Variant report

Variant	rs242249
Chromosome Location	chr17:17257846-17257847
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	chr17:17257302..17260550-chr17:17346867..17350783,4	MCF-7	breast:
2	chr17:17257283..17262950-chr17:17394435..17403102,12	MCF-7	breast:
3	chr17:17255222..17260572-chr17:17470526..17473773,6	MCF-7	breast:
4	chr17:17255931..17259232-chr17:17416483..17420040,4	K562	blood:
5	chr17:17255909..17258113-chr17:17342308..17343826,2	MCF-7	breast:
6	chr17:17249857..17252343-chr17:17255429..17258698,4	K562	blood:
7	chr17:17257184..17259677-chr17:17398327..17400617,4	MCF-7	breast:
8	chr17:17256430..17258211-chr17:17583706..17586181,2	MCF-7	breast:
9	chr17:17257197..17259273-chr17:17614438..17616951,2	K562	blood:
10	chr17:17255612..17258358-chr17:17267370..17271148,6	K562	blood:
11	chr17:17254130..17257919-chr17:17269049..17271007,3	K562	blood:
12	chr17:17255767..17258601-chr17:17515737..17518655,2	K562	blood:
13	chr17:17254871..17257854-chr17:17406200..17408838,2	K562	blood:
14	chr17:17206277..17209647-chr17:17255017..17258585,4	K562	blood:
15	chr17:17254651..17257477-chr17:17257484..17259992,4	K562	blood:
16	chr17:17250809..17254100-chr17:17254558..17258698,5	K562	blood:
17	chr17:17245147..17248050-chr17:17256253..17257972,2	MCF-7	breast:
18	chr17:17205478..17209647-chr17:17253825..17258585,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205309	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11871529	0.87[ASN][1000 genomes]
rs242251	0.82[CEU][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs242249	TERF1	trans	parietal	SCAN

Chromatin state (count:51 , 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	chr17:17246400-17258000	Weak transcription	Dnd41	blood
5	chr17:17246400-17258600	Weak transcription	Brain Angular Gyrus	brain
6	chr17:17248000-17258400	Weak transcription	Gastric	stomach
7	chr17:17248600-17258400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:17250800-17265400	Weak transcription	Fetal Brain Female	brain
9	chr17:17251200-17258000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:17251200-17258600	Weak transcription	Fetal Intestine Small	intestine
11	chr17:17252400-17258000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:17254200-17258400	Weak transcription	Hela-S3	cervix
13	chr17:17254200-17259800	Weak transcription	A549	lung
14	chr17:17254600-17258000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr17:17254600-17258000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:17254600-17258000	Weak transcription	Fetal Lung	lung
17	chr17:17254600-17258400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:17254800-17258600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:17255000-17259000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:17255400-17258800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:17255600-17258200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:17255800-17258000	Weak transcription	Brain Hippocampus Middle	brain
23	chr17:17255800-17258200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr17:17255800-17258200	Weak transcription	Fetal Brain Male	brain
25	chr17:17255800-17258400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr17:17255800-17258600	Weak transcription	Brain Germinal Matrix	brain
27	chr17:17256000-17258000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:17256000-17258200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr17:17256000-17258200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr17:17256000-17258400	Weak transcription	Adipose Nuclei	Adipose
31	chr17:17256000-17258400	Weak transcription	Right Ventricle	heart
32	chr17:17256000-17258400	Weak transcription	NHLF	lung
33	chr17:17256000-17258600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:17256000-17258600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:17256000-17259400	Weak transcription	Osteobl	bone
36	chr17:17256000-17259600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:17256000-17259600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:17256000-17264600	Weak transcription	NHDF-Ad	bronchial
39	chr17:17256000-17265000	Weak transcription	Left Ventricle	heart
40	chr17:17256200-17258000	Weak transcription	HUVEC	blood vessel
41	chr17:17256200-17259800	Weak transcription	Placenta	Placenta
42	chr17:17256400-17258000	Weak transcription	K562	blood
43	chr17:17256400-17258600	Weak transcription	HSMM	muscle
44	chr17:17256400-17259600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr17:17256600-17259800	Weak transcription	HSMMtube	muscle
46	chr17:17256800-17258000	Weak transcription	Fetal Muscle Leg	muscle
47	chr17:17257000-17258600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:17257600-17258400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:17257800-17258200	Enhancers	Primary hematopoietic stem cells	blood
50	chr17:17257800-17259000	Enhancers	HepG2	liver

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