Variant report

Variant	rs12967475
Chromosome Location	chr18:29600508-29600509
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	chr18:29597754..29600118-chr18:29600354..29602293,2	MCF-7	breast:
2	chr18:29599759..29602632-chr18:29612702..29615585,2	K562	blood:

Variant related genes	Relation type
ENSG00000101695	Chromatin interaction
ENSG00000263917	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12957727	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12963104	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17718931	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34967605	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7231175	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7245142	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72934839	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8083910	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][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	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29597600-29600600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr18:29597800-29600600	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr18:29597800-29600600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr18:29597800-29600800	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr18:29597800-29601000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr18:29598000-29600600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr18:29598000-29600600	Active TSS	Right Atrium	heart
8	chr18:29598000-29603200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:29598200-29600600	Active TSS	Brain Angular Gyrus	brain
10	chr18:29598400-29601000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr18:29598600-29600600	Active TSS	Duodenum Mucosa	Duodenum
12	chr18:29598600-29600800	Active TSS	Thymus	Thymus
13	chr18:29598600-29601400	Active TSS	Primary T cells from cord blood	blood
14	chr18:29599600-29600600	Active TSS	Left Ventricle	heart
15	chr18:29599600-29600800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr18:29599600-29629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:29599800-29600600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
18	chr18:29599800-29600600	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr18:29599800-29600800	Weak transcription	Small Intestine	intestine
20	chr18:29599800-29601000	Active TSS	Psoas Muscle	Psoas
21	chr18:29599800-29601800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:29599800-29602400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr18:29600000-29600600	Enhancers	Primary B cells from peripheral blood	blood
24	chr18:29600000-29600600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr18:29600000-29601400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr18:29600000-29601400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:29600000-29601400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:29600000-29601400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr18:29600000-29601400	Weak transcription	Brain Substantia Nigra	brain
30	chr18:29600000-29602000	Weak transcription	Brain Anterior Caudate	brain
31	chr18:29600000-29602400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr18:29600000-29602400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr18:29600200-29600600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr18:29600200-29600600	Flanking Active TSS	Liver	Liver
35	chr18:29600200-29600600	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr18:29600200-29600800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr18:29600200-29600800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:29600200-29600800	Flanking Active TSS	Fetal Thymus	thymus
39	chr18:29600200-29601000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr18:29600200-29601000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr18:29600200-29601000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:29600200-29601000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:29600200-29601200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr18:29600200-29601400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr18:29600200-29601400	Enhancers	Brain Cingulate Gyrus	brain
46	chr18:29600200-29603000	Weak transcription	Pancreas	Pancrea
47	chr18:29600200-29617200	Weak transcription	Lung	lung
48	chr18:29600400-29600600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr18:29600400-29600600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr18:29600400-29600600	Enhancers	Rectal Mucosa Donor 31	rectum

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