Variant report

Variant	rs60022764
Chromosome Location	chr12:56329198-56329199
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: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	chr12:56328814..56332506-chr12:56359675..56362006,3	MCF-7	breast:
2	chr12:56318132..56330507-chr12:56363672..56369798,22	MCF-7	breast:
3	chr12:56217992..56226798-chr12:56311494..56331042,68	MCF-7	breast:
4	chr12:56217492..56232243-chr12:56318854..56330686,48	MCF-7	breast:
5	chr12:56225390..56228065-chr12:56328678..56330910,3	K562	blood:
6	chr12:56326452..56329346-chr12:56360017..56362575,2	K562	blood:
7	chr12:56121086..56122985-chr12:56327062..56330070,3	MCF-7	breast:
8	chr12:56319350..56329795-chr12:56348492..56353182,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111540	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000185664	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11831133	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336402	0.82[AFR][1000 genomes];1.00[AMR][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56325000-56330200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
2	chr12:56326000-56330400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
3	chr12:56326200-56330400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
4	chr12:56326400-56329400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
5	chr12:56326400-56330000	Transcr. at gene 5' and 3'	NHEK	skin
6	chr12:56326400-56331800	Weak transcription	Gastric	stomach
7	chr12:56326400-56345000	Weak transcription	Ovary	ovary
8	chr12:56326600-56329600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:56326600-56329600	Weak transcription	Left Ventricle	heart
10	chr12:56326800-56329200	Weak transcription	Brain Anterior Caudate	brain
11	chr12:56326800-56329200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:56326800-56329200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:56326800-56329600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:56326800-56333600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:56326800-56333800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:56326800-56333800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:56326800-56333800	Weak transcription	K562	blood
18	chr12:56326800-56334000	Weak transcription	Lung	lung
19	chr12:56326800-56335800	Weak transcription	Aorta	Aorta
20	chr12:56327000-56329200	Enhancers	NHLF	lung
21	chr12:56327000-56330200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:56327000-56330200	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:56327000-56333600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:56327000-56333800	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:56327200-56329200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:56327200-56329200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:56327200-56329200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:56327200-56329200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:56327200-56329200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:56327200-56330000	Enhancers	NHDF-Ad	bronchial
31	chr12:56327400-56330000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:56327600-56329200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:56327600-56329200	Weak transcription	NH-A	brain
34	chr12:56327600-56329600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr12:56327600-56330000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:56327600-56331200	Weak transcription	HSMMtube	muscle
37	chr12:56327600-56331400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:56327600-56333200	Weak transcription	Stomach Mucosa	stomach
39	chr12:56327600-56333400	Weak transcription	HSMM	muscle
40	chr12:56327600-56333600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:56327600-56333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:56327600-56333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:56327800-56329200	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
44	chr12:56327800-56330400	Weak transcription	GM12878-XiMat	blood
45	chr12:56327800-56330600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
46	chr12:56327800-56330800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:56327800-56331400	Genic enhancers	Dnd41	blood
48	chr12:56327800-56333600	Weak transcription	A549	lung
49	chr12:56327800-56333800	Weak transcription	HUVEC	blood vessel
50	chr12:56328000-56329200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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