Variant report

Variant	rs57224930
Chromosome Location	chr18:29599266-29599267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29598540..29599388-chr18:29671670..29672456,2	Hela-S3	cervix:
2	chr18:29597506..29599866-chr18:29670953..29673378,4	MCF-7	breast:
3	chr18:29596689..29599956-chr18:29670764..29674475,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265008	Chromatin interaction
ENSG00000238982	Chromatin interaction
ENSG00000134758	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10221323	1.00[ASN][1000 genomes]
rs10468830	1.00[ASN][1000 genomes]
rs12327088	1.00[ASN][1000 genomes]
rs13381543	1.00[ASN][1000 genomes]
rs13381673	1.00[ASN][1000 genomes]
rs16962626	1.00[ASN][1000 genomes]
rs16962681	1.00[ASN][1000 genomes]
rs2421180	1.00[ASN][1000 genomes]
rs28549720	1.00[ASN][1000 genomes]
rs56028245	1.00[ASN][1000 genomes]
rs62093910	1.00[ASN][1000 genomes]
rs62093935	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62093936	1.00[ASN][1000 genomes]
rs62093938	1.00[ASN][1000 genomes]
rs62093944	1.00[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29597400-29600400	Flanking Active TSS	Dnd41	blood
2	chr18:29597600-29599800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr18:29597600-29600600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr18:29597800-29599400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr18:29597800-29599400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr18:29597800-29599600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr18:29597800-29600000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr18:29597800-29600000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr18:29597800-29600000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr18:29597800-29600400	Active TSS	Rectal Smooth Muscle	rectum
11	chr18:29597800-29600600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr18:29597800-29600600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr18:29597800-29600800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr18:29597800-29601000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr18:29598000-29599400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr18:29598000-29599400	Active TSS	Psoas Muscle	Psoas
17	chr18:29598000-29599600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr18:29598000-29599600	Active TSS	Brain Cingulate Gyrus	brain
19	chr18:29598000-29599600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr18:29598000-29599800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr18:29598000-29599800	Flanking Active TSS	HUVEC	blood vessel
22	chr18:29598000-29600000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr18:29598000-29600000	Active TSS	Lung	lung
24	chr18:29598000-29600000	Flanking Active TSS	GM12878-XiMat	blood
25	chr18:29598000-29600600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr18:29598000-29600600	Active TSS	Right Atrium	heart
27	chr18:29598000-29603200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:29598200-29599600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:29598200-29599600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:29598200-29599800	Active TSS	Fetal Intestine Large	intestine
31	chr18:29598200-29599800	Active TSS	Fetal Kidney	kidney
32	chr18:29598200-29599800	Active TSS	Ovary	ovary
33	chr18:29598200-29600000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr18:29598200-29600000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr18:29598200-29600200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr18:29598200-29600200	Active TSS	Esophagus	oesophagus
37	chr18:29598200-29600600	Active TSS	Brain Angular Gyrus	brain
38	chr18:29598400-29599400	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr18:29598400-29599400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:29598400-29599400	Active TSS	Aorta	Aorta
41	chr18:29598400-29599400	Active TSS	HepG2	liver
42	chr18:29598400-29599600	Active TSS	Primary B cells from peripheral blood	blood
43	chr18:29598400-29599600	Active TSS	Fetal Lung	lung
44	chr18:29598400-29599600	Active TSS	Spleen	Spleen
45	chr18:29598400-29599600	Bivalent/Poised TSS	A549	lung
46	chr18:29598400-29599600	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr18:29598400-29599600	Active TSS	NHLF	lung
48	chr18:29598400-29599800	Active TSS	Gastric	stomach
49	chr18:29598400-29599800	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr18:29598400-29599800	Active TSS	Stomach Mucosa	stomach

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