Variant report

Variant	rs73881193
Chromosome Location	chr22:29325342-29325343
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	chr22:29325211..29329451-chr22:29330662..29333324,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57724605	1.00[AMR][1000 genomes]
rs59264876	1.00[AMR][1000 genomes]
rs60213855	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6519768	1.00[AMR][1000 genomes]
rs73881171	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881178	0.89[AFR][1000 genomes]
rs73881179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881184	1.00[AMR][1000 genomes]
rs73881191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882412	0.86[AFR][1000 genomes];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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:29314800-29328400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:29315200-29326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:29317600-29325400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:29317800-29329400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:29318200-29326600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr22:29319400-29326200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr22:29320200-29326400	Weak transcription	Aorta	Aorta
9	chr22:29320200-29326400	Weak transcription	Left Ventricle	heart
10	chr22:29320400-29325800	Weak transcription	A549	lung
11	chr22:29320400-29326400	Weak transcription	Fetal Heart	heart
12	chr22:29320400-29326600	Weak transcription	Brain Angular Gyrus	brain
13	chr22:29320400-29328800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr22:29320600-29325600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr22:29320600-29326200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:29320600-29326400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr22:29320600-29326400	Weak transcription	Psoas Muscle	Psoas
18	chr22:29320600-29326400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:29320600-29326400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr22:29320600-29326600	Weak transcription	Fetal Brain Male	brain
21	chr22:29320600-29327600	Weak transcription	Esophagus	oesophagus
22	chr22:29320600-29330800	Weak transcription	Fetal Muscle Leg	muscle
23	chr22:29320600-29332200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr22:29321000-29326400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:29321000-29339600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:29321800-29326400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:29322000-29326400	Weak transcription	Fetal Intestine Large	intestine
28	chr22:29322000-29336600	Weak transcription	NHEK	skin
29	chr22:29322200-29325600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:29322200-29325600	Weak transcription	Fetal Intestine Small	intestine
31	chr22:29322200-29326400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr22:29322200-29326400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:29322200-29326400	Weak transcription	Brain Anterior Caudate	brain
34	chr22:29322200-29326400	Weak transcription	Ovary	ovary
35	chr22:29322200-29326400	Weak transcription	Right Atrium	heart
36	chr22:29322200-29326600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:29322200-29333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr22:29322400-29325400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr22:29322400-29326600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr22:29322400-29329600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr22:29323600-29329400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr22:29324000-29325400	Weak transcription	Liver	Liver
43	chr22:29324000-29326400	Weak transcription	Fetal Lung	lung
44	chr22:29324000-29326400	Weak transcription	Placenta	Placenta
45	chr22:29324000-29326400	Weak transcription	Pancreas	Pancrea
46	chr22:29324000-29335400	Weak transcription	Colon Smooth Muscle	Colon
47	chr22:29324200-29326200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr22:29324200-29326200	Weak transcription	K562	blood
49	chr22:29324200-29326400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr22:29324800-29329000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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