Variant report

Variant	rs11264294
Chromosome Location	chr1:154979561-154979562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154979360..154982148-chr1:155022145..155024716,3	MCF-7	breast:
2	chr1:154979174..154980929-chr1:155013943..155015954,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143537	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12142017	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845700	0.84[ASN][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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
4	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154976400-154988800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:154976600-154979600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr1:154976600-154984400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:154976800-154980600	Enhancers	Spleen	Spleen
5	chr1:154976800-154980800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr1:154976800-154981000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:154976800-154981600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:154977000-154986400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:154977200-154980200	Enhancers	Fetal Lung	lung
10	chr1:154977200-154980400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:154977200-154980800	Enhancers	Fetal Muscle Leg	muscle
12	chr1:154977400-154979600	Enhancers	HepG2	liver
13	chr1:154977400-154980600	Enhancers	Psoas Muscle	Psoas
14	chr1:154977400-154980800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:154977400-154980800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:154977400-154981000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:154977400-154981000	Enhancers	Right Atrium	heart
18	chr1:154977400-154981200	Enhancers	Left Ventricle	heart
19	chr1:154977400-154982400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:154977400-154983400	Enhancers	Fetal Muscle Trunk	muscle
21	chr1:154977400-154990000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:154977600-154979600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:154977600-154979600	Enhancers	Colon Smooth Muscle	Colon
24	chr1:154977600-154979600	Weak transcription	Fetal Brain Male	brain
25	chr1:154977600-154979800	Enhancers	Right Ventricle	heart
26	chr1:154977600-154980000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:154977600-154980200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:154977600-154980400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:154977600-154980400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:154977600-154980600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:154977600-154980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:154977600-154980600	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:154977600-154980600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr1:154977600-154980800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:154977600-154980800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:154977600-154980800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:154977600-154980800	Enhancers	Fetal Thymus	thymus
38	chr1:154977600-154980800	Enhancers	HSMM	muscle
39	chr1:154977600-154981000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:154977600-154981000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:154977600-154981200	Enhancers	Brain Angular Gyrus	brain
42	chr1:154977600-154981200	Enhancers	HMEC	breast
43	chr1:154977600-154984000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:154977600-154984400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:154977600-154987200	Weak transcription	Aorta	Aorta
46	chr1:154978000-154979600	Enhancers	Brain Hippocampus Middle	brain
47	chr1:154978000-154979800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:154978000-154980200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:154978000-154980200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:154978000-154980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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