	lung
25	chr22:29366000-29375400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:29366000-29379000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr22:29366200-29372600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:29366200-29373000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:29369400-29374400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr22:29369600-29372000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:29369600-29372800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr22:29369600-29378800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr22:29370600-29373000	Enhancers	HepG2	liver
34	chr22:29370800-29372000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr22:29371000-29372200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29371600-29373000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr22:29371800-29372000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr22:29371800-29372000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr22:29371800-29372400	Enhancers	HUVEC	blood vessel
40	chr22:29371800-29372800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:29371800-29372800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:29371800-29372800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:29371800-29372800	Enhancers	A549	lung
44	chr22:29371800-29372800	Enhancers	HSMM	muscle
45	chr22:29371800-29372800	Enhancers	NH-A	brain
46	chr22:29371800-29373000	Enhancers	HMEC	breast
47	chr22:29371800-29373000	Enhancers	NHEK	skin
48	chr22:29371800-29373200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr22:29371800-29373200	Enhancers	Brain Anterior Caudate	brain
50	chr22:29371800-29373200	Enhancers	Psoas Muscle	Psoas

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