Variant report

Variant	rs9826141
Chromosome Location	chr3:191050605-191050606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:191050472-191051070	PFSK-1	brain:	n/a	n/a
2	WRNIP1	chr3:191050548-191051305	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:191050604-191050654	HRPEpiC	eye:	n/a
2	chr3:191050604-191050654	HPAEpiC	pulmonary alveolar:	n/a
3	chr3:191050604-191050654	GM06990	blood:	n/a
4	chr3:191050604-191050654	HCPEpiC	choroid plexus:	n/a
5	chr3:191050604-191050654	SK-N-MC	brain:	n/a
6	chr3:191050604-191050654	LNCaP	prostate:	n/a
7	chr3:191050604-191050654	NB4	blood:	n/a
8	chr3:191050604-191050654	SK-N-SH	brain:	n/a
9	chr3:191050604-191050654	GM12891	blood:	n/a
10	chr3:191050604-191050654	PANC-1	pancreas:	n/a
11	chr3:191050604-191050654	NH-A	brain:	n/a
12	chr3:191050604-191050654	HAEpiC	amniotic membrane:	n/a
13	chr3:191050604-191050654	RPTEC	kidney:	n/a
14	chr3:191050604-191050654	PrEC	prostate:	n/a
15	chr3:191050604-191050654	T-47D	breast:	n/a
16	chr3:191050604-191050654	ovcar-3	ovarian:	n/a
17	chr3:191050604-191050654	HL-60	blood:	n/a
18	chr3:191050604-191050654	HCM	heart:	n/a
19	chr3:191050604-191050654	NHBE	bronchial:	n/a
20	chr3:191050604-191050654	AG04449	skin:	fetal
21	chr3:191050604-191050654	SAEC	small airway:	n/a
22	chr3:191050604-191050654	K562	blood:	n/a
23	chr3:191050604-191050654	AoSMC	blood vessel:	n/a
24	chr3:191050604-191050654	HRE	kidney:	n/a
25	chr3:191050604-191050654	MCF-7	breast:	n/a
26	chr3:191050604-191050654	Hela-S3	cervix:	n/a
27	chr3:191050604-191050654	Jurkat	blood:	n/a
28	chr3:191050604-191050654	BE2_C	brain:	n/a
29	chr3:191050604-191050654	A549	lung:	n/a
30	chr3:191050604-191050654	HCT-116	colon:	n/a
31	chr3:191050604-191050654	PFSK-1	brain:	n/a
32	chr3:191050604-191050654	Caco-2	colon:	n/a
33	chr3:191050604-191050654	HMEC	breast:	n/a
34	chr3:191050604-191050654	SK-N-SH_RA	brain:	n/a
35	chr3:191050604-191050654	ProgFib	skin:	n/a
36	chr3:191050604-191050654	ECC-1	luminal epithelium:	n/a
37	chr3:191050604-191050654	HEEpiC	esophagus:	n/a
38	chr3:191050604-191050654	IMR90	lung:	fetal
39	chr3:191050604-191050654	SKMC	muscle:	n/a
40	chr3:191050604-191050654	GM12878	blood:	n/a
41	chr3:191050604-191050654	AG04450	lung:	fetal
42	chr3:191050604-191050654	NHDF-neo	bronchial:	n/a
43	chr3:191050604-191050654	GM12892	blood:	n/a
44	chr3:191050604-191050654	Hepatocyte	liver:	n/a
45	chr3:191050604-191050654	HEK293	kidney:	embryo
46	chr3:191050604-191050654	AG10803	skin:	n/a
47	chr3:191050604-191050654	HCF	heart:	n/a
48	chr3:191050604-191050654	HRCEpiC	kidney:	n/a
49	chr3:191050604-191050654	NT2-D1	testis:	n/a
50	chr3:191050604-191050654	U87	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:191049478..191053328-chr3:191074760..191077632,3	K562	blood:
2	chr3:191049298..191052407-chr3:191074621..191077632,4	K562	blood:
3	chr3:191048783..191051594-chr3:191052862..191055527,3	MCF-7	breast:
4	chr3:191030743..191032266-chr3:191048762..191051723,2	K562	blood:

No data

Variant related genes	Relation type
UTS2B	TF binding region
UTS2B	CpG island

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13326246	0.95[EUR][1000 genomes]
rs13434281	0.96[EUR][1000 genomes]
rs17545865	0.94[EUR][1000 genomes]
rs17754685	0.96[EUR][1000 genomes]
rs17811727	0.96[EUR][1000 genomes]
rs2164237	0.89[EUR][1000 genomes]
rs28368295	0.94[EUR][1000 genomes]
rs28448537	0.94[EUR][1000 genomes]
rs28502671	0.95[EUR][1000 genomes]
rs28510847	0.95[EUR][1000 genomes]
rs4677634	0.95[EUR][1000 genomes]
rs4687210	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9290985	0.94[EUR][1000 genomes]
rs980320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs980321	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9825936	0.96[EUR][1000 genomes]
rs9827142	0.96[EUR][1000 genomes]
rs9839989	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9844109	0.96[EUR][1000 genomes]
rs9855282	0.95[EUR][1000 genomes]
rs9868286	0.95[EUR][1000 genomes]
rs9868495	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv878101	chr3:190891939-191059322	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv4169	chr3:191036298-191063465	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv980108	chr3:191047936-191051389	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9826141	CCDC50	cis	Nerve Tibial	GTEx
rs9826141	CCDC50	cis	Esophagus Muscularis	GTEx
rs9826141	CCDC50	cis	Adipose Subcutaneous	GTEx
rs9826141	CCDC50	cis	Thyroid	GTEx
rs9826141	CCDC50	cis	Artery Tibial	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191048400-191050800	Weak transcription	Spleen	Spleen
2	chr3:191048800-191051800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:191049000-191050800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:191049000-191050800	Enhancers	Fetal Stomach	stomach
5	chr3:191049000-191058600	Weak transcription	Left Ventricle	heart
6	chr3:191049200-191050800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:191049200-191051000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr3:191049200-191051400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:191049200-191051400	Enhancers	Brain Anterior Caudate	brain
10	chr3:191049200-191051400	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:191049200-191060600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:191049400-191051200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr3:191049400-191051400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:191049400-191051400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr3:191049400-191051600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:191049400-191051600	Enhancers	Fetal Brain Male	brain
17	chr3:191049400-191052000	Enhancers	Colon Smooth Muscle	Colon
18	chr3:191049400-191052200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:191049400-191052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:191049400-191057600	Enhancers	Primary B cells from peripheral blood	blood
21	chr3:191049600-191050800	Weak transcription	Primary T cells from cord blood	blood
22	chr3:191049600-191051000	Flanking Active TSS	HUVEC	blood vessel
23	chr3:191049600-191051400	Enhancers	Fetal Heart	heart
24	chr3:191049600-191051600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr3:191049600-191052200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:191049800-191051000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr3:191049800-191051000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:191049800-191051000	Flanking Active TSS	NHLF	lung
29	chr3:191049800-191051400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:191049800-191051400	Enhancers	Ovary	ovary
31	chr3:191049800-191051400	Enhancers	NHDF-Ad	bronchial
32	chr3:191049800-191051600	Enhancers	Brain Hippocampus Middle	brain
33	chr3:191049800-191051600	Flanking Active TSS	GM12878-XiMat	blood
34	chr3:191049800-191061600	Weak transcription	HSMMtube	muscle
35	chr3:191050000-191050800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:191050000-191051000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:191050000-191051000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr3:191050000-191051000	Enhancers	HMEC	breast
39	chr3:191050000-191051000	Enhancers	NH-A	brain
40	chr3:191050000-191051200	Enhancers	A549	lung
41	chr3:191050000-191051400	Enhancers	Hela-S3	cervix
42	chr3:191050000-191051800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:191050000-191052400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:191050000-191053200	Enhancers	Primary B cells from cord blood	blood
45	chr3:191050000-191053200	Enhancers	K562	blood
46	chr3:191050000-191055600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:191050000-191056400	Weak transcription	Fetal Intestine Small	intestine
48	chr3:191050000-191057200	Weak transcription	Fetal Lung	lung
49	chr3:191050200-191050800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:191050200-191050800	Enhancers	Brain Germinal Matrix	brain

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