Variant report

Variant	rs73881184
Chromosome Location	chr22:29318234-29318235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29315873..29318298-chr22:29320072..29322086,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16986964	1.00[AMR][1000 genomes]
rs16986970	1.00[AMR][1000 genomes]
rs16987068	1.00[AMR][1000 genomes]
rs56752813	1.00[AMR][1000 genomes]
rs57111962	1.00[AMR][1000 genomes]
rs57724605	1.00[AMR][1000 genomes]
rs59264876	1.00[AMR][1000 genomes]
rs60213855	1.00[AMR][1000 genomes]
rs6519768	1.00[AMR][1000 genomes]
rs73881171	1.00[AMR][1000 genomes]
rs73881179	1.00[AMR][1000 genomes]
rs73881191	1.00[AMR][1000 genomes]
rs73881193	1.00[AMR][1000 genomes]
rs73882412	1.00[AMR][1000 genomes]
rs73882417	1.00[AMR][1000 genomes]
rs73882419	1.00[AMR][1000 genomes]
rs73882420	1.00[AMR][1000 genomes]
rs73882421	1.00[AMR][1000 genomes]
rs73882423	1.00[AMR][1000 genomes]
rs73882432	1.00[AMR][1000 genomes]
rs73882446	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29313200-29318600	Weak transcription	Spleen	Spleen
2	chr22:29314200-29318600	Weak transcription	Colonic Mucosa	Colon
3	chr22:29314200-29319800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:29314400-29318600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:29314400-29318800	Weak transcription	HMEC	breast
6	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
7	chr22:29314600-29321800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:29314800-29319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:29314800-29319800	Weak transcription	NH-A	brain
10	chr22:29314800-29328400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:29315000-29318600	Weak transcription	Aorta	Aorta
12	chr22:29315000-29318600	Weak transcription	Right Ventricle	heart
13	chr22:29315000-29319800	Weak transcription	Psoas Muscle	Psoas
14	chr22:29315200-29318600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr22:29315200-29318600	Weak transcription	Right Atrium	heart
16	chr22:29315200-29318800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:29315200-29318800	Weak transcription	Gastric	stomach
18	chr22:29315200-29319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:29315200-29319200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr22:29315200-29319800	Weak transcription	Fetal Brain Male	brain
21	chr22:29315200-29319800	Weak transcription	Left Ventricle	heart
22	chr22:29315200-29326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:29315400-29318400	Weak transcription	Fetal Heart	heart
24	chr22:29315400-29318600	Weak transcription	Ovary	ovary
25	chr22:29315400-29318600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr22:29315400-29319000	Weak transcription	Brain Angular Gyrus	brain
27	chr22:29315400-29319800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr22:29315800-29325000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:29316400-29322600	Enhancers	Fetal Lung	lung
30	chr22:29316600-29319600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr22:29316600-29320000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr22:29316600-29322600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:29316800-29319800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr22:29317000-29321000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr22:29317200-29318400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr22:29317200-29318600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:29317200-29319600	Weak transcription	Fetal Muscle Leg	muscle
38	chr22:29317200-29319600	Enhancers	Stomach Smooth Muscle	stomach
39	chr22:29317200-29319800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:29317200-29322000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:29317400-29318600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr22:29317400-29318800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:29317400-29319600	Weak transcription	Brain Germinal Matrix	brain
44	chr22:29317400-29319800	Enhancers	NHEK	skin
45	chr22:29317600-29318600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr22:29317600-29318600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr22:29317600-29318600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr22:29317600-29318600	Weak transcription	Brain Hippocampus Middle	brain
49	chr22:29317600-29318600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29317600-29318600	Weak transcription	Fetal Intestine Large	intestine

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