Variant report

Variant	rs73882417
Chromosome Location	chr22:29365931-29365932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29363426..29366355-chr22:29368106..29371113,3	K562	blood:
2	chr22:29357505..29361534-chr22:29364431..29368155,3	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16986970	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16987068	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56752813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57111962	1.00[AMR][1000 genomes]
rs57724605	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59264876	1.00[AMR][1000 genomes]
rs60213855	1.00[AMR][1000 genomes]
rs6519768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881171	1.00[AMR][1000 genomes]
rs73881179	1.00[AMR][1000 genomes]
rs73881184	1.00[AMR][1000 genomes]
rs73881191	1.00[AMR][1000 genomes]
rs73881193	1.00[AMR][1000 genomes]
rs73882412	1.00[AMR][1000 genomes]
rs73882419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882432	0.82[AFR][1000 genomes];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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29349200-29371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:29349200-29371800	Weak transcription	HSMM	muscle
3	chr22:29350000-29372800	Weak transcription	Aorta	Aorta
4	chr22:29355400-29372800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:29356800-29366400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:29358400-29369400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:29358800-29372200	Weak transcription	Fetal Kidney	kidney
8	chr22:29359200-29372000	Weak transcription	Brain Substantia Nigra	brain
9	chr22:29359600-29373000	Weak transcription	Fetal Intestine Large	intestine
10	chr22:29359800-29372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:29361200-29371600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr22:29361600-29373000	Weak transcription	Fetal Intestine Small	intestine
13	chr22:29361600-29373000	Weak transcription	Ovary	ovary
14	chr22:29364600-29366000	Enhancers	Liver	Liver
15	chr22:29364600-29366200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:29364800-29366000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr22:29364800-29366000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:29364800-29366000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr22:29364800-29366000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr22:29364800-29366000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:29364800-29366000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:29364800-29366200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr22:29364800-29366200	Enhancers	Brain Anterior Caudate	brain
24	chr22:29364800-29366200	Genic enhancers	HepG2	liver
25	chr22:29364800-29366400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr22:29365000-29366000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr22:29365000-29366000	Enhancers	HMEC	breast
28	chr22:29365400-29366000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:29365400-29366000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:29365400-29366000	Enhancers	Esophagus	oesophagus
31	chr22:29365400-29366000	Enhancers	NH-A	brain
32	chr22:29365400-29366000	Enhancers	Osteobl	bone
33	chr22:29365400-29372600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:29365600-29366000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:29365600-29366000	Enhancers	Lung	lung
36	chr22:29365600-29371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr22:29365600-29372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:29365600-29373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr22:29365800-29366600	Weak transcription	Gastric	stomach
40	chr22:29365800-29368600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:29365800-29369400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr22:29365800-29369400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr22:29365800-29371800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:29365800-29371800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr22:29365800-29371800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:29365800-29371800	Weak transcription	Psoas Muscle	Psoas
47	chr22:29365800-29371800	Weak transcription	NHEK	skin
48	chr22:29365800-29372200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr22:29365800-29372200	Weak transcription	Stomach Mucosa	stomach
50	chr22:29365800-29372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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