Variant report

Variant	rs73325389
Chromosome Location	chr17:46104645-46104646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46101739..46105145-chr17:46207358..46210173,3	MCF-7	breast:
2	chr17:46103207..46104778-chr17:46151389..46152380,11	K562	blood:
3	chr17:46101075..46105793-chr17:46203518..46208640,6	MCF-7	breast:
4	chr17:46101220..46105616-chr17:46211133..46214847,5	K562	blood:
5	chr17:46100290..46104941-chr17:46183793..46186470,6	MCF-7	breast:
6	chr17:46102704..46105485-chr17:46150295..46153343,3	MCF-7	breast:
7	chr17:46037650..46039403-chr17:46103003..46105504,2	K562	blood:
8	chr17:46102745..46105471-chr17:46206069..46210163,5	K562	blood:
9	chr17:46103470..46105367-chr17:46151436..46152289,6	MCF-7	breast:
10	chr17:46102966..46105388-chr17:46145641..46147394,2	K562	blood:
11	chr17:46044123..46046243-chr17:46103230..46105369,2	MCF-7	breast:
12	chr17:46102851..46105550-chr17:46199872..46202014,2	MCF-7	breast:
13	chr17:46103422..46105528-chr17:46131002..46133417,2	K562	blood:
14	chr11:62607625..62609532-chr17:46102709..46105025,2	K562	blood:
15	chr17:46101261..46104972-chr17:46659979..46662985,3	K562	blood:
16	chr17:46102851..46105314-chr17:46237154..46238995,2	MCF-7	breast:
17	chr17:46070659..46072225-chr17:46102465..46104720,2	K562	blood:
18	chr17:46101917..46105138-chr17:46176105..46179935,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000141293	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2229368	0.95[EUR][1000 genomes]
rs28624980	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56216222	0.83[ASN][1000 genomes]
rs8078698	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899623	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46103200-46104800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr17:46103200-46105600	Enhancers	Pancreas	Pancrea
3	chr17:46103400-46104800	Enhancers	HMEC	breast
4	chr17:46103400-46104800	Enhancers	NHDF-Ad	bronchial
5	chr17:46103400-46105000	Enhancers	Fetal Muscle Leg	muscle
6	chr17:46103400-46105400	Enhancers	K562	blood
7	chr17:46103600-46104800	Enhancers	HSMMtube	muscle
8	chr17:46103600-46105000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr17:46103600-46110600	Weak transcription	Aorta	Aorta
10	chr17:46103800-46104800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:46103800-46104800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:46103800-46107800	Weak transcription	HUVEC	blood vessel
13	chr17:46104000-46105000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:46104200-46104800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:46104200-46113800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:46104400-46104800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr17:46104400-46104800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr17:46104400-46104800	Weak transcription	Placenta	Placenta
19	chr17:46104400-46105000	Enhancers	NHEK	skin
20	chr17:46104400-46105400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr17:46104400-46107800	Weak transcription	Adipose Nuclei	Adipose
22	chr17:46104400-46107800	Weak transcription	Brain Germinal Matrix	brain
23	chr17:46104400-46109200	Weak transcription	Left Ventricle	heart
24	chr17:46104400-46109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:46104400-46109600	Weak transcription	Ovary	ovary
26	chr17:46104400-46110600	Weak transcription	Spleen	Spleen
27	chr17:46104400-46111000	Weak transcription	Lung	lung
28	chr17:46104400-46114000	Weak transcription	Liver	Liver
29	chr17:46104400-46114000	Weak transcription	Right Ventricle	heart
30	chr17:46104400-46114200	Weak transcription	Brain Substantia Nigra	brain
31	chr17:46104600-46104800	Enhancers	Hela-S3	cervix
32	chr17:46104600-46105000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:46104600-46105000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:46104600-46105200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr17:46104600-46106000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:46104600-46107200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:46104600-46107600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:46104600-46107600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:46104600-46107600	Weak transcription	Esophagus	oesophagus
40	chr17:46104600-46107800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr17:46104600-46107800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr17:46104600-46107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:46104600-46107800	Weak transcription	Colon Smooth Muscle	Colon
44	chr17:46104600-46107800	Weak transcription	NH-A	brain
45	chr17:46104600-46107800	Weak transcription	NHLF	lung
46	chr17:46104600-46107800	Weak transcription	Osteobl	bone
47	chr17:46104600-46109000	Weak transcription	Fetal Stomach	stomach
48	chr17:46104600-46109200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:46104600-46109200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr17:46104600-46113800	Weak transcription	HSMM	muscle

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