Variant report

Variant	rs73981909
Chromosome Location	chr17:17256178-17256179
allele	C/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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17255222..17260572-chr17:17470526..17473773,6	MCF-7	breast:
2	chr17:17254086..17257181-chr17:17257878..17260264,3	K562	blood:
3	chr17:17255931..17259232-chr17:17416483..17420040,4	K562	blood:
4	chr17:17255909..17258113-chr17:17342308..17343826,2	MCF-7	breast:
5	chr17:17249857..17252343-chr17:17255429..17258698,4	K562	blood:
6	chr17:17254708..17257628-chr17:17472560..17475450,2	MCF-7	breast:
7	chr17:17255612..17258358-chr17:17267370..17271148,6	K562	blood:
8	chr17:17254130..17257919-chr17:17269049..17271007,3	K562	blood:
9	chr17:17255101..17257556-chr17:17547197..17549711,2	K562	blood:
10	chr17:17255767..17258601-chr17:17515737..17518655,2	K562	blood:
11	chr17:17254871..17257854-chr17:17406200..17408838,2	K562	blood:
12	chr17:17254651..17257477-chr17:17257484..17259992,4	K562	blood:
13	chr17:17206277..17209647-chr17:17255017..17258585,4	K562	blood:
14	chr17:17254622..17256313-chr17:17821466..17824370,2	K562	blood:
15	chr17:17250809..17254100-chr17:17254558..17258698,5	K562	blood:
16	chr17:17254341..17256825-chr17:17400091..17402826,3	MCF-7	breast:
17	chr17:17205478..17209647-chr17:17253825..17258585,6	K562	blood:
18	chr17:17138897..17142013-chr17:17252192..17257432,6	K562	blood:
19	chr17:17244761..17246680-chr17:17254508..17257010,2	K562	blood:
20	chr17:17247464..17250308-chr17:17252283..17256220,4	K562	blood:
21	chr17:17255215..17257060-chr17:17379149..17382063,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205309	Chromatin interaction
ENSG00000264187	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000141026	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10521328	0.85[ASN][1000 genomes]
rs16961593	1.00[ASN][1000 genomes]
rs16961599	1.00[ASN][1000 genomes]
rs242251	1.00[ASN][1000 genomes]
rs242252	1.00[ASN][1000 genomes]
rs6502581	0.85[ASN][1000 genomes]
rs6502582	0.85[ASN][1000 genomes]
rs6502583	0.85[ASN][1000 genomes]
rs7210856	0.85[ASN][1000 genomes]
rs7216091	0.85[ASN][1000 genomes]
rs7222318	0.85[ASN][1000 genomes]
rs7223820	0.85[ASN][1000 genomes]
rs73981908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73981911	0.92[ASN][1000 genomes]
rs8075306	0.85[ASN][1000 genomes]
rs955893	0.85[ASN][1000 genomes]
rs9912286	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17228200-17258200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:17229800-17258400	Weak transcription	Thymus	Thymus
3	chr17:17230200-17258200	Weak transcription	Brain Anterior Caudate	brain
4	chr17:17246400-17257800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr17:17246400-17258000	Weak transcription	Dnd41	blood
6	chr17:17246400-17258600	Weak transcription	Brain Angular Gyrus	brain
7	chr17:17248000-17258400	Weak transcription	Gastric	stomach
8	chr17:17248600-17258400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:17250800-17265400	Weak transcription	Fetal Brain Female	brain
10	chr17:17251200-17258000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:17251200-17258600	Weak transcription	Fetal Intestine Small	intestine
12	chr17:17251800-17256600	Enhancers	HSMMtube	muscle
13	chr17:17252200-17256600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr17:17252400-17256200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:17252400-17256800	Enhancers	Fetal Muscle Leg	muscle
16	chr17:17252400-17258000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:17252600-17256400	Enhancers	Fetal Heart	heart
18	chr17:17253200-17257000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:17254200-17258400	Weak transcription	Hela-S3	cervix
20	chr17:17254200-17259800	Weak transcription	A549	lung
21	chr17:17254600-17258000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr17:17254600-17258000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr17:17254600-17258000	Weak transcription	Fetal Lung	lung
24	chr17:17254600-17258400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr17:17254800-17256200	Enhancers	HUVEC	blood vessel
26	chr17:17254800-17258600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:17255000-17259000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:17255200-17256200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:17255200-17256400	Enhancers	K562	blood
30	chr17:17255400-17256200	Enhancers	Ovary	ovary
31	chr17:17255400-17258800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:17255600-17256200	Enhancers	Placenta	Placenta
33	chr17:17255600-17258200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:17255800-17256200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:17255800-17258000	Weak transcription	Brain Hippocampus Middle	brain
36	chr17:17255800-17258200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr17:17255800-17258200	Weak transcription	Fetal Brain Male	brain
38	chr17:17255800-17258400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:17255800-17258600	Weak transcription	Brain Germinal Matrix	brain
40	chr17:17256000-17256200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:17256000-17256200	Active TSS	Spleen	Spleen
42	chr17:17256000-17256400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr17:17256000-17256400	Bivalent Enhancer	HepG2	liver
44	chr17:17256000-17256400	Enhancers	HSMM	muscle
45	chr17:17256000-17258000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:17256000-17258200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr17:17256000-17258200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr17:17256000-17258400	Weak transcription	Adipose Nuclei	Adipose
49	chr17:17256000-17258400	Weak transcription	Right Ventricle	heart
50	chr17:17256000-17258400	Weak transcription	NHLF	lung

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