Variant report

Variant	rs12072529
Chromosome Location	chr1:174937352-174937353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174935689..174937762-chr1:174956514..174958986,2	MCF-7	breast:
2	chr1:174936174..174937775-chr1:174941004..174942610,2	MCF-7	breast:
3	chr1:174937198..174939859-chr1:174967245..174970067,3	MCF-7	breast:
4	chr1:174935930..174937923-chr1:174967731..174970024,2	K562	blood:
5	chr1:174927580..174945830-chr1:174955726..174971213,32	K562	blood:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction
ENSG00000252552	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10489331	0.83[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10489334	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912852	1.00[EUR][1000 genomes]
rs10912862	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10912866	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10912869	1.00[EUR][1000 genomes]
rs11806870	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12061403	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12062145	0.83[ASW][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12075140	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12089375	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376513	1.00[EUR][1000 genomes]
rs16847652	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847670	1.00[EUR][1000 genomes]
rs16847689	1.00[EUR][1000 genomes]
rs16847701	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1894679	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650677	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4651250	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs57512007	1.00[EUR][1000 genomes]
rs58503437	1.00[EUR][1000 genomes]
rs60411387	1.00[EUR][1000 genomes]
rs6425311	1.00[EUR][1000 genomes]
rs6689751	1.00[EUR][1000 genomes]
rs74128526	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74128530	0.85[AFR][1000 genomes];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:108 , 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	chr1:174932600-174941600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:174932800-174937600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:174932800-174938400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:174932800-174939000	Enhancers	Fetal Intestine Large	intestine
14	chr1:174933000-174953600	Weak transcription	Fetal Heart	heart
15	chr1:174933400-174937600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr1:174933600-174938800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr1:174934000-174937400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:174934000-174938200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:174934600-174943800	Weak transcription	Pancreas	Pancrea
20	chr1:174934800-174937600	Enhancers	Liver	Liver
21	chr1:174934800-174940400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:174934800-174943800	Weak transcription	Aorta	Aorta
23	chr1:174935000-174937400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:174935000-174938000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:174935000-174938000	Weak transcription	Thymus	Thymus
26	chr1:174935000-174938200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:174935000-174942200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:174935000-174943800	Weak transcription	Lung	lung
29	chr1:174935000-174959000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:174935000-174964000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:174935000-174967000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:174935200-174937400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:174935200-174937800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:174935200-174938000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:174935200-174938200	Weak transcription	Fetal Stomach	stomach
36	chr1:174935200-174938200	Weak transcription	HMEC	breast
37	chr1:174935200-174938400	Weak transcription	Left Ventricle	heart
38	chr1:174935200-174939000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr1:174935200-174943400	Weak transcription	Brain Angular Gyrus	brain
40	chr1:174935200-174943400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:174935200-174943800	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:174935200-174959000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:174935200-174959600	Weak transcription	Esophagus	oesophagus
44	chr1:174935400-174943600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:174935400-174958400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:174935600-174937400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:174935600-174943800	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:174935800-174937600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr1:174935800-174938600	Enhancers	Adipose Nuclei	Adipose
50	chr1:174935800-174959600	Weak transcription	Fetal Kidney	kidney

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