Variant report

Variant	rs7223956
Chromosome Location	chr17:45373844-45373845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45373564..45376277-chr17:45383806..45386110,2	K562	blood:
2	chr17:45311474..45313567-chr17:45373513..45375488,2	K562	blood:
3	chr17:45372166..45375464-chr17:45377689..45379653,5	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11650022	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17218711	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5918	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074396	0.81[EUR][1000 genomes]
rs62074428	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214096	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069732	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7223956	RPS7P11	cis	Artery Aorta	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45356800-45377200	Weak transcription	Fetal Intestine Large	intestine
2	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
3	chr17:45358200-45377200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:45370000-45376600	Weak transcription	Pancreas	Pancrea
6	chr17:45370000-45378000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:45371000-45377200	Weak transcription	Fetal Heart	heart
8	chr17:45371200-45374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr17:45371200-45374000	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr17:45371400-45374400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr17:45371400-45374400	Enhancers	Brain Hippocampus Middle	brain
12	chr17:45371400-45393000	Weak transcription	Dnd41	blood
13	chr17:45371600-45374000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:45371600-45374000	Enhancers	Brain Cingulate Gyrus	brain
15	chr17:45371600-45374000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:45371600-45374000	Enhancers	Brain Substantia Nigra	brain
17	chr17:45371600-45374200	Enhancers	Brain Angular Gyrus	brain
18	chr17:45371600-45374400	Enhancers	Brain Anterior Caudate	brain
19	chr17:45371800-45374000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:45372200-45375400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:45372200-45375800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr17:45372400-45376600	Weak transcription	Fetal Intestine Small	intestine
23	chr17:45372400-45383600	Weak transcription	Gastric	stomach
24	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
25	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:45372600-45374400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr17:45372600-45374400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr17:45372600-45375400	Weak transcription	Primary B cells from cord blood	blood
30	chr17:45372600-45376600	Weak transcription	Liver	Liver
31	chr17:45372600-45377200	Weak transcription	NHDF-Ad	bronchial
32	chr17:45372800-45375400	Weak transcription	HSMMtube	muscle
33	chr17:45372800-45376600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:45372800-45377600	Weak transcription	Osteobl	bone
35	chr17:45372800-45377800	Weak transcription	HUVEC	blood vessel
36	chr17:45372800-45379200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr17:45372800-45379200	Weak transcription	Fetal Lung	lung
38	chr17:45372800-45381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:45372800-45382800	Weak transcription	Colonic Mucosa	Colon
40	chr17:45373000-45374000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:45373000-45374800	Weak transcription	HSMM	muscle
42	chr17:45373000-45377200	Weak transcription	Left Ventricle	heart
43	chr17:45373000-45377800	Weak transcription	Ovary	ovary
44	chr17:45373000-45378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:45373000-45378000	Weak transcription	K562	blood
46	chr17:45373000-45379200	Weak transcription	NHLF	lung
47	chr17:45373400-45374200	Bivalent Enhancer	HepG2	liver
48	chr17:45373400-45375000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:45373400-45376600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr17:45373400-45377200	Weak transcription	Right Ventricle	heart

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