Variant report

Variant	rs12279375
Chromosome Location	chr11:73305961-73305962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73304614..73306739-chr11:73310819..73312531,2	K562	blood:
2	chr11:73303459..73306739-chr11:73310819..73313013,3	K562	blood:
3	chr11:73304467..73306612-chr11:73307479..73309635,2	K562	blood:

Variant related genes	Relation type
ENSG00000054965	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10047427	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10082565	1.00[AMR][1000 genomes]
rs10128665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1054726	1.00[AMR][1000 genomes]
rs11235732	1.00[AMR][1000 genomes]
rs11235744	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11235750	1.00[AMR][1000 genomes]
rs11235756	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11235758	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11235766	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235769	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235774	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235781	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235782	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235785	0.95[AFR][1000 genomes]
rs11235804	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235808	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235817	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11819847	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822755	1.00[YRI][hapmap]
rs11822862	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823113	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823115	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12269810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270051	0.82[AFR][1000 genomes]
rs12273771	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274281	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12274787	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12277410	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12279753	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281470	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282576	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286967	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287335	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290126	1.00[AMR][1000 genomes]
rs12295567	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377500	0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17132094	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17132131	0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv983188	chr11:73273934-73307064	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73250000-73307800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:73253800-73307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:73263200-73306000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:73266600-73307800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:73272200-73307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:73275400-73307000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:73276400-73307000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:73277400-73307800	Weak transcription	Fetal Intestine Large	intestine
9	chr11:73279400-73307000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:73281600-73307800	Weak transcription	Hela-S3	cervix
11	chr11:73285200-73306600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:73286800-73307600	Weak transcription	Lung	lung
13	chr11:73287800-73306200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:73288000-73306200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:73288400-73307800	Weak transcription	Aorta	Aorta
16	chr11:73288800-73307600	Weak transcription	Fetal Kidney	kidney
17	chr11:73289400-73307000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:73289600-73306800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:73290000-73306600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:73290000-73308000	Weak transcription	Primary B cells from cord blood	blood
21	chr11:73290200-73306600	Weak transcription	Brain Angular Gyrus	brain
22	chr11:73290200-73307000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:73290200-73307000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:73290200-73307000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:73290400-73308000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:73291400-73307600	Weak transcription	Pancreas	Pancrea
27	chr11:73294200-73307800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:73297400-73307600	Weak transcription	Osteobl	bone
29	chr11:73297600-73307000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:73297800-73307200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:73297800-73307400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:73297800-73307600	Weak transcription	HMEC	breast
33	chr11:73298000-73306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:73298000-73307000	Weak transcription	Small Intestine	intestine
35	chr11:73298000-73307600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:73299800-73306600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:73299800-73307600	Weak transcription	Fetal Stomach	stomach
38	chr11:73300000-73307600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:73300600-73307000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:73302600-73306600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:73302600-73306600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:73302600-73307000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:73302800-73306600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:73303200-73307600	Weak transcription	Fetal Heart	heart
45	chr11:73303400-73307600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:73303800-73307600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:73303800-73307600	Weak transcription	Right Atrium	heart
48	chr11:73304000-73307000	Weak transcription	Fetal Thymus	thymus
49	chr11:73304000-73307600	Weak transcription	Left Ventricle	heart
50	chr11:73304600-73306000	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links