Variant report

Variant	rs7220606
Chromosome Location	chr17:45374795-45374796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45373943..45375464-chr17:45378021..45379653,2	K562	blood:
2	chr17:45369846..45373285-chr17:45374240..45379330,4	K562	blood:
3	chr17:45373564..45376277-chr17:45383806..45386110,2	K562	blood:
4	chr17:45311474..45313567-chr17:45373513..45375488,2	K562	blood:
5	chr17:45372166..45375464-chr17:45377689..45379653,5	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11655943	0.83[AMR][1000 genomes]
rs3809863	0.83[AMR][1000 genomes]
rs7221196	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221345	0.81[ASN][1000 genomes]
rs9303533	0.82[AMR][1000 genomes]
rs9674670	0.81[AMR][1000 genomes]
rs9905308	0.81[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

No data

Chromatin state (count:55 , 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	chr17:45371400-45393000	Weak transcription	Dnd41	blood
9	chr17:45372200-45375400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:45372200-45375800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:45372400-45376600	Weak transcription	Fetal Intestine Small	intestine
12	chr17:45372400-45383600	Weak transcription	Gastric	stomach
13	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
14	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:45372600-45375400	Weak transcription	Primary B cells from cord blood	blood
17	chr17:45372600-45376600	Weak transcription	Liver	Liver
18	chr17:45372600-45377200	Weak transcription	NHDF-Ad	bronchial
19	chr17:45372800-45375400	Weak transcription	HSMMtube	muscle
20	chr17:45372800-45376600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:45372800-45377600	Weak transcription	Osteobl	bone
22	chr17:45372800-45377800	Weak transcription	HUVEC	blood vessel
23	chr17:45372800-45379200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr17:45372800-45379200	Weak transcription	Fetal Lung	lung
25	chr17:45372800-45381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:45372800-45382800	Weak transcription	Colonic Mucosa	Colon
27	chr17:45373000-45374800	Weak transcription	HSMM	muscle
28	chr17:45373000-45377200	Weak transcription	Left Ventricle	heart
29	chr17:45373000-45377800	Weak transcription	Ovary	ovary
30	chr17:45373000-45378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:45373000-45378000	Weak transcription	K562	blood
32	chr17:45373000-45379200	Weak transcription	NHLF	lung
33	chr17:45373400-45375000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:45373400-45376600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:45373400-45377200	Weak transcription	Right Ventricle	heart
36	chr17:45373400-45378000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:45373600-45375000	Weak transcription	Adipose Nuclei	Adipose
38	chr17:45373600-45375800	Weak transcription	Aorta	Aorta
39	chr17:45373600-45375800	Weak transcription	Fetal Muscle Leg	muscle
40	chr17:45373600-45376000	Weak transcription	Lung	lung
41	chr17:45373600-45376000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr17:45373600-45376400	Weak transcription	Placenta	Placenta
43	chr17:45373600-45376800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:45373600-45382600	Weak transcription	Spleen	Spleen
45	chr17:45373800-45375800	Weak transcription	Fetal Stomach	stomach
46	chr17:45374000-45374800	Strong transcription	Colon Smooth Muscle	Colon
47	chr17:45374000-45375000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr17:45374000-45375600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:45374000-45376200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain

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