Variant report

Variant	rs5752670
Chromosome Location	chr22:28364454-28364455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28361469..28363708-chr22:28364210..28366083,2	K562	blood:
2	chr22:28362771..28365535-chr22:28367291..28370086,2	K562	blood:
3	chr22:28362679..28365535-chr22:28367291..28371194,5	K562	blood:
4	chr22:28361846..28364536-chr22:28378435..28381037,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12160891	0.93[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs130413	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs138644	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs17486417	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2073028	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2143180	0.93[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2267125	0.93[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2345019	0.93[CEU][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28372773	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752651	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5762398	0.89[AMR][1000 genomes]
rs5762400	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs5762404	0.93[JPT][hapmap];0.89[AMR][1000 genomes]
rs5762410	0.93[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5762412	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5762425	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762428	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762448	1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs5762534	0.81[ASN][1000 genomes]
rs5997318	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5997341	1.00[YRI][hapmap]
rs6005674	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6005704	0.95[ASN][1000 genomes]
rs6005726	1.00[YRI][hapmap]
rs714743	0.93[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73166732	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28316400-28370200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
4	chr22:28318800-28382000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr22:28319600-28383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:28321400-28379000	Weak transcription	Primary B cells from cord blood	blood
7	chr22:28322000-28365200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:28322000-28366200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr22:28326800-28368600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:28329400-28377800	Weak transcription	Primary T cells from cord blood	blood
11	chr22:28339400-28367800	Weak transcription	Fetal Intestine Small	intestine
12	chr22:28353400-28369200	Weak transcription	Fetal Stomach	stomach
13	chr22:28355400-28387800	Weak transcription	Fetal Brain Male	brain
14	chr22:28355600-28366800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:28355600-28378000	Weak transcription	Gastric	stomach
16	chr22:28355800-28368600	Weak transcription	Pancreas	Pancrea
17	chr22:28355800-28371800	Weak transcription	Right Ventricle	heart
18	chr22:28355800-28378000	Weak transcription	Aorta	Aorta
19	chr22:28355800-28378000	Weak transcription	Left Ventricle	heart
20	chr22:28356600-28365600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:28356600-28378000	Weak transcription	Psoas Muscle	Psoas
22	chr22:28358600-28365600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:28358600-28379400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr22:28359000-28365800	Weak transcription	Fetal Heart	heart
25	chr22:28359000-28367800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr22:28359000-28368600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr22:28359000-28377800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:28359200-28377800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:28360000-28368800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:28360000-28371600	Weak transcription	Ovary	ovary
31	chr22:28360000-28379400	Weak transcription	Colonic Mucosa	Colon
32	chr22:28360200-28382800	Weak transcription	HSMM	muscle
33	chr22:28360600-28369000	Weak transcription	Liver	Liver
34	chr22:28360800-28392400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr22:28362600-28375800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:28362800-28378000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr22:28363000-28370000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr22:28363000-28377800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr22:28363800-28375000	Weak transcription	Lung	lung

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