Variant report

Variant	rs738996
Chromosome Location	chr22:28645300-28645301
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	chr22:28643886..28646105-chr22:28647458..28649434,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10483146	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17412920	1.00[ASW][hapmap]
rs17504185	1.00[CHD][hapmap]
rs2056962	1.00[ASW][hapmap];0.91[MEX][hapmap];0.87[AFR][1000 genomes]
rs2223369	1.00[ASW][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2346395	1.00[ASW][hapmap];0.83[MEX][hapmap]
rs7288416	1.00[ASW][hapmap]
rs73168125	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73168143	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9306454	1.00[ASW][hapmap]
rs9608677	1.00[ASW][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs9613588	0.87[AFR][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	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	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs738996	TTC28	cis	cerebellum	SCAN
rs738996	ZNF132	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28635600-28650800	Weak transcription	Dnd41	blood
3	chr22:28639400-28645800	Enhancers	Fetal Heart	heart
4	chr22:28640800-28646200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:28641000-28645600	Weak transcription	Aorta	Aorta
6	chr22:28641000-28646800	Weak transcription	Small Intestine	intestine
7	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
8	chr22:28641200-28648400	Weak transcription	Fetal Brain Male	brain
9	chr22:28642000-28648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:28642400-28646800	Enhancers	K562	blood
11	chr22:28642400-28649400	Weak transcription	Fetal Intestine Large	intestine
12	chr22:28642800-28647400	Weak transcription	HepG2	liver
13	chr22:28643200-28646200	Weak transcription	Primary T cells from cord blood	blood
14	chr22:28643400-28646400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:28643400-28649400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:28643400-28651800	Weak transcription	HSMMtube	muscle
17	chr22:28643600-28645600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:28643600-28646400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr22:28643600-28652400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:28643600-28652600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:28643800-28645600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr22:28644000-28645600	Weak transcription	NH-A	brain
23	chr22:28644000-28645800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:28644000-28646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr22:28644000-28653200	Weak transcription	NHLF	lung
26	chr22:28644200-28645400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:28644200-28645600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:28644200-28645600	Weak transcription	Osteobl	bone
29	chr22:28644200-28648400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr22:28644200-28648600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:28644200-28652600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:28644200-28656600	Weak transcription	Left Ventricle	heart
33	chr22:28644200-28661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:28644400-28645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:28644400-28645600	Weak transcription	Right Atrium	heart
36	chr22:28644400-28645600	Weak transcription	Right Ventricle	heart
37	chr22:28644400-28649400	Weak transcription	Gastric	stomach
38	chr22:28644400-28652600	Weak transcription	Fetal Lung	lung
39	chr22:28644400-28652600	Weak transcription	Fetal Muscle Leg	muscle
40	chr22:28644400-28652600	Weak transcription	Fetal Stomach	stomach
41	chr22:28644400-28662400	Weak transcription	Psoas Muscle	Psoas
42	chr22:28644600-28655400	Weak transcription	Brain Substantia Nigra	brain
43	chr22:28644800-28645800	Enhancers	Adipose Nuclei	Adipose
44	chr22:28645000-28645600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:28645000-28645800	Enhancers	NHDF-Ad	bronchial
46	chr22:28645000-28655600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr22:28645200-28645400	Enhancers	Fetal Intestine Small	intestine
48	chr22:28645200-28645400	Enhancers	HSMM	muscle
49	chr22:28645200-28647000	Weak transcription	Stomach Mucosa	stomach
50	chr22:28645200-28648600	Weak transcription	Brain Hippocampus Middle	brain

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