Variant report

Variant	rs5752671
Chromosome Location	chr22:28366967-28366968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28358748..28362287-chr22:28366075..28369261,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12053760	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16986969	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2142561	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2235574	0.97[AFR][1000 genomes]
rs2294820	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5752658	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5752663	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5752672	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762408	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5762419	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5762422	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5762424	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][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:42 , 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	chr22:28326800-28368600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:28329400-28377800	Weak transcription	Primary T cells from cord blood	blood
9	chr22:28339400-28367800	Weak transcription	Fetal Intestine Small	intestine
10	chr22:28353400-28369200	Weak transcription	Fetal Stomach	stomach
11	chr22:28355400-28387800	Weak transcription	Fetal Brain Male	brain
12	chr22:28355600-28378000	Weak transcription	Gastric	stomach
13	chr22:28355800-28368600	Weak transcription	Pancreas	Pancrea
14	chr22:28355800-28371800	Weak transcription	Right Ventricle	heart
15	chr22:28355800-28378000	Weak transcription	Aorta	Aorta
16	chr22:28355800-28378000	Weak transcription	Left Ventricle	heart
17	chr22:28356600-28378000	Weak transcription	Psoas Muscle	Psoas
18	chr22:28358600-28379400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:28359000-28367800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:28359000-28368600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:28359000-28377800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr22:28359200-28377800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:28360000-28368800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:28360000-28371600	Weak transcription	Ovary	ovary
25	chr22:28360000-28379400	Weak transcription	Colonic Mucosa	Colon
26	chr22:28360200-28382800	Weak transcription	HSMM	muscle
27	chr22:28360600-28369000	Weak transcription	Liver	Liver
28	chr22:28360800-28392400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr22:28362600-28375800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:28362800-28378000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:28363000-28370000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr22:28363000-28377800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr22:28363800-28375000	Weak transcription	Lung	lung
34	chr22:28365200-28368600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:28365200-28377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:28365600-28367000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr22:28366200-28378000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr22:28366400-28369200	Weak transcription	NHLF	lung
39	chr22:28366600-28367000	ZNF genes & repeats	Colon Smooth Muscle	Colon
40	chr22:28366600-28367400	ZNF genes & repeats	Fetal Kidney	kidney
41	chr22:28366600-28368400	Weak transcription	Osteobl	bone
42	chr22:28366800-28367200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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