Variant report

Variant	rs72962652
Chromosome Location	chr1:92942029-92942030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92941922..92944749-chr1:92947941..92950310,2	MCF-7	breast:
2	chr1:92940468..92943663-chr1:92944026..92947261,3	K562	blood:
3	chr1:92934323..92938019-chr1:92941663..92943919,3	K562	blood:

Variant related genes	Relation type
ENSG00000162676	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2391176	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56771910	1.00[AMR][1000 genomes]
rs59590952	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72962657	1.00[AMR][1000 genomes]
rs72964704	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964707	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964727	1.00[AMR][1000 genomes]
rs72966719	1.00[AMR][1000 genomes]
rs72966728	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966760	1.00[AMR][1000 genomes]
rs72966784	1.00[AMR][1000 genomes]
rs72966791	1.00[AMR][1000 genomes]
rs72968836	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	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92925600-92946000	Weak transcription	Right Atrium	heart
2	chr1:92930800-92944400	Weak transcription	Spleen	Spleen
3	chr1:92938800-92943800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr1:92939000-92944600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr1:92939200-92942600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:92939200-92943600	Enhancers	GM12878-XiMat	blood
7	chr1:92939400-92943600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:92939400-92944600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:92939400-92945800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:92939600-92942200	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:92939600-92944600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:92939800-92943600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:92939800-92945200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:92940000-92947400	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr1:92940200-92943400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:92940600-92942200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:92940600-92942200	Strong transcription	HepG2	liver
18	chr1:92940800-92944800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:92941200-92942200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:92941200-92942800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
21	chr1:92941200-92944400	Genic enhancers	Primary T cells from cord blood	blood
22	chr1:92941400-92942200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr1:92941400-92942200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:92941400-92942200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:92941400-92942600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:92941600-92942200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:92941600-92942200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:92941600-92942200	Enhancers	Duodenum Mucosa	Duodenum
29	chr1:92941600-92942600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:92941600-92942800	Enhancers	Primary B cells from cord blood	blood
31	chr1:92941600-92944200	Genic enhancers	Fetal Thymus	thymus
32	chr1:92941800-92942200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr1:92941800-92942200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr1:92941800-92942200	Enhancers	Placenta	Placenta
35	chr1:92941800-92942200	Genic enhancers	Dnd41	blood
36	chr1:92941800-92942400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:92941800-92942800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:92941800-92942800	Active TSS	Thymus	Thymus
39	chr1:92941800-92943000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:92941800-92943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:92941800-92944800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:92941800-92946000	Weak transcription	Gastric	stomach
43	chr1:92942000-92942200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:92942000-92942200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr1:92942000-92942200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr1:92942000-92942200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
47	chr1:92942000-92942400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
48	chr1:92942000-92942400	Enhancers	Primary B cells from peripheral blood	blood
49	chr1:92942000-92943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:92942000-92945600	Weak transcription	Pancreas	Pancrea

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