Variant report

Variant	rs12451643
Chromosome Location	chr17:17258596-17258597
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 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	chr17:17258291..17258902-chr17:17471730..17472231,2	K562	blood:
4	chr17:17257977..17259755-chr17:17472841..17474511,6	MCF-7	breast:
5	chr17:17255222..17260572-chr17:17470526..17473773,6	MCF-7	breast:
6	chr17:17255931..17259232-chr17:17416483..17420040,4	K562	blood:
7	chr17:17258335..17259042-chr17:17404049..17404955,3	MCF-7	breast:
8	chr17:17249857..17252343-chr17:17255429..17258698,4	K562	blood:
9	chr17:17257184..17259677-chr17:17398327..17400617,4	MCF-7	breast:
10	chr17:17258318..17258953-chr17:17544855..17545735,4	MCF-7	breast:
11	chr17:17258058..17258952-chr17:17544848..17545815,5	K562	blood:
12	chr17:17257197..17259273-chr17:17614438..17616951,2	K562	blood:
13	chr17:17254086..17257181-chr17:17257878..17260264,3	K562	blood:
14	chr17:17255767..17258601-chr17:17515737..17518655,2	K562	blood:
15	chr17:17258257..17260021-chr17:17471821..17472953,10	MCF-7	breast:
16	chr17:17258537..17261520-chr17:17290146..17293123,2	MCF-7	breast:
17	chr17:17258293..17258833-chr17:17545186..17545713,2	MCF-7	breast:
18	chr17:17254651..17257477-chr17:17257484..17259992,4	K562	blood:
19	chr17:17250809..17254100-chr17:17254558..17258698,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12450878	1.00[AFR][1000 genomes]
rs3744129	1.00[AFR][1000 genomes]
rs58629002	1.00[AFR][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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17246400-17258600	Weak transcription	Brain Angular Gyrus	brain
2	chr17:17250800-17265400	Weak transcription	Fetal Brain Female	brain
3	chr17:17251200-17258600	Weak transcription	Fetal Intestine Small	intestine
4	chr17:17254200-17259800	Weak transcription	A549	lung
5	chr17:17254800-17258600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:17255000-17259000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:17255400-17258800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:17255800-17258600	Weak transcription	Brain Germinal Matrix	brain
9	chr17:17256000-17258600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:17256000-17258600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:17256000-17259400	Weak transcription	Osteobl	bone
12	chr17:17256000-17259600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:17256000-17259600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:17256000-17264600	Weak transcription	NHDF-Ad	bronchial
15	chr17:17256000-17265000	Weak transcription	Left Ventricle	heart
16	chr17:17256200-17259800	Weak transcription	Placenta	Placenta
17	chr17:17256400-17258600	Weak transcription	HSMM	muscle
18	chr17:17256400-17259600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr17:17256600-17259800	Weak transcription	HSMMtube	muscle
20	chr17:17257000-17258600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:17257800-17259000	Enhancers	HepG2	liver
22	chr17:17257800-17260000	Enhancers	Fetal Heart	heart
23	chr17:17258000-17258600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr17:17258000-17258600	Enhancers	K562	blood
25	chr17:17258000-17258800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr17:17258000-17258800	Enhancers	Primary B cells from peripheral blood	blood
27	chr17:17258000-17258800	Enhancers	Fetal Lung	lung
28	chr17:17258000-17258800	Enhancers	HUVEC	blood vessel
29	chr17:17258000-17259200	Enhancers	Brain Hippocampus Middle	brain
30	chr17:17258000-17259200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr17:17258000-17259200	Bivalent Enhancer	Fetal Stomach	stomach
32	chr17:17258000-17259600	Enhancers	Fetal Muscle Leg	muscle
33	chr17:17258000-17259800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:17258000-17260400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:17258000-17260600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:17258000-17260600	Enhancers	Dnd41	blood
37	chr17:17258200-17258600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr17:17258200-17258600	Enhancers	Colon Smooth Muscle	Colon
39	chr17:17258200-17258800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr17:17258200-17258800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr17:17258200-17258800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:17258200-17259000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr17:17258200-17259200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr17:17258200-17259200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr17:17258200-17259400	Enhancers	Brain Anterior Caudate	brain
46	chr17:17258200-17260000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr17:17258200-17260200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:17258200-17260200	Enhancers	Fetal Brain Male	brain
49	chr17:17258400-17258600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:17258400-17258600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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