Variant report

Variant	rs1241233
Chromosome Location	chr12:116944480-116944481
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	chr12:116943072..116945743-chr12:117039366..117041715,2	MCF-7	breast:
2	chr12:116944025..116944825-chr5:179159687..179160277,2	HCT-116	colon:
3	chr12:116943203..116945555-chr12:116947180..116948907,2	MCF-7	breast:
4	chr12:116944325..116946670-chr12:116950393..116952191,2	K562	blood:
5	chr12:116829074..116831886-chr12:116942916..116944906,2	MCF-7	breast:
6	chr12:116942964..116945546-chr12:116956553..116958093,2	MCF-7	breast:
7	chr12:116944325..116946366-chr12:116949368..116951893,2	K562	blood:
8	chr12:116943749..116945743-chr12:117126390..117129079,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161021	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1241229	0.82[EUR][1000 genomes]
rs1922428	1.00[CEU][hapmap]
rs2733638	0.82[EUR][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	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1241233	FBXW8	cis	parietal	SCAN
rs1241233	RBM19	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116933200-116945800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:116940200-116945800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:116940400-116944600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:116941000-116945800	Weak transcription	Gastric	stomach
5	chr12:116941200-116945800	Weak transcription	K562	blood
6	chr12:116941400-116944800	Enhancers	A549	lung
7	chr12:116942600-116944600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:116942600-116944800	Enhancers	HMEC	breast
9	chr12:116942600-116946000	Weak transcription	Right Atrium	heart
10	chr12:116942800-116945000	Enhancers	NHEK	skin
11	chr12:116942800-116946000	Weak transcription	Ovary	ovary
12	chr12:116943400-116944800	Enhancers	NH-A	brain
13	chr12:116943400-116945800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:116943400-116945800	Weak transcription	Osteobl	bone
15	chr12:116943400-116946200	Weak transcription	HSMMtube	muscle
16	chr12:116943600-116945600	Weak transcription	NHDF-Ad	bronchial
17	chr12:116943600-116945800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:116943800-116944800	Enhancers	Fetal Muscle Leg	muscle
19	chr12:116944000-116944600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:116944000-116944600	Active TSS	H9 Cell Line	embryonic stem cell
21	chr12:116944000-116944600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:116944000-116944600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:116944000-116944600	Enhancers	Pancreas	Pancrea
24	chr12:116944000-116944800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:116944000-116944800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:116944000-116945000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:116944200-116944600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:116944200-116944600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:116944200-116944600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:116944200-116944600	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr12:116944200-116944600	Enhancers	Fetal Lung	lung
32	chr12:116944200-116944600	Bivalent Enhancer	Fetal Stomach	stomach
33	chr12:116944200-116944800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr12:116944200-116944800	Enhancers	Fetal Brain Male	brain
35	chr12:116944200-116944800	Enhancers	Fetal Intestine Large	intestine
36	chr12:116944200-116944800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr12:116944200-116944800	Bivalent Enhancer	Fetal Thymus	thymus
38	chr12:116944200-116944800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr12:116944200-116945000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr12:116944400-116944600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr12:116944400-116944600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:116944400-116944600	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr12:116944400-116944600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr12:116944400-116944600	Enhancers	Right Ventricle	heart
45	chr12:116944400-116944600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr12:116944400-116944800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:116944400-116944800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:116944400-116944800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:116944400-116944800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr12:116944400-116944800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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