Variant report

Variant	rs12046289
Chromosome Location	chr1:114451386-114451387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:114451360-114451510	HBMEC	blood vessel:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114446781..114449209-chr1:114451008..114452927,3	K562	blood:
2	chr1:114373171..114375112-chr1:114450581..114453356,2	K562	blood:
3	chr1:114451330..114452936-chr1:114510324..114512060,2	K562	blood:
4	chr1:114352137..114357235-chr1:114445065..114452395,18	MCF-7	breast:
5	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:
6	chr1:114390544..114392097-chr1:114451308..114453873,2	MCF-7	breast:
7	chr1:114449032..114451471-chr13:20531152..20533665,2	MCF-7	breast:
8	chr1:114449671..114451992-chr1:114516698..114518911,2	MCF-7	breast:

No data

Variant related genes	Relation type
AP4B1	TF binding region
ENSG00000081019	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000121741	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000231128	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11102694	0.80[AMR][1000 genomes]
rs11102702	0.90[AMR][1000 genomes]
rs11552449	0.85[AMR][1000 genomes]
rs2358994	0.80[AMR][1000 genomes]
rs2358995	0.80[AMR][1000 genomes]
rs3761936	0.85[AMR][1000 genomes]
rs7513707	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats 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	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114448600-114452800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:114448600-114452800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:114448600-114453200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:114448600-114453200	Weak transcription	Gastric	stomach
5	chr1:114448600-114453600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:114448600-114453600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:114448600-114453800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:114448600-114453800	Weak transcription	Aorta	Aorta
9	chr1:114448600-114453800	Weak transcription	Pancreas	Pancrea
10	chr1:114448600-114453800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:114448600-114454200	Weak transcription	Small Intestine	intestine
12	chr1:114448600-114455000	Weak transcription	Fetal Heart	heart
13	chr1:114448600-114455200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:114448600-114455200	Weak transcription	Psoas Muscle	Psoas
15	chr1:114448600-114455400	Weak transcription	Right Ventricle	heart
16	chr1:114448600-114456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:114448600-114456600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:114448600-114461400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:114448800-114451400	Weak transcription	NHDF-Ad	bronchial
20	chr1:114448800-114453400	Weak transcription	Primary B cells from cord blood	blood
21	chr1:114448800-114453800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:114448800-114454400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:114448800-114456000	Weak transcription	Fetal Kidney	kidney
24	chr1:114449000-114453800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:114449000-114453800	Weak transcription	Colonic Mucosa	Colon
26	chr1:114449000-114455400	Weak transcription	Right Atrium	heart
27	chr1:114449200-114451400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:114449200-114452800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:114449200-114453200	Weak transcription	NH-A	brain
30	chr1:114449200-114461800	Weak transcription	Fetal Brain Male	brain
31	chr1:114449400-114451600	Strong transcription	Fetal Stomach	stomach
32	chr1:114449400-114455800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:114449400-114456000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:114449600-114451800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:114449600-114453000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:114449600-114453600	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:114449600-114453800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:114449600-114454600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:114449600-114455600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:114449600-114456800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:114449600-114458000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:114449800-114451400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:114449800-114451600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:114449800-114451600	Strong transcription	Fetal Intestine Small	intestine
45	chr1:114449800-114451600	Genic enhancers	K562	blood
46	chr1:114449800-114451800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:114449800-114451800	Genic enhancers	Dnd41	blood
48	chr1:114449800-114452400	Strong transcription	HepG2	liver
49	chr1:114449800-114452800	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:114449800-114453200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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