Variant report

Variant	rs55888048
Chromosome Location	chr22:31577704-31577705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs17833442	0.82[EUR][1000 genomes]
rs2232173	0.87[ASN][1000 genomes]
rs56136528	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62236171	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62236183	1.00[AMR][1000 genomes]
rs62237366	0.87[ASN][1000 genomes]
rs62239378	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:31557400-31579800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:31557600-31578600	Weak transcription	K562	blood
6	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:31557800-31587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:31558000-31578000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:31558600-31583000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr22:31558600-31591400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr22:31558800-31591200	Weak transcription	Fetal Brain Male	brain
13	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:31562400-31583200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:31562600-31578400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:31564600-31582600	Weak transcription	Fetal Thymus	thymus
17	chr22:31566200-31583000	Weak transcription	Brain Angular Gyrus	brain
18	chr22:31566400-31583000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:31569600-31583200	Weak transcription	Brain Anterior Caudate	brain
20	chr22:31569800-31583000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr22:31569800-31591600	Weak transcription	Small Intestine	intestine
22	chr22:31570000-31606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr22:31570200-31583000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr22:31570400-31583000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr22:31570400-31586800	Strong transcription	Fetal Stomach	stomach
26	chr22:31570400-31597800	Weak transcription	HUVEC	blood vessel
27	chr22:31571800-31582800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:31572200-31600000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:31572800-31578800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr22:31572800-31579400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr22:31573600-31583000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:31573600-31583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:31574000-31583200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr22:31574200-31578400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:31574200-31590800	Weak transcription	Brain Substantia Nigra	brain
36	chr22:31574400-31578400	Weak transcription	Brain Germinal Matrix	brain
37	chr22:31574400-31581400	Weak transcription	Placenta	Placenta
38	chr22:31574400-31601600	Weak transcription	Fetal Heart	heart
39	chr22:31574600-31578400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr22:31574600-31581000	Weak transcription	Fetal Lung	lung
41	chr22:31574600-31581200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr22:31574600-31583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr22:31574800-31579800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:31574800-31581000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr22:31574800-31583000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:31574800-31587200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr22:31575200-31580000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr22:31575400-31582800	Weak transcription	Thymus	Thymus
49	chr22:31575600-31581200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr22:31575800-31578200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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