Variant report

Variant	rs17123259
Chromosome Location	chr12:49085772-49085773
allele	C/T
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:1)
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	chr12:49085106..49087135-chr12:49109184..49111623,2	MCF-7	breast:
2	chr12:49072887..49077758-chr12:49080125..49086735,20	MCF-7	breast:
3	chr12:49078551..49080628-chr12:49085549..49087501,2	MCF-7	breast:
4	chr12:49085628..49087870-chr12:49088071..49090934,2	K562	blood:
5	chr12:49073851..49077506-chr12:49084529..49091835,9	MCF-7	breast:
6	chr12:49085239..49087128-chr12:49088383..49090934,2	K562	blood:
7	chr12:49079308..49081077-chr12:49084026..49086019,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNT1-1	chr12:49082247-49086290	NONHSAT028017

No data

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction
ENSG00000129315	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10506282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834833	1.00[AFR][1000 genomes]
rs11837303	1.00[AFR][1000 genomes]
rs17123234	1.00[AMR][1000 genomes]
rs17123238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123261	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49076000-49087000	Weak transcription	Stomach Mucosa	stomach
2	chr12:49076600-49086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49076600-49086400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:49076600-49086400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:49076600-49086400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:49076600-49086600	Weak transcription	Fetal Kidney	kidney
7	chr12:49076600-49086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:49076600-49086800	Weak transcription	Aorta	Aorta
9	chr12:49076600-49086800	Weak transcription	Esophagus	oesophagus
10	chr12:49076600-49086800	Weak transcription	Gastric	stomach
11	chr12:49076600-49086800	Weak transcription	Ovary	ovary
12	chr12:49076600-49086800	Weak transcription	Pancreas	Pancrea
13	chr12:49076600-49086800	Weak transcription	Spleen	Spleen
14	chr12:49076600-49096400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:49076600-49109000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:49076800-49085800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:49076800-49085800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:49076800-49086800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:49076800-49086800	Weak transcription	Fetal Intestine Small	intestine
20	chr12:49077000-49085800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:49077000-49085800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:49077000-49086800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:49077000-49087000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:49077200-49086400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:49077200-49087000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:49080800-49097400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:49081000-49086800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:49081000-49097200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:49081000-49101000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:49081200-49090800	Strong transcription	HSMM	muscle
31	chr12:49081200-49093600	Strong transcription	NH-A	brain
32	chr12:49081400-49090400	Strong transcription	Brain Anterior Caudate	brain
33	chr12:49081400-49104000	Strong transcription	Hela-S3	cervix
34	chr12:49081600-49090000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr12:49081600-49090200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:49081600-49090600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:49081600-49092400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:49081600-49093600	Strong transcription	Osteobl	bone
39	chr12:49081600-49095000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:49081600-49097400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:49081600-49099800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:49081600-49103800	Strong transcription	Dnd41	blood
43	chr12:49081600-49107200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:49081600-49107600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:49081600-49108400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:49081800-49086000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:49081800-49086000	Strong transcription	K562	blood
48	chr12:49081800-49090600	Strong transcription	Primary B cells from cord blood	blood
49	chr12:49081800-49091000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr12:49081800-49094400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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