Variant report

Variant	rs72962656
Chromosome Location	chr1:92943130-92943131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92943106..92945149-chr1:92950774..92953429,2	K562	blood:
2	chr1:92941922..92944749-chr1:92947941..92950310,2	MCF-7	breast:
3	chr1:92940468..92943663-chr1:92944026..92947261,3	K562	blood:
4	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]
rs56771910	1.00[AFR][1000 genomes]
rs72962657	1.00[AFR][1000 genomes]
rs72962669	1.00[AFR][1000 genomes]
rs72962677	1.00[AFR][1000 genomes]
rs72964725	1.00[AFR][1000 genomes]
rs72964727	1.00[AFR][1000 genomes]
rs72964748	1.00[AFR][1000 genomes]
rs72964760	1.00[AFR][1000 genomes]
rs72966719	1.00[AFR][1000 genomes]
rs72966745	0.83[AFR][1000 genomes]
rs72966760	1.00[AFR][1000 genomes]
rs72966784	1.00[AFR][1000 genomes]
rs72966791	1.00[AFR][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:36 , 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	chr1:92939200-92943600	Enhancers	GM12878-XiMat	blood
6	chr1:92939400-92943600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:92939400-92944600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:92939400-92945800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:92939600-92944600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:92939800-92943600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:92939800-92945200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:92940000-92947400	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr1:92940200-92943400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:92940800-92944800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:92941200-92944400	Genic enhancers	Primary T cells from cord blood	blood
16	chr1:92941600-92944200	Genic enhancers	Fetal Thymus	thymus
17	chr1:92941800-92943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:92941800-92944800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:92941800-92946000	Weak transcription	Gastric	stomach
20	chr1:92942000-92943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:92942000-92945600	Weak transcription	Pancreas	Pancrea
22	chr1:92942200-92943600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:92942200-92943600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:92942200-92943800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:92942200-92944000	Weak transcription	HepG2	liver
26	chr1:92942600-92943200	Genic enhancers	Dnd41	blood
27	chr1:92942600-92947400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:92942600-92947600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:92942800-92943200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:92942800-92943400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:92942800-92943400	Weak transcription	Thymus	Thymus
32	chr1:92942800-92944000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:92942800-92947200	Weak transcription	Primary B cells from cord blood	blood
34	chr1:92942800-92947600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:92943000-92943400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:92943000-92944200	Genic enhancers	Primary hematopoietic stem cells	blood

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