Variant report

Variant	rs17369123
Chromosome Location	chr1:172355841-172355842
allele	C/T
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	FOXA1	chr1:172355836-172356249	HepG2	liver:	n/a	chr1:172356118-172356130
2	CEBPB	chr1:172355818-172356118	A549	lung:	n/a	chr1:172355966-172355977
3	CEBPB	chr1:172355760-172356156	HepG2	liver:	n/a	chr1:172355966-172355977
4	CEBPB	chr1:172355831-172356110	IMR90	lung:	n/a	chr1:172355966-172355977

No.	Distal block	Cell Line	Cell type
1	chr1:172352277..172354230-chr1:172354543..172356133,2	K562	blood:
2	chr1:172348750..172351497-chr1:172354142..172356415,3	K562	blood:
3	chr1:172348336..172351497-chr1:172353137..172356177,3	K562	blood:

Variant related genes	Relation type
DNM3	TF binding region
ENSG00000135845	Chromatin interaction

rs_ID	r²[population]
rs1052256	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1132148	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2001132	0.85[CEU][hapmap]
rs2213738	0.84[CEU][hapmap]
rs4244193	0.84[CEU][hapmap]
rs4244194	0.84[CEU][hapmap]
rs4916187	0.84[CEU][hapmap]
rs4916261	0.85[CEU][hapmap]
rs61806089	0.84[AMR][1000 genomes]
rs61806090	0.84[AMR][1000 genomes]
rs61806091	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6674018	0.84[AMR][1000 genomes]
rs739249	0.84[CEU][hapmap]
rs7515895	0.84[CEU][hapmap]
rs7518300	0.84[CEU][hapmap]
rs7522692	0.84[CEU][hapmap]
rs7538417	0.84[CEU][hapmap]
rs7544376	0.85[CEU][hapmap]
rs9425330	0.84[CEU][hapmap]

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172343600-172359800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:172344800-172357800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:172344800-172359000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:172346600-172367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:172347400-172357600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:172349600-172356400	Enhancers	Fetal Kidney	kidney
7	chr1:172349600-172362000	Weak transcription	Left Ventricle	heart
8	chr1:172349800-172363400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:172350400-172357600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:172350400-172359400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:172350400-172362400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:172350400-172362600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:172351400-172356800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:172351400-172357800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:172351400-172363000	Weak transcription	A549	lung
16	chr1:172351800-172359400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:172351800-172363400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:172352200-172359400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:172352200-172360000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:172352200-172363200	Weak transcription	Fetal Intestine Large	intestine
21	chr1:172352400-172359400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:172352400-172360000	Weak transcription	Primary T cells from cord blood	blood
23	chr1:172352400-172360000	Weak transcription	Small Intestine	intestine
24	chr1:172352400-172386400	Weak transcription	Psoas Muscle	Psoas
25	chr1:172352800-172359400	Weak transcription	Brain Anterior Caudate	brain
26	chr1:172353000-172359400	Weak transcription	Aorta	Aorta
27	chr1:172353000-172362600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:172353600-172359000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:172353600-172359200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:172353600-172359400	Weak transcription	Fetal Lung	lung
31	chr1:172353600-172359400	Weak transcription	Fetal Stomach	stomach
32	chr1:172353600-172359400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:172353600-172359600	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:172353600-172359800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:172353600-172360000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:172353600-172366400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:172353800-172359000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:172353800-172359000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:172353800-172359000	Weak transcription	Fetal Heart	heart
40	chr1:172353800-172359000	Weak transcription	HSMMtube	muscle
41	chr1:172353800-172359200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:172353800-172359200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:172353800-172359200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:172353800-172359200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:172353800-172359200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:172353800-172359400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:172353800-172359400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:172353800-172359400	Weak transcription	Ovary	ovary
49	chr1:172354000-172358800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:172354000-172359400	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links