Variant report

Variant	rs55938033
Chromosome Location	chr22:29418621-29418622
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16987063	0.95[EUR][1000 genomes]
rs16987065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55693021	0.95[EUR][1000 genomes]
rs56061941	0.86[EUR][1000 genomes]
rs56734451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882427	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73882433	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29400600-29425400	Weak transcription	NHEK	skin
2	chr22:29401400-29419200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr22:29401400-29425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:29405400-29424600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:29408200-29419400	Weak transcription	Fetal Stomach	stomach
7	chr22:29408200-29419400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr22:29408200-29422600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr22:29408600-29419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:29408600-29419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:29410400-29419200	Weak transcription	Right Atrium	heart
12	chr22:29410400-29424800	Weak transcription	Psoas Muscle	Psoas
13	chr22:29411000-29418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:29411000-29419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:29411000-29419400	Weak transcription	Left Ventricle	heart
16	chr22:29411000-29422200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr22:29412400-29419400	Weak transcription	K562	blood
18	chr22:29412400-29424200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:29412800-29419400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr22:29413600-29419400	Weak transcription	Stomach Mucosa	stomach
21	chr22:29414200-29419000	Weak transcription	Fetal Lung	lung
22	chr22:29415200-29419200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:29415200-29419400	Weak transcription	Esophagus	oesophagus
24	chr22:29415200-29422000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:29415200-29424400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:29415200-29426200	Weak transcription	Aorta	Aorta
27	chr22:29416600-29419600	Weak transcription	Small Intestine	intestine
28	chr22:29417200-29420800	Enhancers	Fetal Intestine Small	intestine
29	chr22:29417200-29421000	Enhancers	Fetal Intestine Large	intestine
30	chr22:29417600-29419200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:29417600-29420600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr22:29417800-29419000	Flanking Active TSS	HepG2	liver
33	chr22:29417800-29420000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr22:29417800-29420000	Enhancers	Pancreas	Pancrea
35	chr22:29418000-29419800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:29418000-29419800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr22:29418200-29419200	Weak transcription	Fetal Heart	heart
38	chr22:29418200-29420000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr22:29418200-29420000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:29418200-29420000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr22:29418200-29420800	Enhancers	Duodenum Mucosa	Duodenum
42	chr22:29418400-29420000	Enhancers	Right Ventricle	heart
43	chr22:29418400-29420400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr22:29418400-29420800	Enhancers	Fetal Kidney	kidney
45	chr22:29418600-29419000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr22:29418600-29419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:29418600-29419400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:29418600-29419400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr22:29418600-29419600	Flanking Active TSS	A549	lung
50	chr22:29418600-29420600	Enhancers	Liver	Liver

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