Variant report

Variant	rs9483639
Chromosome Location	chr6:134309364-134309365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:134304345..134307619-chr6:134307784..134311242,6	K562	blood:
2	chr6:134307763..134310041-chr6:134313958..134317124,3	K562	blood:
3	chr6:134308615..134311240-chr6:134311947..134314798,2	MCF-7	breast:
4	chr6:134292321..134294541-chr6:134307112..134309722,2	K562	blood:
5	chr6:134293580..134296132-chr6:134309183..134311272,2	K562	blood:
6	chr6:134307630..134309585-chr6:134323063..134324734,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBPL1-3	chr6:134309210-134311566	NONHSAT115011

No data

Variant related genes	Relation type
ENSG00000028839	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2239558	0.92[EUR][1000 genomes]
rs2273097	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs34569027	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3777894	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3777896	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777899	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs41286224	0.98[EUR][1000 genomes]
rs4896017	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs56011629	0.96[EUR][1000 genomes]
rs57486657	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60898069	0.96[EUR][1000 genomes]
rs6902440	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs73548792	0.96[EUR][1000 genomes]
rs73774169	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs73774170	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9483631	0.96[EUR][1000 genomes]
rs9483632	0.90[EUR][1000 genomes]
rs9483634	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483635	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493768	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493770	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9493771	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493772	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493773	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493774	0.96[EUR][1000 genomes]
rs9493777	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493780	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493786	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9483639	TBPL1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134276600-134314000	Weak transcription	Thymus	Thymus
2	chr6:134280600-134312200	Weak transcription	Lung	lung
3	chr6:134285000-134316600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:134288200-134311800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:134290800-134316400	Weak transcription	Esophagus	oesophagus
6	chr6:134295000-134313800	Weak transcription	Spleen	Spleen
7	chr6:134295200-134311800	Weak transcription	Brain Germinal Matrix	brain
8	chr6:134297000-134318000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:134299400-134311800	Weak transcription	Gastric	stomach
10	chr6:134299400-134312000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:134299400-134313200	Weak transcription	Psoas Muscle	Psoas
12	chr6:134299400-134313400	Weak transcription	Aorta	Aorta
13	chr6:134299400-134313800	Weak transcription	Right Ventricle	heart
14	chr6:134299600-134310200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:134299800-134312000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:134299800-134313600	Weak transcription	Fetal Heart	heart
17	chr6:134299800-134314000	Weak transcription	Fetal Brain Male	brain
18	chr6:134300400-134312200	Weak transcription	Small Intestine	intestine
19	chr6:134300400-134315400	Weak transcription	Fetal Intestine Small	intestine
20	chr6:134300600-134312000	Weak transcription	NHLF	lung
21	chr6:134301000-134312400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:134302800-134324000	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:134303000-134309400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr6:134303200-134312200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:134304400-134312000	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:134304800-134311800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:134304800-134311800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:134304800-134311800	Weak transcription	NHEK	skin
29	chr6:134304800-134312600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:134304800-134313800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:134304800-134314400	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:134304800-134315600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:134304800-134324000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:134304800-134331000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:134305000-134309400	Strong transcription	K562	blood
36	chr6:134305000-134309600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr6:134305000-134309600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:134305000-134310400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:134305000-134311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:134305000-134311800	Weak transcription	Pancreas	Pancrea
41	chr6:134305000-134314000	Weak transcription	Brain Angular Gyrus	brain
42	chr6:134305000-134314000	Weak transcription	Brain Substantia Nigra	brain
43	chr6:134305000-134328400	Weak transcription	Fetal Stomach	stomach
44	chr6:134305200-134310800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr6:134305200-134311800	Weak transcription	A549	lung
46	chr6:134305200-134312200	Weak transcription	Hela-S3	cervix
47	chr6:134305600-134310400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:134305800-134310000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:134305800-134310200	Strong transcription	Dnd41	blood
50	chr6:134306000-134312000	Weak transcription	HepG2	liver

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