Variant report

Variant	rs59923178
Chromosome Location	chr22:30142403-30142404
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30135111..30137455-chr22:30141470..30144208,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1548684	0.96[EUR][1000 genomes]
rs73390986	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73392822	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs740528	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30123200-30142800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:30123600-30146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:30123600-30147000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:30125400-30146200	Weak transcription	NHLF	lung
5	chr22:30126000-30144600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:30126600-30145200	Strong transcription	Primary T cells from cord blood	blood
7	chr22:30129400-30144600	Strong transcription	Liver	Liver
8	chr22:30130200-30150200	Weak transcription	A549	lung
9	chr22:30130400-30150600	Strong transcription	Fetal Intestine Small	intestine
10	chr22:30130600-30149800	Weak transcription	Psoas Muscle	Psoas
11	chr22:30131000-30145800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr22:30131400-30148600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:30131600-30144800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr22:30131600-30145600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:30131800-30147200	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr22:30133200-30144600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr22:30133400-30144600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr22:30134000-30144600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr22:30134200-30142600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr22:30134200-30144600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr22:30134400-30144800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:30134400-30158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:30134600-30145200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr22:30134800-30142600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr22:30136000-30154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:30136600-30146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr22:30136600-30146600	Weak transcription	Fetal Heart	heart
29	chr22:30136600-30146800	Weak transcription	Small Intestine	intestine
30	chr22:30136800-30145600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr22:30136800-30146600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr22:30137200-30142600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr22:30137200-30142800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr22:30137200-30143200	Weak transcription	Colonic Mucosa	Colon
35	chr22:30137200-30143800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:30138600-30142800	Weak transcription	Left Ventricle	heart
37	chr22:30138600-30143000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:30138800-30143400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:30139600-30143800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr22:30139600-30144600	Strong transcription	Brain Angular Gyrus	brain
41	chr22:30139600-30147000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr22:30139800-30144600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:30139800-30144800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:30139800-30146600	Strong transcription	Lung	lung
45	chr22:30140000-30144600	Strong transcription	Fetal Intestine Large	intestine
46	chr22:30140000-30144600	Strong transcription	Spleen	Spleen
47	chr22:30140000-30144800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr22:30140200-30144600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr22:30140400-30144800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr22:30140600-30144000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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