Variant report

Variant	rs2557795
Chromosome Location	chr2:171863724-171863725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171862871..171865768-chr2:172289351..172291517,2	MCF-7	breast:
2	chr2:171862581..171865387-chr2:171866282..171868181,2	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1863773	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2081769	0.96[AFR][1000 genomes]
rs2217184	0.94[YRI][hapmap];0.92[AMR][1000 genomes]
rs2247657	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2555919	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2555920	0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2555923	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2555924	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2555925	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2555927	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2676129	0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2676146	0.94[YRI][hapmap];0.99[AFR][1000 genomes]
rs2723237	0.94[YRI][hapmap];0.99[AFR][1000 genomes]
rs2723247	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4602193	0.88[AFR][1000 genomes]
rs6433274	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6433279	0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.92[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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
3	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:171841000-171865400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:171841000-171877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:171841000-171895800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
10	chr2:171842200-171892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:171843000-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:171843200-171871800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:171844600-171868800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:171844800-171873000	Strong transcription	GM12878-XiMat	blood
16	chr2:171846000-171898000	Weak transcription	Psoas Muscle	Psoas
17	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
18	chr2:171847200-171871600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:171847400-171864200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:171847400-171871600	Strong transcription	Dnd41	blood
21	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
22	chr2:171847600-171871800	Strong transcription	Placenta	Placenta
23	chr2:171847600-171872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:171847600-171872000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:171847800-171878200	Weak transcription	Stomach Mucosa	stomach
26	chr2:171848000-171866400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:171848200-171869000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:171848800-171873000	Strong transcription	HepG2	liver
29	chr2:171849000-171865800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:171850400-171865400	Weak transcription	Fetal Heart	heart
31	chr2:171850400-171892000	Weak transcription	Brain Anterior Caudate	brain
32	chr2:171851800-171868800	Strong transcription	Primary B cells from cord blood	blood
33	chr2:171851800-171881800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:171852200-171868800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:171852200-171871600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:171853200-171898800	Weak transcription	Aorta	Aorta
37	chr2:171854000-171877400	Weak transcription	NHLF	lung
38	chr2:171855200-171867400	Weak transcription	Gastric	stomach
39	chr2:171855400-171871800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:171857000-171864000	Strong transcription	Liver	Liver
41	chr2:171857200-171864600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:171857200-171871600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:171857200-171871800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:171857400-171864000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:171857600-171864000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:171857800-171870600	Weak transcription	NH-A	brain
47	chr2:171858000-171867400	Weak transcription	NHEK	skin
48	chr2:171858000-171871000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:171858000-171891800	Weak transcription	Fetal Brain Female	brain
50	chr2:171858000-171892000	Weak transcription	Brain Substantia Nigra	brain

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