Variant report

Variant	rs5997320
Chromosome Location	chr22:28270372-28270373
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12160891	0.81[ASN][1000 genomes]
rs1985812	0.81[AMR][1000 genomes]
rs2013115	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2267123	0.95[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5752651	0.81[ASN][1000 genomes]
rs5762395	0.85[EUR][1000 genomes]
rs5762396	0.95[CEU][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes]
rs5762403	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5997318	0.81[ASN][1000 genomes]
rs714743	0.81[ASN][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28243800-28274000	Strong transcription	Dnd41	blood
2	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:28252800-28272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
6	chr22:28255000-28271200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
8	chr22:28258200-28275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:28259200-28279800	Weak transcription	Esophagus	oesophagus
10	chr22:28259600-28279600	Weak transcription	Gastric	stomach
11	chr22:28262800-28270800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr22:28263200-28271600	Strong transcription	Primary T cells from cord blood	blood
13	chr22:28263200-28273200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr22:28263400-28275400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr22:28263600-28271200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr22:28263600-28273200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr22:28263600-28279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr22:28263800-28279800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:28264200-28272200	Strong transcription	Primary B cells from cord blood	blood
20	chr22:28264400-28272000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr22:28264400-28276200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr22:28264600-28272200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr22:28264600-28272200	Strong transcription	HSMM	muscle
24	chr22:28264600-28273800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:28264800-28270400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr22:28264800-28271600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr22:28264800-28273000	Strong transcription	NH-A	brain
28	chr22:28264800-28274000	Strong transcription	NHEK	skin
29	chr22:28264800-28275400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:28265000-28270400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:28265200-28273000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:28265200-28274000	Weak transcription	Fetal Kidney	kidney
33	chr22:28265200-28275200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:28265400-28270400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr22:28265400-28270800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:28265600-28270400	Strong transcription	Placenta	Placenta
37	chr22:28265600-28271000	Strong transcription	Fetal Thymus	thymus
38	chr22:28265600-28271800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr22:28265600-28273400	Strong transcription	HMEC	breast
40	chr22:28265800-28270400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:28265800-28270400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr22:28266200-28270400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:28266400-28270400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr22:28266400-28271600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr22:28266800-28275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:28266800-28279800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr22:28267000-28274200	Strong transcription	HUVEC	blood vessel
48	chr22:28267200-28270400	Strong transcription	K562	blood
49	chr22:28267200-28272200	Weak transcription	Stomach Mucosa	stomach
50	chr22:28267200-28276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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