Variant report

Variant	rs16908471
Chromosome Location	chr9:95371666-95371667
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	POLR2A	chr9:95371335-95372003	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr9:95371389-95371844	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr9:95371503-95371865	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr9:95371520-95371670	WERI-Rb-1	eye:	n/a	n/a
5	POLR2A	chr9:95371425-95371817	H1-neurons	neurons:	n/a	n/a
6	MAX	chr9:95370707-95371798	HepG2	liver:	n/a	n/a
7	REST	chr9:95371271-95371959	H1-neurons	neurons:	n/a	chr9:95371276-95371289 chr9:95371842-95371855
8	POLR2A	chr9:95371393-95371780	GM12878	blood:	n/a	n/a
9	ZNF143	chr9:95371582-95371669	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr9:95371636-95371744	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr9:95371294-95371966	K562	blood:	n/a	n/a
12	MAX	chr9:95371445-95371763	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr9:95371471-95371728	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr9:95371472-95371772	MCF-7	breast:	n/a	n/a
15	POLR2A	chr9:95371281-95371759	K562	blood:	n/a	n/a
16	MXI1	chr9:95371518-95371710	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95368898..95371763-chr9:95431399..95433755,2	MCF-7	breast:
2	chr9:95371374..95373769-chr9:95381769..95384696,2	K562	blood:
3	chr9:95369063..95371950-chr9:95374087..95377322,4	K562	blood:

Variant related genes	Relation type
CENPP	TF binding region
ENSG00000127080	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1007346	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992386	0.83[AMR][1000 genomes]
rs10992389	0.81[AMR][1000 genomes]
rs12238865	0.82[AMR][1000 genomes]
rs2101775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs754601	0.81[AMR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16908471	ASPA	trans	lymphoblastoid	seeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95362800-95373000	Weak transcription	HMEC	breast
2	chr9:95363400-95374000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:95363400-95396000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:95364000-95372800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:95364400-95372800	Weak transcription	NHEK	skin
6	chr9:95366200-95373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:95366400-95375000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:95366600-95373600	Weak transcription	Thymus	Thymus
9	chr9:95367400-95373800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:95367400-95380600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:95368600-95371800	Enhancers	Fetal Kidney	kidney
12	chr9:95368600-95372000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:95368600-95372000	Enhancers	Colon Smooth Muscle	Colon
14	chr9:95369000-95372800	Enhancers	Fetal Muscle Leg	muscle
15	chr9:95369000-95373200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr9:95369200-95372000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:95369200-95372200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:95369400-95372000	Enhancers	Brain Hippocampus Middle	brain
19	chr9:95369400-95372000	Enhancers	Rectal Smooth Muscle	rectum
20	chr9:95369400-95372600	Enhancers	Fetal Stomach	stomach
21	chr9:95369400-95372800	Enhancers	Adipose Nuclei	Adipose
22	chr9:95369400-95373800	Enhancers	NHDF-Ad	bronchial
23	chr9:95369600-95371800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:95369600-95371800	Enhancers	Brain Angular Gyrus	brain
25	chr9:95369600-95372000	Enhancers	Brain Anterior Caudate	brain
26	chr9:95369600-95372400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr9:95369600-95373000	Weak transcription	Small Intestine	intestine
28	chr9:95369600-95373200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr9:95369800-95372000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr9:95369800-95374200	Weak transcription	Liver	Liver
31	chr9:95369800-95374200	Weak transcription	GM12878-XiMat	blood
32	chr9:95370000-95371800	Enhancers	Aorta	Aorta
33	chr9:95370000-95371800	Enhancers	Pancreas	Pancrea
34	chr9:95370000-95372000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:95370000-95372000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr9:95370000-95372000	Enhancers	Fetal Lung	lung
37	chr9:95370000-95372800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:95370200-95371800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:95370200-95372000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:95370200-95372000	Enhancers	Brain Cingulate Gyrus	brain
41	chr9:95370200-95372200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:95370200-95372200	Enhancers	HSMMtube	muscle
43	chr9:95370200-95372800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:95370200-95373000	Enhancers	Fetal Muscle Trunk	muscle
45	chr9:95370200-95376200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:95370400-95372000	Enhancers	Colonic Mucosa	Colon
47	chr9:95370400-95372000	Enhancers	Placenta	Placenta
48	chr9:95370400-95373000	Weak transcription	Lung	lung
49	chr9:95370400-95373000	Weak transcription	Dnd41	blood
50	chr9:95370400-95373200	Weak transcription	Fetal Intestine Large	intestine

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