Variant report

Variant	rs73322322
Chromosome Location	chr17:45390025-45390026
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45384246..45386352-chr17:45388308..45390190,2	K562	blood:
2	chr17:45371857..45373419-chr17:45389135..45391339,2	K562	blood:
3	chr17:45315467..45317488-chr17:45387881..45390169,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs56721370	0.90[AFR][1000 genomes]
rs57044127	0.90[AFR][1000 genomes]
rs57172453	0.90[AFR][1000 genomes]
rs57180192	0.90[AFR][1000 genomes]
rs57216860	0.90[AFR][1000 genomes]
rs59392615	0.90[AFR][1000 genomes]
rs60348832	0.90[AFR][1000 genomes]
rs60444690	0.90[AFR][1000 genomes]
rs61020525	0.89[AFR][1000 genomes]
rs61274872	1.00[AFR][1000 genomes]
rs73320495	1.00[AFR][1000 genomes]
rs73320498	1.00[AFR][1000 genomes]
rs73322311	1.00[AFR][1000 genomes]
rs73322315	1.00[AFR][1000 genomes]
rs73322325	0.90[AFR][1000 genomes]
rs73322328	0.81[AFR][1000 genomes]
rs73322329	0.90[AFR][1000 genomes]
rs73322332	0.90[AFR][1000 genomes]
rs73322392	0.90[AFR][1000 genomes]
rs73322393	0.90[AFR][1000 genomes]
rs73322397	0.90[AFR][1000 genomes]
rs73322398	0.90[AFR][1000 genomes]
rs73322400	0.90[AFR][1000 genomes]
rs73324405	0.90[AFR][1000 genomes]
rs73324407	0.90[AFR][1000 genomes]
rs73324416	1.00[AFR][1000 genomes]
rs73324417	1.00[AFR][1000 genomes]
rs73324432	0.89[AFR][1000 genomes]
rs73324439	0.89[AFR][1000 genomes]
rs73324440	0.89[AFR][1000 genomes]
rs73324443	0.89[AFR][1000 genomes]
rs73324449	0.89[AFR][1000 genomes]
rs73324453	0.89[AFR][1000 genomes]
rs73324455	0.89[AFR][1000 genomes]
rs73324458	0.89[AFR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
2	chr17:45371400-45393000	Weak transcription	Dnd41	blood
3	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain
5	chr17:45379600-45390400	Weak transcription	Fetal Intestine Small	intestine
6	chr17:45380200-45392800	Weak transcription	Brain Hippocampus Middle	brain
7	chr17:45381400-45392600	Weak transcription	Liver	Liver
8	chr17:45381800-45392800	Weak transcription	Left Ventricle	heart
9	chr17:45382800-45394600	Weak transcription	Small Intestine	intestine
10	chr17:45382800-45400800	Weak transcription	Lung	lung
11	chr17:45383600-45392400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:45383600-45392600	Weak transcription	Adipose Nuclei	Adipose
13	chr17:45383800-45391000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:45383800-45391200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:45383800-45392000	Weak transcription	HSMM	muscle
16	chr17:45383800-45392000	Weak transcription	NH-A	brain
17	chr17:45383800-45392200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:45384000-45392000	Weak transcription	NHLF	lung
19	chr17:45385000-45391200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:45385000-45392600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:45385200-45392000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr17:45385400-45391600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:45387600-45390200	Strong transcription	Fetal Heart	heart
24	chr17:45387800-45392600	Weak transcription	K562	blood
25	chr17:45387800-45392800	Weak transcription	Fetal Intestine Large	intestine
26	chr17:45388000-45392200	Weak transcription	Hela-S3	cervix
27	chr17:45388200-45392600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:45388200-45393000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr17:45388400-45392200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:45388400-45392200	Weak transcription	NHDF-Ad	bronchial
31	chr17:45388400-45398000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr17:45388600-45392600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:45388800-45391200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr17:45388800-45392000	Weak transcription	Osteobl	bone
35	chr17:45388800-45392200	Weak transcription	HSMMtube	muscle
36	chr17:45388800-45392600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:45388800-45400800	Weak transcription	Aorta	Aorta
38	chr17:45389000-45390400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:45389000-45391400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:45389000-45392400	Weak transcription	Colon Smooth Muscle	Colon
41	chr17:45389000-45392800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr17:45389200-45390400	Weak transcription	Placenta	Placenta
43	chr17:45389200-45391000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:45389200-45392800	Weak transcription	Fetal Stomach	stomach
45	chr17:45389400-45391800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:45389800-45390200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr17:45389800-45390400	Enhancers	Duodenum Mucosa	Duodenum
48	chr17:45389800-45392600	Weak transcription	Fetal Muscle Leg	muscle
49	chr17:45389800-45392800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr17:45390000-45390400	Genic enhancers	HUVEC	blood vessel

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