Variant report

Variant	rs10489334
Chromosome Location	chr1:174935343-174935344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174845147..174847335-chr1:174934158..174936511,2	K562	blood:
2	chr1:174934109..174936598-chr1:174962086..174965917,3	MCF-7	breast:
3	chr1:174934157..174936495-chr1:174950544..174953349,2	K562	blood:
4	chr1:174934516..174936659-chr1:174945520..174947584,2	MCF-7	breast:
5	chr1:174933583..174936463-chr1:174967523..174970706,3	MCF-7	breast:
6	chr1:174927580..174945830-chr1:174955726..174971213,32	K562	blood:
7	chr1:174932418..174935374-chr1:174964535..174970014,5	K562	blood:

Variant related genes	Relation type
ENSG00000152061	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000252552	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10489331	0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10912852	1.00[EUR][1000 genomes]
rs10912862	1.00[EUR][1000 genomes]
rs10912866	1.00[EUR][1000 genomes]
rs10912869	1.00[EUR][1000 genomes]
rs11806870	0.84[AMR][1000 genomes]
rs12061403	1.00[EUR][1000 genomes]
rs12062145	0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12072529	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075140	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12089375	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376513	1.00[EUR][1000 genomes]
rs16847652	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847670	1.00[EUR][1000 genomes]
rs16847689	1.00[EUR][1000 genomes]
rs16847701	0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1894679	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650677	1.00[EUR][1000 genomes]
rs57512007	1.00[EUR][1000 genomes]
rs58503437	1.00[EUR][1000 genomes]
rs60411387	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6425311	1.00[EUR][1000 genomes]
rs6689751	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74128526	1.00[EUR][1000 genomes]
rs74128530	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:174910800-174957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:174924000-174938200	Weak transcription	Psoas Muscle	Psoas
4	chr1:174924200-174967800	Weak transcription	Brain Germinal Matrix	brain
5	chr1:174924400-174958200	Weak transcription	Fetal Brain Male	brain
6	chr1:174925000-174940800	Weak transcription	Gastric	stomach
7	chr1:174928000-174938200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:174930800-174937800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:174932000-174938400	Enhancers	Fetal Intestine Small	intestine
10	chr1:174932400-174936600	Enhancers	Fetal Lung	lung
11	chr1:174932600-174935400	Enhancers	Stomach Mucosa	stomach
12	chr1:174932600-174941600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:174932800-174937000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:174932800-174937600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:174932800-174938400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:174932800-174939000	Enhancers	Fetal Intestine Large	intestine
17	chr1:174933000-174935400	Flanking Active TSS	K562	blood
18	chr1:174933000-174936000	Enhancers	Brain Anterior Caudate	brain
19	chr1:174933000-174953600	Weak transcription	Fetal Heart	heart
20	chr1:174933200-174935800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr1:174933200-174936000	Enhancers	NHEK	skin
22	chr1:174933400-174935600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:174933400-174935600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr1:174933400-174936000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:174933400-174937600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr1:174933600-174935400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:174933600-174935400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:174933600-174935600	Enhancers	Brain Hippocampus Middle	brain
29	chr1:174933600-174935800	Enhancers	Fetal Kidney	kidney
30	chr1:174933600-174935800	Flanking Active TSS	HSMMtube	muscle
31	chr1:174933600-174936000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:174933600-174936000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr1:174933600-174936000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr1:174933600-174936000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr1:174933600-174936000	Enhancers	Brain Substantia Nigra	brain
36	chr1:174933600-174936200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:174933600-174938800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr1:174933800-174935400	Enhancers	Brain Cingulate Gyrus	brain
39	chr1:174933800-174935400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:174933800-174936000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr1:174933800-174936200	Weak transcription	HUVEC	blood vessel
42	chr1:174933800-174937200	Weak transcription	A549	lung
43	chr1:174934000-174935400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:174934000-174936000	Flanking Active TSS	Dnd41	blood
45	chr1:174934000-174937400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:174934000-174938200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:174934200-174935400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr1:174934200-174935400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr1:174934200-174936000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr1:174934200-174936000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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