Variant report

Variant	rs17024499
Chromosome Location	chr1:120457187-120457188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120455729..120458677-chr1:120465147..120468544,4	MCF-7	breast:
2	chr1:120456262..120460550-chr1:120460767..120463877,3	K562	blood:

Variant related genes	Relation type
ENSG00000134250	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11811131	1.00[AMR][1000 genomes]
rs11812072	1.00[MEX][hapmap]
rs17024526	1.00[ASW][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs34101238	1.00[AMR][1000 genomes]
rs3897840	1.00[MEX][hapmap]
rs6672942	1.00[MEX][hapmap]
rs7513674	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553305	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv533996	chr1:120359524-120471049	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv436325	chr1:120390914-120471049	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv547625	chr1:120422705-120466108	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv2610	chr1:120451060-120471049	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120448200-120471000	Weak transcription	Right Atrium	heart
2	chr1:120448400-120457400	Weak transcription	Fetal Brain Female	brain
3	chr1:120449200-120457200	Weak transcription	Gastric	stomach
4	chr1:120449600-120457800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:120450000-120473000	Strong transcription	HSMM	muscle
6	chr1:120450200-120457800	Weak transcription	Colonic Mucosa	Colon
7	chr1:120450200-120458600	Weak transcription	HepG2	liver
8	chr1:120451000-120458400	Weak transcription	Small Intestine	intestine
9	chr1:120451000-120466800	Weak transcription	Fetal Brain Male	brain
10	chr1:120451400-120457200	Weak transcription	Hela-S3	cervix
11	chr1:120451600-120480000	Weak transcription	Psoas Muscle	Psoas
12	chr1:120452000-120485600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:120452600-120457400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:120452600-120472800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:120452800-120457400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:120452800-120460000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:120453000-120473200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:120453000-120476400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:120453000-120483600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:120453200-120457200	Weak transcription	NHEK	skin
21	chr1:120453200-120457400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:120453200-120458000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:120453200-120475600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:120453400-120457400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:120453400-120472600	Strong transcription	Osteobl	bone
26	chr1:120453400-120476400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:120453600-120457200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:120453600-120458000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:120453600-120458400	Weak transcription	Brain Substantia Nigra	brain
30	chr1:120453800-120457800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:120454200-120457800	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:120454200-120469200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:120454400-120471600	Strong transcription	NH-A	brain
34	chr1:120454400-120472400	Strong transcription	NHDF-Ad	bronchial
35	chr1:120454400-120472600	Strong transcription	Primary B cells from cord blood	blood
36	chr1:120454600-120458000	Weak transcription	A549	lung
37	chr1:120454800-120472800	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr1:120454800-120473200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:120455000-120457200	Weak transcription	Fetal Heart	heart
40	chr1:120455200-120457200	Weak transcription	Brain Anterior Caudate	brain
41	chr1:120455200-120460000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:120455200-120460000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:120455200-120472000	Strong transcription	Placenta	Placenta
44	chr1:120455400-120460600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:120455400-120467600	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:120455400-120472200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:120455400-120472800	Strong transcription	Primary hematopoietic stem cells	blood
48	chr1:120455400-120472800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:120455400-120472800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:120455400-120472800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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