Variant report

Variant	rs72717517
Chromosome Location	chr1:179325463-179325464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179324764..179330437-chr1:179332106..179336685,6	K562	blood:
2	chr1:179319218..179322738-chr1:179324103..179326545,3	K562	blood:
3	chr1:179317813..179320620-chr1:179325439..179328200,3	MCF-7	breast:
4	chr1:179323629..179325492-chr1:179329945..179332466,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263633	Chromatin interaction
ENSG00000162779	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16854006	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60890328	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717511	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717523	0.97[EUR][1000 genomes]
rs72717527	0.97[EUR][1000 genomes]
rs72717535	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72717536	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1804302	chr1:179315357-179333194	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv548277	chr1:179319868-179333194	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1809332	chr1:179320578-179333194	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv2762031	chr1:179323738-179375197	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv548278	chr1:179323919-179333194	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv518403	chr1:179323919-179371973	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv548279	chr1:179323919-179390148	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:179292400-179328000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:179296800-179327800	Weak transcription	Colonic Mucosa	Colon
4	chr1:179300400-179334600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:179305200-179327200	Weak transcription	Right Ventricle	heart
6	chr1:179305600-179334200	Weak transcription	Pancreas	Pancrea
7	chr1:179307400-179325800	Weak transcription	Esophagus	oesophagus
8	chr1:179309800-179326400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:179311600-179326400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:179312600-179334400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:179314600-179326200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:179314800-179327800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:179314800-179334400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:179315000-179334400	Weak transcription	Brain Substantia Nigra	brain
15	chr1:179315000-179334400	Weak transcription	Left Ventricle	heart
16	chr1:179315400-179334400	Weak transcription	Fetal Kidney	kidney
17	chr1:179315600-179334400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:179315800-179334200	Weak transcription	Fetal Thymus	thymus
19	chr1:179316000-179327600	Weak transcription	Brain Angular Gyrus	brain
20	chr1:179316000-179334000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:179316000-179334200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:179316000-179334400	Weak transcription	Fetal Brain Female	brain
23	chr1:179316000-179334400	Weak transcription	Ovary	ovary
24	chr1:179316400-179332800	Weak transcription	Fetal Intestine Small	intestine
25	chr1:179317600-179334400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:179317800-179327800	Weak transcription	NHEK	skin
27	chr1:179319200-179334400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:179319800-179334000	Weak transcription	HepG2	liver
29	chr1:179319800-179334200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:179320000-179334600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:179320600-179327200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:179320800-179334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:179320800-179334200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:179320800-179334400	Weak transcription	Fetal Lung	lung
35	chr1:179321000-179334200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:179321200-179334400	Weak transcription	Fetal Stomach	stomach
37	chr1:179321200-179334400	Weak transcription	Lung	lung
38	chr1:179321600-179327600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:179321800-179327200	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:179322000-179327200	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:179322400-179334200	Weak transcription	Primary B cells from cord blood	blood
42	chr1:179323000-179330600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:179323000-179333400	Weak transcription	Placenta	Placenta
44	chr1:179323000-179334200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:179323000-179334200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:179323000-179334200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:179323000-179334400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:179323000-179334400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:179323000-179334400	Weak transcription	NH-A	brain
50	chr1:179323000-179334400	Weak transcription	Osteobl	bone

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