Variant report

Variant	rs7958005
Chromosome Location	chr12:21477837-21477838
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr12:21477599-21477909	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:21477626-21477864	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr12:21477624-21477862	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr12:21477515-21477923	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr12:21477445-21477885	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr12:21477627-21477967	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP1	chr12:21477560-21477937	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21476298..21478074-chr12:21570042..21572071,2	K562	blood:

Variant related genes	Relation type
SLCO1A2	TF binding region
ENSG00000084453	Chromatin interaction

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

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

rs_ID	r²[population]
rs10505872	1.00[MEX][hapmap]
rs17333047	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs4078	1.00[MEX][hapmap]
rs61927805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs722994	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs7974575	1.00[MEX][hapmap]
rs991262	1.00[ASW][hapmap]

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	nsv557735	chr12:21443282-21538957	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21473800-21478200	Active TSS	Brain Anterior Caudate	brain
2	chr12:21474800-21478000	Active TSS	Brain Substantia Nigra	brain
3	chr12:21475400-21478000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr12:21476400-21478200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:21476800-21478200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:21476800-21478200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:21477000-21478000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:21477000-21478000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:21477000-21478600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:21477600-21478000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:21477600-21478200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:21477600-21478200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:21477800-21478000	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr12:21477800-21478200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr12:21477800-21478200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:21477800-21478200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr12:21477800-21478200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr12:21477800-21478200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr12:21477800-21478200	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr12:21477800-21478200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr12:21477800-21478400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:21477800-21478400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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