Variant report

Variant	rs242251
Chromosome Location	chr17:17259877-17259878
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 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	chr17:17259064..17259998-chr17:17516662..17517563,5	K562	blood:
4	chr17:17259223..17259968-chr17:17404096..17405018,2	MCF-7	breast:
5	chr17:17255222..17260572-chr17:17470526..17473773,6	MCF-7	breast:
6	chr17:17259077..17259971-chr17:17474407..17475371,2	MCF-7	breast:
7	chr17:17259420..17259973-chr17:17471097..17471627,2	MCF-7	breast:
8	chr17:17259640..17260243-chr17:17399134..17399771,2	MCF-7	breast:
9	chr17:17259111..17259919-chr17:17399843..17400794,5	MCF-7	breast:
10	chr17:17258751..17260211-chr17:17291478..17292805,6	MCF-7	breast:
11	chr17:17254086..17257181-chr17:17257878..17260264,3	K562	blood:
12	chr17:17259051..17260073-chr17:17399842..17400699,3	MCF-7	breast:
13	chr17:17259478..17260049-chr17:17471724..17472227,2	MCF-7	breast:
14	chr17:17259010..17260210-chr17:17473024..17474162,6	MCF-7	breast:
15	chr17:17259080..17260060-chr17:17564872..17565799,3	K562	blood:
16	chr17:17258257..17260021-chr17:17471821..17472953,10	MCF-7	breast:
17	chr17:17259089..17260385-chr17:17544622..17546177,9	MCF-7	breast:
18	chr17:17258537..17261520-chr17:17290146..17293123,2	MCF-7	breast:
19	chr17:17254651..17257477-chr17:17257484..17259992,4	K562	blood:
20	chr17:17259024..17260086-chr17:17544806..17545860,9	K562	blood:
21	chr17:17259451..17261683-chr17:17470862..17474766,5	MCF-7	breast:
22	chr17:17259250..17260032-chr17:17342972..17343523,2	MCF-7	breast:
23	chr17:17258752..17260284-chr17:17398889..17401777,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108551	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[CHB][hapmap];1.00[ASN][1000 genomes]
rs16961599	1.00[ASN][1000 genomes]
rs242249	0.82[CEU][hapmap]
rs242252	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502581	1.00[CHB][hapmap];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]
rs73981909	1.00[ASN][1000 genomes]
rs73981911	0.92[ASN][1000 genomes]
rs8075306	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs955893	0.85[ASN][1000 genomes]
rs9912286	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17250800-17265400	Weak transcription	Fetal Brain Female	brain
2	chr17:17256000-17264600	Weak transcription	NHDF-Ad	bronchial
3	chr17:17256000-17265000	Weak transcription	Left Ventricle	heart
4	chr17:17257800-17260000	Enhancers	Fetal Heart	heart
5	chr17:17258000-17260400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:17258000-17260600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:17258000-17260600	Enhancers	Dnd41	blood
8	chr17:17258200-17260000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:17258200-17260200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:17258200-17260200	Enhancers	Fetal Brain Male	brain
11	chr17:17258400-17260000	Enhancers	Adipose Nuclei	Adipose
12	chr17:17258400-17260400	Enhancers	Hela-S3	cervix
13	chr17:17258400-17262000	Enhancers	Fetal Thymus	thymus
14	chr17:17258600-17260200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:17258600-17260200	Enhancers	Brain Germinal Matrix	brain
16	chr17:17258600-17260400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:17258800-17261200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:17258800-17265600	Weak transcription	Right Ventricle	heart
19	chr17:17259200-17260000	Enhancers	Fetal Muscle Trunk	muscle
20	chr17:17259200-17265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr17:17259400-17260000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:17259400-17260200	Enhancers	Thymus	Thymus
23	chr17:17259400-17260200	Enhancers	Osteobl	bone
24	chr17:17259600-17260000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:17259600-17260000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr17:17259600-17260000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:17259600-17260000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr17:17259600-17260200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr17:17259800-17260000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr17:17259800-17260000	Enhancers	A549	lung
31	chr17:17259800-17260000	Enhancers	HSMMtube	muscle
32	chr17:17259800-17260200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr17:17259800-17260200	Enhancers	Placenta	Placenta
34	chr17:17259800-17260200	Enhancers	HepG2	liver
35	chr17:17259800-17261600	Weak transcription	Fetal Intestine Small	intestine
36	chr17:17259800-17265000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr17:17259800-17266200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links