Variant report

Variant	rs12128609
Chromosome Location	chr1:212312944-212312945
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212311637..212315507-chr1:212320435..212322223,3	K562	blood:
2	chr1:212311637..212314238-chr1:212320435..212322223,2	K562	blood:
3	chr1:212293556..212296548-chr1:212311926..212314352,2	K562	blood:
4	chr1:212310229..212317191-chr1:212455789..212461677,10	MCF-7	breast:
5	chr1:212311249..212313594-chr1:212314365..212316630,2	K562	blood:
6	chr1:212311797..212314623-chr1:212318493..212322372,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12120122	1.00[CEU][hapmap]
rs12120150	1.00[CEU][hapmap]
rs12121167	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12125796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12131323	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12139237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12145757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018334	1.00[CEU][hapmap]
rs17018421	1.00[CEU][hapmap]
rs17018532	1.00[CEU][hapmap]
rs2358451	0.84[ASN][1000 genomes]
rs35720341	0.87[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212287400-212320600	Weak transcription	A549	lung
2	chr1:212292600-212314600	Weak transcription	Thymus	Thymus
3	chr1:212293200-212313200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:212299000-212313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:212299200-212314200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:212300000-212320800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:212300800-212314800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:212301000-212321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:212304000-212316400	Weak transcription	Fetal Stomach	stomach
10	chr1:212307200-212313000	Weak transcription	Dnd41	blood
11	chr1:212308400-212313000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:212309000-212320800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:212309000-212320800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:212309000-212321000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:212311800-212313400	Enhancers	Lung	lung
17	chr1:212311800-212314800	Enhancers	K562	blood
18	chr1:212312000-212313400	Enhancers	Adipose Nuclei	Adipose
19	chr1:212312200-212315400	Enhancers	Hela-S3	cervix
20	chr1:212312400-212313200	Weak transcription	Pancreas	Pancrea
21	chr1:212312400-212313200	Weak transcription	Right Atrium	heart
22	chr1:212312600-212313200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:212312600-212313400	Enhancers	Left Ventricle	heart
24	chr1:212312600-212313400	Enhancers	Stomach Mucosa	stomach
25	chr1:212312800-212313000	Enhancers	NHEK	skin
26	chr1:212312800-212313200	Enhancers	Fetal Muscle Leg	muscle
27	chr1:212312800-212313400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:212312800-212313400	Enhancers	Fetal Heart	heart
29	chr1:212312800-212313400	Enhancers	Sigmoid Colon	Sigmoid Colon

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