Variant report

Variant	rs2279695
Chromosome Location	chr12:117154262-117154263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117152671..117155117-chr12:117156029..117158253,2	MCF-7	breast:
2	chr12:117150782..117153045-chr12:117153235..117155739,2	MCF-7	breast:
3	chr12:117145528..117148245-chr12:117152693..117154607,2	K562	blood:
4	chr12:117153590..117156562-chr12:117318875..117320657,2	MCF-7	breast:
5	chr12:117153473..117155684-chr12:117157484..117160724,3	K562	blood:
6	chr12:117151653..117153224-chr12:117153245..117155923,3	MCF-7	breast:
7	chr12:117153364..117155986-chr12:117156713..117160278,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111412	Chromatin interaction
ENSG00000135116	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2270618	0.83[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2270619	0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809191	0.84[EUR][1000 genomes]
rs3809192	0.84[CHD][hapmap]
rs4767437	0.88[JPT][hapmap]

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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr12:117147200-117155200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:117147200-117155400	Weak transcription	Right Atrium	heart
3	chr12:117147200-117155800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:117147200-117155800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:117147200-117156400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:117147200-117174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:117147400-117155400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:117147400-117155800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:117147400-117156000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:117147400-117156000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:117147400-117157000	Weak transcription	Right Ventricle	heart
12	chr12:117147400-117158000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:117147400-117173600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:117148400-117154400	Weak transcription	HUVEC	blood vessel
15	chr12:117148600-117154800	Weak transcription	Psoas Muscle	Psoas
16	chr12:117148600-117155400	Weak transcription	HSMMtube	muscle
17	chr12:117148600-117164200	Weak transcription	Stomach Mucosa	stomach
18	chr12:117149000-117155000	Weak transcription	Fetal Lung	lung
19	chr12:117149000-117155200	Weak transcription	Fetal Brain Male	brain
20	chr12:117149400-117154600	Strong transcription	Fetal Stomach	stomach
21	chr12:117149400-117174000	Weak transcription	K562	blood
22	chr12:117149600-117155400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:117149600-117164200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:117150000-117155400	Strong transcription	Lung	lung
25	chr12:117150000-117162000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:117150200-117155800	Strong transcription	Gastric	stomach
27	chr12:117150600-117155800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:117150800-117172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:117151000-117159000	Strong transcription	Fetal Thymus	thymus
30	chr12:117151000-117161800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:117151200-117157400	Weak transcription	HMEC	breast
32	chr12:117151200-117161400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:117151600-117155800	Strong transcription	Fetal Intestine Small	intestine
34	chr12:117151800-117155000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:117151800-117155400	Weak transcription	Brain Angular Gyrus	brain
36	chr12:117152000-117154600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:117152000-117155400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:117152000-117155800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:117152000-117156400	Strong transcription	Dnd41	blood
40	chr12:117152000-117156800	Weak transcription	Small Intestine	intestine
41	chr12:117152000-117161000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:117152000-117161000	Strong transcription	Spleen	Spleen
43	chr12:117152000-117161200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:117152000-117161200	Strong transcription	Fetal Intestine Large	intestine
45	chr12:117152000-117161400	Strong transcription	Primary T cells from cord blood	blood
46	chr12:117152200-117155800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:117152200-117161000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr12:117152400-117154400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:117152400-117154600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr12:117152400-117155600	Weak transcription	Esophagus	oesophagus

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