Variant report

Variant	rs59483310
Chromosome Location	chr9:96265600-96265601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96264790..96266601-chr9:96268569..96271456,2	K562	blood:
2	chr9:96261936..96263563-chr9:96264731..96266679,2	MCF-7	breast:
3	chr9:96257221..96259479-chr9:96265119..96266696,2	K562	blood:
4	chr9:96252755..96257145-chr9:96262506..96266410,6	MCF-7	breast:
5	chr9:96211724..96215064-chr9:96263313..96268158,4	MCF-7	breast:
6	chr9:96264104..96265663-chr9:96285613..96287201,2	K562	blood:
7	chr9:96255210..96257203-chr9:96265024..96267794,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000048828	Chromatin interaction
ENSG00000188938	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10429558	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10761236	0.80[ASN][1000 genomes]
rs11975	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12341488	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12552189	0.93[AFR][1000 genomes]
rs12554020	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16909211	0.96[AFR][1000 genomes]
rs3815563	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4552973	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59582399	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60076242	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6479482	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6479483	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6479487	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6479494	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6479495	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7020459	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7023933	0.80[AMR][1000 genomes]
rs7025805	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7028729	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7035657	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7036984	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7048853	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7850322	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7853605	0.82[AMR][1000 genomes]
rs7857183	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7860098	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7862998	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7870210	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs59483310	RP11-165J3.6	cis	Thyroid	GTEx
rs59483310	RP11-165J3.6	cis	Skin Sun Exposed Lower leg	GTEx
rs59483310	RP11-165J3.6	cis	Artery Tibial	GTEx
rs59483310	RP11-165J3.6	cis	Nerve Tibial	GTEx
rs59483310	RP11-165J3.6	cis	Stomach	GTEx
rs59483310	RP11-165J3.6	cis	Esophagus Muscularis	GTEx
rs59483310	FAM120AOS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96229600-96286200	Weak transcription	Fetal Brain Male	brain
2	chr9:96243000-96288000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:96243400-96271200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:96250400-96266000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr9:96254800-96266600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:96255200-96266800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:96255200-96267200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:96255400-96268400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:96255800-96266200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:96255800-96266800	Strong transcription	HepG2	liver
11	chr9:96256400-96265800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:96256400-96267200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:96256600-96265800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr9:96256800-96269800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:96257200-96267200	Strong transcription	Fetal Intestine Large	intestine
16	chr9:96258800-96267200	Strong transcription	Fetal Lung	lung
17	chr9:96260400-96275600	Weak transcription	Esophagus	oesophagus
18	chr9:96260800-96290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:96262200-96289000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:96263000-96268000	Weak transcription	Gastric	stomach
21	chr9:96263200-96267800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:96263200-96270600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:96263200-96285800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr9:96263200-96287600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:96263200-96290200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:96263400-96265600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr9:96263400-96268400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:96263400-96269800	Weak transcription	Spleen	Spleen
29	chr9:96263400-96289000	Weak transcription	Fetal Kidney	kidney
30	chr9:96263600-96265600	Genic enhancers	Hela-S3	cervix
31	chr9:96263600-96265800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:96263600-96275400	Weak transcription	Brain Germinal Matrix	brain
33	chr9:96263600-96280200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr9:96264000-96265600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:96264000-96265600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:96264000-96265600	Strong transcription	Placenta	Placenta
37	chr9:96264000-96265600	Weak transcription	Left Ventricle	heart
38	chr9:96264000-96265600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:96264000-96265800	Weak transcription	Psoas Muscle	Psoas
40	chr9:96264000-96265800	Strong transcription	HMEC	breast
41	chr9:96264000-96266000	Strong transcription	GM12878-XiMat	blood
42	chr9:96264000-96266400	Weak transcription	Lung	lung
43	chr9:96264000-96266400	Weak transcription	Right Atrium	heart
44	chr9:96264000-96266400	Strong transcription	Dnd41	blood
45	chr9:96264000-96266600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr9:96264000-96266600	Strong transcription	K562	blood
47	chr9:96264000-96267000	Weak transcription	Stomach Mucosa	stomach
48	chr9:96264000-96267800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr9:96264000-96267800	Weak transcription	Small Intestine	intestine
50	chr9:96264000-96268000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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