Variant report

Variant	rs56279750
Chromosome Location	chr2:127729810-127729811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127728843..127730664-chr2:127736005..127737630,2	MCF-7	breast:
2	chr17:42421751..42423895-chr2:127728596..127731576,2	MCF-7	breast:
3	chr2:127285363..127286223-chr2:127729309..127730212,5	MCF-7	breast:
4	chr2:126503200..126503743-chr2:127729269..127730019,3	MCF-7	breast:
5	chr2:127729704..127730234-chr2:127807453..127808173,2	K562	blood:
6	chr2:127643515..127644193-chr2:127729132..127729892,3	MCF-7	breast:
7	chr2:127534693..127535651-chr2:127729199..127730146,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000030582	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10803616	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127727800-127730600	Enhancers	Fetal Brain Male	brain
2	chr2:127728200-127730200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:127728200-127730200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:127728800-127730000	Enhancers	Lung	lung
5	chr2:127728800-127730000	Enhancers	Spleen	Spleen
6	chr2:127728800-127730200	Active TSS	Brain Anterior Caudate	brain
7	chr2:127729000-127730000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
8	chr2:127729000-127730000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:127729000-127730000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:127729000-127730000	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr2:127729000-127730200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:127729200-127730000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:127729200-127730000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr2:127729200-127730000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr2:127729200-127730000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:127729200-127730000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:127729200-127730000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:127729200-127730000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:127729200-127730000	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr2:127729200-127730000	Bivalent/Poised TSS	Osteobl	bone
21	chr2:127729200-127730200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr2:127729400-127730000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:127729400-127730000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:127729400-127730000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr2:127729400-127730000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:127729400-127730000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:127729400-127730000	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr2:127729400-127730000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:127729400-127730000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
30	chr2:127729400-127730000	Bivalent Enhancer	Dnd41	blood
31	chr2:127729400-127730000	Active TSS	HSMM	muscle
32	chr2:127729400-127730200	Enhancers	Fetal Lung	lung
33	chr2:127729600-127730000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr2:127729600-127730000	Bivalent Enhancer	Primary B cells from cord blood	blood
35	chr2:127729600-127730000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:127729600-127730000	Active TSS	Fetal Brain Female	brain
37	chr2:127729600-127730000	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr2:127729600-127730200	Bivalent Enhancer	Fetal Thymus	thymus
39	chr2:127729600-127730200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr2:127729600-127730400	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr2:127729600-127730400	Flanking Active TSS	HepG2	liver
42	chr2:127729800-127730000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:127729800-127730000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:127729800-127730000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:127729800-127730000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
46	chr2:127729800-127730000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr2:127729800-127730000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:127729800-127730000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:127729800-127730000	Enhancers	Adipose Nuclei	Adipose
50	chr2:127729800-127730000	Flanking Active TSS	Brain Angular Gyrus	brain

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