Variant report

Variant	rs12122955
Chromosome Location	chr1:213152391-213152392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213143678..213151221-chr1:213151923..213156487,9	K562	blood:
2	chr1:213151581..213154510-chr1:213163041..213165443,2	MCF-7	breast:
3	chr1:213141379..213143091-chr1:213151749..213153627,2	K562	blood:
4	chr1:213151653..213154196-chr1:213177851..213179470,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1045868	0.80[ASN][1000 genomes]
rs10735511	0.97[ASN][1000 genomes]
rs10746440	0.97[ASN][1000 genomes]
rs10779597	0.93[ASN][1000 genomes]
rs10779598	0.92[ASN][1000 genomes]
rs10864031	0.95[ASN][1000 genomes]
rs10864032	0.83[ASN][1000 genomes]
rs10864033	0.81[ASN][1000 genomes]
rs11120070	0.87[ASN][1000 genomes]
rs11120076	0.80[ASN][1000 genomes]
rs11586518	0.97[ASN][1000 genomes]
rs12026770	0.81[ASN][1000 genomes]
rs12563167	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7537285	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv11434	chr1:213131581-213156027	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213126400-213152400	Strong transcription	Fetal Stomach	stomach
2	chr1:213126800-213154400	Strong transcription	Fetal Brain Female	brain
3	chr1:213127000-213153200	Strong transcription	Fetal Lung	lung
4	chr1:213130000-213153800	Weak transcription	Thymus	Thymus
5	chr1:213131400-213153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:213133200-213153400	Weak transcription	Lung	lung
7	chr1:213133400-213153800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:213133600-213161600	Weak transcription	Fetal Intestine Large	intestine
9	chr1:213137800-213154200	Strong transcription	Brain Germinal Matrix	brain
10	chr1:213141400-213154000	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr1:213141600-213154600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:213141800-213153400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:213142400-213154400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:213142800-213153400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:213143800-213153600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:213144800-213152400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:213146400-213153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:213146600-213153600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:213146600-213157200	Genic enhancers	Fetal Muscle Leg	muscle
20	chr1:213146800-213153600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:213147000-213152800	Weak transcription	HSMM	muscle
22	chr1:213147000-213154600	Weak transcription	Esophagus	oesophagus
23	chr1:213148400-213154200	Weak transcription	Fetal Brain Male	brain
24	chr1:213148400-213155400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:213148400-213165400	Weak transcription	Fetal Kidney	kidney
26	chr1:213148800-213153200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:213149800-213156000	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr1:213150000-213153600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:213150200-213153000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:213150400-213152400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr1:213150400-213152800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:213150400-213153400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:213150400-213163000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:213150600-213152600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:213150600-213153800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:213150800-213155400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:213151000-213153400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr1:213151400-213154200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:213151600-213152400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:213151600-213152400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:213151600-213152600	Strong transcription	Fetal Intestine Small	intestine
42	chr1:213151600-213153600	Weak transcription	NH-A	brain
43	chr1:213151600-213156200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:213151600-213167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:213151800-213152400	Genic enhancers	GM12878-XiMat	blood
46	chr1:213151800-213157000	Enhancers	HSMMtube	muscle
47	chr1:213151800-213169400	Weak transcription	Colonic Mucosa	Colon
48	chr1:213152000-213152400	Weak transcription	Fetal Thymus	thymus
49	chr1:213152000-213152800	Weak transcription	Fetal Heart	heart
50	chr1:213152000-213153200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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