Variant report

Variant	rs72998179
Chromosome Location	chr1:114476056-114476057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:108284881..108287773-chr1:114473969..114476814,2	MCF-7	breast:
2	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:
3	chr1:114469554..114476691-chr1:114493097..114498363,7	MCF-7	breast:
4	chr1:114475803..114477575-chr15:75761149..75763286,2	MCF-7	breast:
5	chr1:114360381..114362673-chr1:114475492..114478484,2	K562	blood:
6	chr1:114352067..114356642-chr1:114470131..114477025,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118655	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000169410	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000134242	Chromatin interaction
ENSG00000134262	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12568502	0.86[AFR][1000 genomes]
rs60565055	1.00[AMR][1000 genomes]
rs72988587	1.00[AMR][1000 genomes]
rs72990447	1.00[AMR][1000 genomes]
rs72990454	1.00[AMR][1000 genomes]
rs72990460	1.00[AMR][1000 genomes]
rs72998111	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998192	1.00[AMR][1000 genomes]
rs73000165	1.00[AMR][1000 genomes]
rs73000167	1.00[AMR][1000 genomes]
rs73000171	1.00[AMR][1000 genomes]
rs73002090	1.00[AMR][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	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114470800-114476200	Active TSS	Thymus	Thymus
2	chr1:114473200-114477200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr1:114473200-114477200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:114473200-114481200	Weak transcription	Spleen	Spleen
5	chr1:114473400-114476600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:114473400-114477400	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr1:114473400-114480400	Weak transcription	Gastric	stomach
8	chr1:114473400-114483000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:114473400-114483200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:114473600-114476200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:114473600-114476200	Weak transcription	Esophagus	oesophagus
12	chr1:114473600-114480400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:114473600-114483000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:114473600-114483000	Weak transcription	Placenta	Placenta
15	chr1:114473600-114483200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:114473600-114499200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:114473800-114476200	Weak transcription	Left Ventricle	heart
18	chr1:114473800-114483000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:114473800-114483000	Weak transcription	Colonic Mucosa	Colon
20	chr1:114473800-114483200	Weak transcription	Right Ventricle	heart
21	chr1:114474000-114476400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:114474200-114476600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:114474200-114476800	Enhancers	Brain Hippocampus Middle	brain
24	chr1:114474200-114476800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:114474200-114477200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr1:114474200-114477800	Enhancers	Liver	Liver
27	chr1:114474200-114479800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:114474200-114482600	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:114474200-114483000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:114474200-114483000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:114474200-114483200	Weak transcription	Aorta	Aorta
32	chr1:114474200-114483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:114474200-114489600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:114474400-114476200	Enhancers	NHEK	skin
35	chr1:114474400-114478400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:114474400-114478800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:114474400-114483200	Weak transcription	Fetal Brain Female	brain
38	chr1:114474600-114476200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:114474600-114476600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:114474600-114477000	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:114474600-114477200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:114474600-114477800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:114474600-114479800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:114474600-114479800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:114474600-114480000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:114474600-114480200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:114474600-114483200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:114474600-114483200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr1:114474800-114476400	Flanking Active TSS	Fetal Thymus	thymus
50	chr1:114474800-114476600	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links