Variant report

Variant	rs12727145
Chromosome Location	chr1:112940638-112940639
allele	C/T
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:112936667..112940657-chr1:113004024..113011069,20	MCF-7	breast:
2	chr1:112940490..112942523-chr1:113247198..113249596,2	MCF-7	breast:
3	chr1:112940392..112943025-chr1:112944284..112946532,3	K562	blood:
4	chr1:112930309..112940640-chr1:113155859..113164847,24	MCF-7	breast:
5	chr1:112935548..112944315-chr1:113002393..113010397,28	MCF-7	breast:
6	chr1:112940500..112942998-chr1:113216461..113219079,2	MCF-7	breast:
7	chr1:112938761..112941761-chr1:113247568..113249753,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WNT2B-2	chr1:112938881-112941439	NONHSAT005231

No data

Variant related genes	Relation type
ENSG00000007341	Chromatin interaction
ENSG00000155366	Chromatin interaction
ENSG00000155363	Chromatin interaction
ENSG00000134245	Chromatin interaction
ENSG00000116489	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12729635	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12737053	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34961977	1.00[ASN][1000 genomes]
rs34989396	1.00[ASN][1000 genomes]
rs35119735	1.00[ASN][1000 genomes]
rs351366	1.00[ASN][1000 genomes]
rs35735679	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35947845	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71644398	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112938000-112941000	Active TSS	Aorta	Aorta
2	chr1:112938200-112941200	Active TSS	Right Atrium	heart
3	chr1:112938200-112941400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:112938400-112940800	Active TSS	Fetal Intestine Small	intestine
5	chr1:112938400-112941000	Active TSS	Fetal Intestine Large	intestine
6	chr1:112938600-112941200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:112938600-112941200	Active TSS	NHLF	lung
8	chr1:112939400-112940800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:112939400-112940800	Flanking Active TSS	Hela-S3	cervix
10	chr1:112939600-112940800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:112939600-112940800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:112939600-112940800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:112939600-112940800	Flanking Active TSS	Osteobl	bone
14	chr1:112939600-112941000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr1:112939600-112941200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:112939800-112940800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr1:112939800-112941000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:112939800-112942200	Weak transcription	Spleen	Spleen
19	chr1:112939800-112942400	Flanking Active TSS	HUVEC	blood vessel
20	chr1:112939800-112944200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:112939800-112944600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:112940000-112940800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:112940000-112940800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:112940000-112940800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:112940000-112940800	Active TSS	Brain Angular Gyrus	brain
26	chr1:112940000-112940800	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:112940000-112940800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:112940000-112941000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:112940000-112941000	Enhancers	Fetal Lung	lung
30	chr1:112940000-112941000	Enhancers	Dnd41	blood
31	chr1:112940000-112941200	Enhancers	Fetal Kidney	kidney
32	chr1:112940000-112941200	Active TSS	Rectal Smooth Muscle	rectum
33	chr1:112940000-112941200	Flanking Active TSS	NHEK	skin
34	chr1:112940000-112941400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:112940000-112941600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:112940000-112942000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:112940000-112942000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:112940000-112943800	Weak transcription	Brain Substantia Nigra	brain
39	chr1:112940000-112944000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:112940000-112944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:112940000-112944600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:112940000-112945800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:112940000-112950600	Weak transcription	Lung	lung
44	chr1:112940000-112952200	Weak transcription	Esophagus	oesophagus
45	chr1:112940000-112954400	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:112940000-112956400	Weak transcription	Left Ventricle	heart
47	chr1:112940000-112961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:112940200-112940800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:112940200-112940800	Enhancers	HepG2	liver
50	chr1:112940200-112940800	Flanking Active TSS	NH-A	brain

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