Variant report

Variant	rs71325264
Chromosome Location	chr22:28261113-28261114
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	chr22:28253925..28256869-chr22:28259144..28262465,3	K562	blood:

Variant related genes	Relation type
ENSG00000180957	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13055244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13055548	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13057353	1.00[AMR][1000 genomes]
rs13057948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34031771	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34946887	0.83[EUR][1000 genomes]
rs35098100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35182834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35568348	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35568804	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35750499	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35866626	1.00[AFR][1000 genomes]
rs35906248	1.00[AMR][1000 genomes]
rs36060887	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs41281591	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs71325266	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71325268	1.00[AFR][1000 genomes]
rs71325269	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71325272	1.00[AFR][1000 genomes]
rs736531	1.00[AMR][1000 genomes]
rs910009	1.00[AFR][1000 genomes];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	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	chr22:28241400-28261600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr22:28242400-28263200	Strong transcription	GM12878-XiMat	blood
3	chr22:28243800-28274000	Strong transcription	Dnd41	blood
4	chr22:28244000-28261800	Strong transcription	HMEC	breast
5	chr22:28244000-28263600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr22:28244200-28264200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:28248600-28263000	Weak transcription	Right Atrium	heart
9	chr22:28249800-28261400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr22:28249800-28262200	Weak transcription	Fetal Brain Male	brain
11	chr22:28251600-28267400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:28252200-28262600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:28252800-28265000	Weak transcription	K562	blood
14	chr22:28252800-28272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:28254000-28264200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr22:28254000-28264400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
19	chr22:28254200-28262000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr22:28254200-28263000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:28254200-28263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:28254200-28266600	Weak transcription	Fetal Brain Female	brain
23	chr22:28254200-28270200	Weak transcription	Right Ventricle	heart
24	chr22:28254400-28265200	Weak transcription	Brain Germinal Matrix	brain
25	chr22:28254600-28263600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr22:28254600-28267400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr22:28255000-28271200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr22:28255800-28262400	Weak transcription	Fetal Heart	heart
29	chr22:28256000-28261600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr22:28256000-28262600	Weak transcription	Aorta	Aorta
31	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
32	chr22:28256200-28263200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr22:28256200-28263600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr22:28256800-28263400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr22:28256800-28268400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr22:28257200-28261400	Strong transcription	HSMM	muscle
37	chr22:28257400-28261600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr22:28257400-28264200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr22:28257600-28263200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:28257800-28262200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr22:28258000-28262000	Weak transcription	Fetal Kidney	kidney
42	chr22:28258000-28263200	Weak transcription	Fetal Thymus	thymus
43	chr22:28258200-28261200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr22:28258200-28262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr22:28258200-28263200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr22:28258200-28263200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr22:28258200-28263600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr22:28258200-28264200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:28258200-28265800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr22:28258200-28267400	Weak transcription	Lung	lung

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