Variant report

Variant	rs1318987
Chromosome Location	chr2:74086687-74086688
allele	G/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	JUND	chr2:74086265-74087453	SK-N-SH	brain:	n/a	chr2:74086988-74086999 chr2:74087006-74087017 chr2:74086990-74086998 chr2:74086991-74086998 chr2:74086989-74086999 chr2:74086990-74086999
2	RCOR1	chr2:74086684-74087808	IMR90	lung:	n/a	n/a
3	FOSL2	chr2:74086674-74087344	SK-N-SH	brain:	n/a	chr2:74086990-74086998 chr2:74086991-74086998 chr2:74086989-74086999 chr2:74086990-74086999
4	FOSL1	chr2:74086659-74087302	HCT-116	colon:	n/a	chr2:74086990-74086998 chr2:74086991-74086998 chr2:74086989-74086999 chr2:74086990-74086999
5	FOS	chr2:74086619-74087216	MCF10A-Er-Src	breast:	n/a	chr2:74086988-74086999 chr2:74086990-74086998 chr2:74087006-74087017 chr2:74086991-74086998 chr2:74086989-74086999 chr2:74086990-74086999

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74055378..74057466-chr2:74084909..74087959,3	K562	blood:

Variant related genes	Relation type
STAMBP	TF binding region
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10188058	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1025424	0.92[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12464028	1.00[ASN][1000 genomes]
rs17725971	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs2567601	1.00[JPT][hapmap]
rs2567603	1.00[JPT][hapmap]
rs34240219	1.00[ASN][1000 genomes]
rs35058061	0.96[EUR][1000 genomes]
rs62150710	0.96[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1318987	ALMS1P	cis	cerebellum	SCAN
rs1318987	ALMS1	cis	parietal	SCAN
rs1318987	ALMS1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74057000-74093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:74065000-74094400	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:74065600-74094400	Strong transcription	Dnd41	blood
4	chr2:74066400-74091600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:74066400-74094400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr2:74066600-74094200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:74066600-74094400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:74066800-74094200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:74067000-74094200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:74068600-74094200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:74068800-74094400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:74068800-74094400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:74070400-74090000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:74070600-74094200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:74070800-74089600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:74070800-74093000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:74070800-74094200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:74070800-74094200	Strong transcription	Liver	Liver
19	chr2:74070800-74094400	Strong transcription	Placenta	Placenta
20	chr2:74070800-74094400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:74071000-74094400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:74071200-74093800	Strong transcription	HepG2	liver
23	chr2:74071200-74094200	Strong transcription	Adipose Nuclei	Adipose
24	chr2:74071200-74094200	Strong transcription	Fetal Brain Female	brain
25	chr2:74071200-74094200	Strong transcription	Fetal Thymus	thymus
26	chr2:74071200-74094400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:74071400-74094000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr2:74071400-74094200	Strong transcription	Primary T cells from cord blood	blood
29	chr2:74071600-74089600	Strong transcription	Fetal Stomach	stomach
30	chr2:74071600-74094200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:74071600-74094200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:74071600-74094200	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:74071600-74094200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:74071600-74094200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:74071600-74094600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:74071800-74088800	Strong transcription	Brain Substantia Nigra	brain
37	chr2:74071800-74094200	Strong transcription	Thymus	Thymus
38	chr2:74071800-74094400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:74072200-74094400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:74072200-74094400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:74072200-74094400	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr2:74073000-74088200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:74076000-74094200	Strong transcription	Primary B cells from cord blood	blood
44	chr2:74078200-74101000	Weak transcription	Small Intestine	intestine
45	chr2:74078600-74094400	Strong transcription	Fetal Intestine Large	intestine
46	chr2:74079200-74088600	Strong transcription	Fetal Lung	lung
47	chr2:74079400-74087600	Strong transcription	Fetal Intestine Small	intestine
48	chr2:74079600-74094200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:74079800-74087000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:74079800-74090000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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