Variant report

Variant	rs73322311
Chromosome Location	chr17:45384910-45384911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45384885-45384921	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45384246..45386352-chr17:45388308..45390190,2	K562	blood:
2	chr17:45373564..45376277-chr17:45383806..45386110,2	K562	blood:
3	chr17:45377393..45379681-chr17:45383404..45387690,4	K562	blood:
4	chr17:45384852..45386480-chr17:45387165..45389808,2	K562	blood:
5	chr17:45377393..45380597-chr17:45384667..45388953,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263293	TF binding region

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]
rs73322315	1.00[AFR][1000 genomes]
rs73322322	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
2	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:45371400-45393000	Weak transcription	Dnd41	blood
4	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
5	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain
8	chr17:45375400-45388400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr17:45376200-45389200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:45379600-45390400	Weak transcription	Fetal Intestine Small	intestine
11	chr17:45380200-45392800	Weak transcription	Brain Hippocampus Middle	brain
12	chr17:45380400-45387800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr17:45381400-45392600	Weak transcription	Liver	Liver
14	chr17:45381800-45387400	Weak transcription	Placenta	Placenta
15	chr17:45381800-45387600	Weak transcription	Fetal Intestine Large	intestine
16	chr17:45381800-45392800	Weak transcription	Left Ventricle	heart
17	chr17:45382200-45385000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr17:45382200-45385200	Enhancers	Hela-S3	cervix
19	chr17:45382400-45385000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:45382400-45385000	Enhancers	HMEC	breast
21	chr17:45382600-45385000	Enhancers	NHEK	skin
22	chr17:45382800-45387400	Weak transcription	Aorta	Aorta
23	chr17:45382800-45394600	Weak transcription	Small Intestine	intestine
24	chr17:45382800-45400800	Weak transcription	Lung	lung
25	chr17:45383000-45388400	Weak transcription	Spleen	Spleen
26	chr17:45383000-45389600	Strong transcription	Fetal Muscle Leg	muscle
27	chr17:45383200-45387400	Weak transcription	K562	blood
28	chr17:45383200-45387600	Weak transcription	Fetal Heart	heart
29	chr17:45383600-45387600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr17:45383600-45387800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:45383600-45392400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr17:45383600-45392600	Weak transcription	Adipose Nuclei	Adipose
33	chr17:45383800-45385000	Weak transcription	NHDF-Ad	bronchial
34	chr17:45383800-45385200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr17:45383800-45386400	Weak transcription	Ovary	ovary
36	chr17:45383800-45387400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:45383800-45387800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:45383800-45387800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:45383800-45391000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:45383800-45391200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:45383800-45392000	Weak transcription	HSMM	muscle
42	chr17:45383800-45392000	Weak transcription	NH-A	brain
43	chr17:45383800-45392200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:45384000-45390000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:45384000-45392000	Weak transcription	NHLF	lung
46	chr17:45384400-45385200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:45384400-45385200	Enhancers	Stomach Mucosa	stomach
48	chr17:45384400-45385400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr17:45384600-45385000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:45384600-45385200	Enhancers	Placenta Amnion	Placenta Amnion

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