Variant report

Variant	rs2562786
Chromosome Location	chr7:26334305-26334306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26224941..26227535-chr7:26333597..26335223,2	K562	blood:
2	chr7:26239911..26241819-chr7:26331558..26335355,4	K562	blood:
3	chr7:26240319..26241875-chr7:26333855..26336720,2	K562	blood:
4	chr7:26238219..26243115-chr7:26329445..26335775,8	MCF-7	breast:
5	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10273457	0.81[EUR][1000 genomes]
rs10275783	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11525780	0.91[EUR][1000 genomes]
rs12538243	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13222190	0.84[EUR][1000 genomes]
rs13227895	0.84[EUR][1000 genomes]
rs13228053	0.82[EUR][1000 genomes]
rs13229994	0.86[EUR][1000 genomes]
rs17153429	0.86[EUR][1000 genomes]
rs2562795	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28653301	0.86[EUR][1000 genomes]
rs28682465	0.86[EUR][1000 genomes]
rs33974860	0.86[EUR][1000 genomes]
rs34272723	0.86[EUR][1000 genomes]
rs34695308	0.86[EUR][1000 genomes]
rs67157703	0.82[EUR][1000 genomes]
rs6975395	0.86[EUR][1000 genomes]
rs7797558	0.80[EUR][1000 genomes]
rs972158	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1018352	chr7:26298095-26341825	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26331800-26334400	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr7:26332000-26334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:26332000-26334600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr7:26332200-26334400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr7:26332200-26334600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr7:26332200-26334800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr7:26332400-26347000	Weak transcription	HMEC	breast
8	chr7:26332600-26334600	Enhancers	Thymus	Thymus
9	chr7:26332600-26337200	Weak transcription	Lung	lung
10	chr7:26332600-26347400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:26332600-26347400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:26332800-26334400	Enhancers	Brain Anterior Caudate	brain
13	chr7:26332800-26334800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:26332800-26335600	Weak transcription	Fetal Brain Male	brain
15	chr7:26332800-26342000	Weak transcription	Fetal Intestine Small	intestine
16	chr7:26332800-26343000	Weak transcription	Spleen	Spleen
17	chr7:26332800-26346200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:26332800-26346400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:26332800-26346600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:26333400-26335000	Weak transcription	Fetal Brain Female	brain
21	chr7:26333400-26335200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:26333400-26344600	Weak transcription	Placenta	Placenta
23	chr7:26333600-26346600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:26333600-26351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:26333800-26334600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:26333800-26334600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:26333800-26335000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:26333800-26335000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:26333800-26335000	Enhancers	Fetal Thymus	thymus
30	chr7:26333800-26335400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:26333800-26346800	Weak transcription	Pancreas	Pancrea
32	chr7:26334000-26334400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr7:26334000-26334600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr7:26334000-26334800	Flanking Active TSS	GM12878-XiMat	blood
35	chr7:26334000-26335000	Enhancers	Primary T cells from cord blood	blood
36	chr7:26334000-26335000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr7:26334000-26335200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:26334000-26337800	Weak transcription	Liver	Liver
39	chr7:26334000-26338400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:26334000-26341000	Weak transcription	HepG2	liver
41	chr7:26334200-26334400	Enhancers	Brain Angular Gyrus	brain
42	chr7:26334200-26334600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:26334200-26334800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:26334200-26334800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:26334200-26335200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr7:26334200-26335200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr7:26334200-26335400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:26334200-26338600	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr7:26334200-26346200	Weak transcription	K562	blood

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