Variant report

Variant	rs73002090
Chromosome Location	chr1:114618517-114618518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114616664..114618910-chr1:114620600..114622637,2	K562	blood:
2	chr1:114616645..114618527-chr1:114694033..114695750,2	MCF-7	breast:
3	chr1:114609946..114612096-chr1:114617825..114619412,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134207	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs60565055	1.00[AMR][1000 genomes]
rs72998111	1.00[AMR][1000 genomes]
rs72998179	1.00[AMR][1000 genomes]
rs72998192	1.00[AMR][1000 genomes]
rs73000165	1.00[AMR][1000 genomes]
rs73000167	1.00[AMR][1000 genomes]
rs73000171	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv463284	chr1:114585590-114623867	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv547568	chr1:114585590-114623867	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv547569	chr1:114587766-114625425	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114615000-114618800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:114616800-114620200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:114617200-114619600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:114617200-114620200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:114617200-114620200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:114617400-114618800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:114617400-114618800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:114617400-114618800	Enhancers	Fetal Lung	lung
9	chr1:114617400-114619600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:114617400-114620200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:114617600-114619200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:114617600-114619200	Enhancers	GM12878-XiMat	blood
13	chr1:114617600-114619600	Enhancers	Fetal Muscle Leg	muscle
14	chr1:114617800-114618800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:114617800-114619000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:114617800-114619200	Enhancers	Brain Anterior Caudate	brain
17	chr1:114617800-114619600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:114618000-114618800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:114618000-114623400	Weak transcription	Brain Substantia Nigra	brain
20	chr1:114618200-114618600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:114618200-114618600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:114618200-114619000	Enhancers	Brain Hippocampus Middle	brain
23	chr1:114618400-114618800	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links