Variant report

Variant	rs10876128
Chromosome Location	chr12:51448555-51448556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51446371..51449109-chr12:51475954..51477544,3	K562	blood:
2	chr12:51446671..51449109-chr12:51475852..51477454,2	K562	blood:
3	chr12:51440743..51444863-chr12:51448295..51453075,7	MCF-7	breast:
4	chr12:51441811..51444855-chr12:51447426..51450145,3	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10275	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10783409	0.92[CEU][hapmap]
rs10876127	0.98[EUR][1000 genomes]
rs10876129	0.98[EUR][1000 genomes]
rs10876130	0.96[CEU][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs10876131	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10876132	0.98[EUR][1000 genomes]
rs10876136	0.96[CEU][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs10876139	0.92[EUR][1000 genomes]
rs1095999	0.83[EUR][1000 genomes]
rs11169657	0.86[EUR][1000 genomes]
rs11169695	0.98[EUR][1000 genomes]
rs11169707	0.90[EUR][1000 genomes]
rs11169710	0.83[EUR][1000 genomes]
rs11610644	0.88[EUR][1000 genomes]
rs12370120	0.91[EUR][1000 genomes]
rs12424509	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs12427345	0.97[EUR][1000 genomes]
rs1486014	0.98[EUR][1000 genomes]
rs15756	1.00[CEU][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs1632791	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2029145	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2029146	1.00[CEU][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs224448	0.87[EUR][1000 genomes]
rs224572	0.92[CEU][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs224575	0.85[CEU][hapmap]
rs319936	0.85[CEU][hapmap]
rs319939	0.85[CEU][hapmap]
rs370462	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs427020	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs4438107	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs55874804	0.98[EUR][1000 genomes]
rs61934800	0.98[EUR][1000 genomes]
rs6580782	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6580785	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs6580788	0.96[CEU][hapmap]
rs706805	0.86[EUR][1000 genomes]
rs7135399	0.89[EUR][1000 genomes]
rs7136960	0.98[EUR][1000 genomes]
rs7958068	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7961626	0.84[EUR][1000 genomes]
rs7969803	0.92[EUR][1000 genomes]
rs7976431	0.98[EUR][1000 genomes]
rs7977740	0.84[EUR][1000 genomes]
rs829025	0.83[EUR][1000 genomes]
rs9739342	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 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	chr12:51442800-51449000	Weak transcription	Aorta	Aorta
2	chr12:51442800-51449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:51442800-51450000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:51442800-51452800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:51442800-51470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:51443000-51453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:51443200-51449600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:51443400-51449200	Weak transcription	Right Ventricle	heart
9	chr12:51443400-51452600	Weak transcription	Stomach Mucosa	stomach
10	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:51443600-51448600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:51443600-51451600	Weak transcription	Colonic Mucosa	Colon
13	chr12:51443600-51451800	Weak transcription	Small Intestine	intestine
14	chr12:51443600-51452600	Weak transcription	Psoas Muscle	Psoas
15	chr12:51443600-51457400	Weak transcription	Fetal Brain Male	brain
16	chr12:51443600-51459600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:51443600-51462800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:51443800-51449000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:51443800-51455600	Weak transcription	Fetal Heart	heart
20	chr12:51443800-51462600	Strong transcription	A549	lung
21	chr12:51444000-51449600	Weak transcription	HUVEC	blood vessel
22	chr12:51444200-51452400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:51444200-51454800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:51444200-51463200	Strong transcription	Placenta	Placenta
25	chr12:51444200-51465000	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:51444200-51465400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:51444200-51465600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:51444200-51470400	Strong transcription	Fetal Stomach	stomach
29	chr12:51444400-51462800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr12:51444400-51464800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:51444600-51455600	Strong transcription	Fetal Intestine Small	intestine
32	chr12:51445000-51467800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:51445400-51449600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:51445400-51449800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr12:51445400-51449800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr12:51445400-51454000	Strong transcription	Left Ventricle	heart
37	chr12:51445400-51462600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr12:51445400-51462600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:51445400-51462600	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:51445400-51462800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:51445400-51464000	Strong transcription	Fetal Intestine Large	intestine
42	chr12:51445400-51467800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:51445400-51467800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:51445400-51469200	Strong transcription	Fetal Thymus	thymus
45	chr12:51445400-51470600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:51445600-51449800	Strong transcription	Osteobl	bone
47	chr12:51445600-51450200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr12:51445600-51450400	Strong transcription	NH-A	brain
49	chr12:51445600-51452400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:51445600-51454200	Strong transcription	Thymus	Thymus

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