Variant report

Variant	rs12144421
Chromosome Location	chr1:210426964-210426965
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210425064..210427763-chr1:210429137..210431725,3	MCF-7	breast:
2	chr1:210422501..210425086-chr1:210426035..210428636,3	MCF-7	breast:
3	chr1:210423750..210428226-chr1:210545532..210548687,6	MCF-7	breast:
4	chr1:210023576..210025392-chr1:210424687..210427051,2	MCF-7	breast:
5	chr1:210403920..210408133-chr1:210424303..210428339,6	MCF-7	breast:
6	chr1:210425601..210427456-chr1:210487995..210489554,2	MCF-7	breast:
7	chr1:210404569..210409056-chr1:210423278..210427525,11	MCF-7	breast:
8	chr1:210424408..210427087-chr1:210436244..210439135,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000082497	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11119452	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12116648	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55777740	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56375673	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs590152	0.82[ASN][1000 genomes]
rs591594	0.82[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 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	chr1:210423600-210428000	Enhancers	Fetal Heart	heart
2	chr1:210425400-210427400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:210425400-210433000	Weak transcription	Right Atrium	heart
4	chr1:210425600-210427000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr1:210425600-210427000	Bivalent Enhancer	Fetal Stomach	stomach
6	chr1:210425600-210435400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:210425800-210428200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:210425800-210430600	Weak transcription	HMEC	breast
9	chr1:210425800-210435400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:210426200-210435200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:210426400-210427000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:210426400-210427200	Enhancers	Brain Germinal Matrix	brain
13	chr1:210426400-210433000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:210426600-210427000	Enhancers	Thymus	Thymus
15	chr1:210426600-210427200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:210426600-210427200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr1:210426600-210427400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr1:210426600-210427600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr1:210426600-210427600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:210426600-210427800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:210426600-210430600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:210426800-210427000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr1:210426800-210427000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr1:210426800-210427200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr1:210426800-210427200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
26	chr1:210426800-210427200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:210426800-210427400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr1:210426800-210430600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:210426800-210431200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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