Variant report

Variant	rs12406197
Chromosome Location	chr1:179545050-179545051
allele	A/C
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	RAD21	chr1:179544490-179545086	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBP	chr1:179544816-179545061	H1-hESC	embryonic stem cell:	n/a	n/a
3	GABPA	chr1:179544820-179545143	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr1:179544639-179545092	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:179544751-179545277	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr1:179544940-179545109	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179543048..179545135-chr1:179554204..179557043,2	K562	blood:

Variant related genes	Relation type
RNU5F-2P	TF binding region
ENSG00000227141	Chromatin interaction

rs_ID	r²[population]
rs10753200	0.83[EUR][1000 genomes]
rs12403885	0.99[EUR][1000 genomes]
rs12736279	0.94[EUR][1000 genomes]
rs12736545	0.94[EUR][1000 genomes]
rs1328597	0.96[EUR][1000 genomes]
rs1328598	0.96[EUR][1000 genomes]
rs1410589	0.94[EUR][1000 genomes]
rs1590783	0.81[EUR][1000 genomes]
rs1887815	0.92[EUR][1000 genomes]
rs2209919	0.94[EUR][1000 genomes]
rs35427395	0.96[EUR][1000 genomes]
rs36057553	0.99[EUR][1000 genomes]
rs3754133	0.88[EUR][1000 genomes]
rs3765548	0.89[EUR][1000 genomes]
rs3930537	0.88[EUR][1000 genomes]
rs4652418	0.82[EUR][1000 genomes]
rs4652424	0.82[EUR][1000 genomes]
rs4652426	0.91[EUR][1000 genomes]
rs61826364	0.96[EUR][1000 genomes]
rs61826365	0.96[EUR][1000 genomes]
rs61826402	0.91[EUR][1000 genomes]

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179543200-179546400	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr1:179544400-179545400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:179544400-179545400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:179544400-179545600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr1:179544400-179545600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr1:179544400-179545600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:179544400-179545600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:179544600-179545200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:179544600-179545200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:179544600-179545200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:179544600-179545200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr1:179544600-179545200	Enhancers	Pancreas	Pancrea
13	chr1:179544600-179545400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:179544600-179545400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:179544600-179545400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:179544600-179545400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:179544600-179545600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:179544800-179545200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:179544800-179545200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:179544800-179545200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:179544800-179545200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:179544800-179545200	Bivalent Enhancer	Fetal Brain Male	brain
23	chr1:179544800-179545200	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr1:179544800-179545200	Active TSS	Right Ventricle	heart
25	chr1:179544800-179545200	Enhancers	Spleen	Spleen
26	chr1:179544800-179545400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:179544800-179545400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:179544800-179545400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:179544800-179545400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:179544800-179545400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr1:179544800-179545400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:179544800-179545400	Enhancers	Gastric	stomach
33	chr1:179544800-179545400	Bivalent Enhancer	Psoas Muscle	Psoas
34	chr1:179544800-179545400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
35	chr1:179544800-179545600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:179544800-179545800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:179545000-179545200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr1:179545000-179545200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:179545000-179545200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
40	chr1:179545000-179545200	Bivalent Enhancer	Fetal Heart	heart
41	chr1:179545000-179545400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:179545000-179545400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr1:179545000-179545400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
44	chr1:179545000-179545400	Active TSS	Right Atrium	heart
45	chr1:179545000-179545400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
46	chr1:179545000-179545600	Bivalent Enhancer	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links