Variant report

Variant	rs61931050
Chromosome Location	chr12:39834173-39834174
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:39707343..39709850-chr12:39833796..39835957,2	K562	blood:
2	chr12:39807290..39809220-chr12:39833749..39836763,3	K562	blood:
3	chr12:39815681..39818065-chr12:39831801..39835369,3	K562	blood:
4	chr12:39834094..39836682-chr12:39930769..39933635,3	K562	blood:
5	chr12:39708256..39710912-chr12:39833762..39835679,2	MCF-7	breast:
6	chr12:39743944..39745971-chr12:39833401..39836053,2	K562	blood:
7	chr12:39785456..39789344-chr12:39830749..39834519,3	K562	blood:
8	chr12:39806434..39808790-chr12:39833185..39835249,2	K562	blood:
9	chr12:39801655..39803705-chr12:39833812..39835448,2	MCF-7	breast:

No data

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17486018	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17557852	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17558692	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17558706	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937873	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937874	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39806600-39834200	Weak transcription	Hela-S3	cervix
2	chr12:39821400-39835600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:39825200-39835600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:39825400-39834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:39829600-39835800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:39829800-39834600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:39830000-39835400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:39830600-39834800	Enhancers	Fetal Heart	heart
9	chr12:39831600-39834400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:39832200-39835600	Enhancers	Liver	Liver
11	chr12:39832400-39834400	Weak transcription	Psoas Muscle	Psoas
12	chr12:39832400-39834400	Active TSS	GM12878-XiMat	blood
13	chr12:39832400-39834400	Enhancers	HepG2	liver
14	chr12:39833000-39834600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:39833000-39835200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:39833600-39834400	Enhancers	Fetal Brain Male	brain
17	chr12:39833600-39834400	Flanking Active TSS	Fetal Brain Female	brain
18	chr12:39833600-39835000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:39833600-39836400	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr12:39833800-39834600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:39833800-39834600	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:39833800-39835200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:39833800-39835600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:39833800-39836200	Active TSS	Brain Germinal Matrix	brain
25	chr12:39833800-39837800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:39834000-39834200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:39834000-39834200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr12:39834000-39834400	Enhancers	Fetal Intestine Small	intestine
29	chr12:39834000-39834600	Enhancers	Left Ventricle	heart
30	chr12:39834000-39834600	Enhancers	NHEK	skin
31	chr12:39834000-39834800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:39834000-39834800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:39834000-39834800	Enhancers	Pancreas	Pancrea
34	chr12:39834000-39835400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr12:39834000-39835400	Flanking Active TSS	A549	lung
36	chr12:39834000-39835400	Flanking Active TSS	K562	blood
37	chr12:39834000-39835600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:39834000-39837600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:39834000-39838000	Active TSS	Right Atrium	heart

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