Variant report

Variant	rs12271122
Chromosome Location	chr11:45205775-45205776
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
2	chr11:45201434..45203810-chr11:45205775..45209200,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000019485	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10160228	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11038347	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11038348	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12289677	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12417962	0.87[AMR][1000 genomes]
rs12573851	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12573853	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2012408	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2863164	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34007448	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3740784	0.87[AMR][1000 genomes]
rs3758718	0.87[AMR][1000 genomes]
rs3758720	0.87[AMR][1000 genomes]
rs3758721	0.87[AMR][1000 genomes]
rs3758724	0.87[AMR][1000 genomes]
rs3781703	0.87[AMR][1000 genomes]
rs4755949	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4755959	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61880311	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61880320	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61880323	0.87[AMR][1000 genomes]
rs7105035	0.87[AMR][1000 genomes]
rs7108362	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45202000-45206600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:45202000-45207600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:45202000-45220000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:45202800-45206200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:45202800-45234000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:45203000-45206400	Weak transcription	NHDF-Ad	bronchial
7	chr11:45203000-45208400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:45203000-45209600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:45203000-45213400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:45203000-45237000	Weak transcription	Small Intestine	intestine
11	chr11:45203200-45205800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:45203200-45206200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:45203200-45208400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:45203200-45209600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:45203200-45211000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:45203200-45212400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:45203200-45213000	Weak transcription	HSMM	muscle
18	chr11:45203200-45215200	Weak transcription	Psoas Muscle	Psoas
19	chr11:45203400-45206200	Weak transcription	HUVEC	blood vessel
20	chr11:45203400-45206600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:45203400-45206800	Enhancers	Fetal Heart	heart
22	chr11:45203400-45207200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:45203400-45209000	Weak transcription	Brain Angular Gyrus	brain
24	chr11:45203400-45209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:45203400-45209600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:45203400-45209600	Weak transcription	Fetal Brain Male	brain
27	chr11:45203400-45210000	Weak transcription	NHLF	lung
28	chr11:45203400-45215200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:45203400-45217600	Weak transcription	NH-A	brain
30	chr11:45203400-45221200	Weak transcription	NHEK	skin
31	chr11:45203400-45230400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:45203400-45231000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:45203600-45205800	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr11:45203600-45206400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:45203600-45210000	Strong transcription	Brain Germinal Matrix	brain
36	chr11:45203600-45210800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:45203600-45210800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr11:45203600-45211600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:45203600-45226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:45203600-45231000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:45203800-45206800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:45203800-45206800	Genic enhancers	Right Ventricle	heart
43	chr11:45203800-45207200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:45203800-45207200	Genic enhancers	Fetal Intestine Large	intestine
45	chr11:45203800-45210200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:45203800-45210400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:45203800-45210800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr11:45203800-45212600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:45204000-45205800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr11:45204000-45206200	Strong transcription	A549	lung

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