Variant report

Variant	rs11168756
Chromosome Location	chr12:49242074-49242075
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49233140..49234993-chr12:49240604..49242161,2	MCF-7	breast:
2	chr12:49239374..49242226-chr12:49244513..49247650,4	K562	blood:
3	chr12:49213003..49214588-chr12:49239304..49242169,2	MCF-7	breast:
4	chr12:49203980..49213270-chr12:49239370..49250118,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174243	Chromatin interaction
ENSG00000167535	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11168758	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28735279	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61941109	0.89[AMR][1000 genomes];0.97[EUR][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	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 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	chr12:49215200-49243800	Strong transcription	Fetal Stomach	stomach
2	chr12:49216800-49244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:49217000-49243800	Strong transcription	Fetal Intestine Small	intestine
4	chr12:49221200-49243800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:49221800-49243200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:49222600-49244200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:49227000-49244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:49230400-49244200	Weak transcription	Fetal Heart	heart
9	chr12:49233400-49243600	Weak transcription	Stomach Mucosa	stomach
10	chr12:49234000-49244000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:49234000-49244200	Weak transcription	NHDF-Ad	bronchial
12	chr12:49234000-49244400	Weak transcription	Psoas Muscle	Psoas
13	chr12:49234200-49244400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:49236800-49243800	Strong transcription	Thymus	Thymus
15	chr12:49237000-49243600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:49237000-49243600	Strong transcription	Fetal Thymus	thymus
17	chr12:49237000-49244200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:49237000-49244400	Strong transcription	Fetal Intestine Large	intestine
19	chr12:49237000-49244600	Strong transcription	Fetal Muscle Leg	muscle
20	chr12:49237600-49242800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr12:49237600-49243000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr12:49238200-49244200	Weak transcription	Fetal Kidney	kidney
23	chr12:49238200-49244200	Weak transcription	HMEC	breast
24	chr12:49238200-49244200	Weak transcription	NHLF	lung
25	chr12:49238200-49244600	Weak transcription	HSMMtube	muscle
26	chr12:49238400-49244200	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:49238400-49244400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:49238400-49244800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:49239200-49244200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:49239600-49243600	Weak transcription	NHEK	skin
31	chr12:49239600-49244200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:49239600-49244200	Weak transcription	Small Intestine	intestine
33	chr12:49239600-49244400	Weak transcription	Pancreas	Pancrea
34	chr12:49239600-49244400	Weak transcription	Right Ventricle	heart
35	chr12:49239600-49245200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:49239800-49242800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:49239800-49243200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:49239800-49243600	Weak transcription	Adipose Nuclei	Adipose
39	chr12:49239800-49243600	Weak transcription	Fetal Lung	lung
40	chr12:49239800-49243800	Weak transcription	Brain Substantia Nigra	brain
41	chr12:49239800-49244000	Weak transcription	Brain Angular Gyrus	brain
42	chr12:49239800-49244200	Weak transcription	Brain Anterior Caudate	brain
43	chr12:49239800-49244200	Weak transcription	HUVEC	blood vessel
44	chr12:49239800-49244400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:49239800-49244400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:49239800-49244400	Weak transcription	Fetal Brain Female	brain
47	chr12:49239800-49244400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:49239800-49244400	Weak transcription	HSMM	muscle
49	chr12:49239800-49244600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:49239800-49244600	Weak transcription	Esophagus	oesophagus

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