Variant report

Variant	rs926517
Chromosome Location	chr1:169072731-169072732
allele	C/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	NR3C1	chr1:169072712-169073179	A549	lung:	n/a	chr1:169072885-169072901 chr1:169072886-169072900 chr1:169073019-169073033 chr1:169072885-169072901
2	SMC3	chr1:169072719-169072774	HepG2	liver:	n/a	n/a
3	GATA2	chr1:169072661-169073603	SH-SY5Y	brain:	n/a	n/a
4	NR3C1	chr1:169072718-169073072	A549	lung:	n/a	chr1:169072885-169072901 chr1:169072886-169072900 chr1:169073019-169073033 chr1:169072885-169072901
5	SMARCB1	chr1:169071730-169073071	Hela-S3	cervix:	n/a	chr1:169071978-169071987 chr1:169071979-169071988
6	NR3C1	chr1:169072666-169073208	A549	lung:	n/a	chr1:169072885-169072901 chr1:169072886-169072900 chr1:169073019-169073033 chr1:169072885-169072901
7	NR3C1	chr1:169072655-169073277	A549	lung:	n/a	chr1:169072885-169072901 chr1:169072886-169072900 chr1:169073019-169073033 chr1:169072885-169072901
8	ESRRA	chr1:169071901-169073461	GM12878	blood:	n/a	chr1:169073087-169073103 chr1:169073094-169073104 chr1:169073087-169073103 chr1:169072995-169073005 chr1:169073094-169073104 chr1:169073092-169073108 chr1:169072990-169073004 chr1:169072989-169073005 chr1:169072995-169073004 chr1:169072990-169073009 chr1:169073092-169073104 chr1:169072171-169072184

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169071736..169074539-chr1:169075134..169076733,2	K562	blood:
2	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:

Variant related genes	Relation type
ATP1B1	TF binding region
ENSG00000237707	TF binding region
ENSG00000203601	Chromatin interaction
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1200131	0.86[CHB][hapmap]
rs1892091	0.96[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2051145	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2051146	0.92[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6427176	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs926517	C1orf114	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169068000-169074600	Enhancers	Fetal Heart	heart
2	chr1:169068800-169074600	Enhancers	Fetal Intestine Large	intestine
3	chr1:169068800-169074600	Enhancers	Fetal Intestine Small	intestine
4	chr1:169069000-169072800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:169069200-169074400	Enhancers	HepG2	liver
6	chr1:169070000-169073800	Weak transcription	Gastric	stomach
7	chr1:169070400-169072800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:169070400-169073000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:169070400-169073000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:169070600-169074400	Enhancers	A549	lung
11	chr1:169070600-169074600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:169070800-169073000	Enhancers	Left Ventricle	heart
13	chr1:169070800-169074200	Weak transcription	Liver	Liver
14	chr1:169071000-169073000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:169071000-169074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:169071200-169073000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:169071200-169073600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:169071400-169072800	Enhancers	HMEC	breast
19	chr1:169071400-169073000	Enhancers	Hela-S3	cervix
20	chr1:169071400-169073600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:169071600-169072800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:169071600-169072800	Enhancers	Brain Germinal Matrix	brain
23	chr1:169071600-169072800	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr1:169071600-169072800	Enhancers	Fetal Brain Male	brain
25	chr1:169071600-169073000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr1:169071600-169073000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr1:169071600-169073200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:169071600-169073200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:169071600-169073200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:169071600-169073200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:169071600-169074400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:169071600-169074400	Enhancers	Stomach Mucosa	stomach
33	chr1:169071600-169074600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:169071800-169073000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:169071800-169073000	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr1:169071800-169073000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr1:169071800-169073000	Enhancers	Right Ventricle	heart
38	chr1:169071800-169073800	Enhancers	Spleen	Spleen
39	chr1:169072000-169072800	Enhancers	Colon Smooth Muscle	Colon
40	chr1:169072000-169072800	Active TSS	Duodenum Mucosa	Duodenum
41	chr1:169072000-169072800	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr1:169072000-169074400	Weak transcription	Adipose Nuclei	Adipose
43	chr1:169072000-169074400	Weak transcription	Fetal Lung	lung
44	chr1:169072200-169073000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:169072200-169073000	Enhancers	Lung	lung
46	chr1:169072200-169073200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:169072200-169073200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:169072200-169073400	Weak transcription	Small Intestine	intestine
49	chr1:169072200-169074800	Weak transcription	Right Atrium	heart
50	chr1:169072400-169072800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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