Variant report

Variant	rs9950673
Chromosome Location	chr18:43416974-43416975
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:43415867-43417082	U87	brain:	n/a	n/a
2	POLR2A	chr18:43415861-43417088	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43408715..43411346-chr18:43413639..43417024,3	MCF-7	breast:

Variant related genes	Relation type
SIGLEC15	TF binding region
ENSG00000197046	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10853537	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11082490	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11082491	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12455488	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12456289	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12458195	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12604912	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1660561	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1790299	0.91[ASN][1000 genomes]
rs2919643	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958437	0.86[ASN][1000 genomes]
rs34185907	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35316177	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs492411	0.91[ASN][1000 genomes]
rs500899	0.88[ASN][1000 genomes]
rs507653	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs570975	0.91[ASN][1000 genomes]
rs571690	0.92[ASN][1000 genomes]
rs61104666	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7233909	0.92[EUR][1000 genomes]
rs8083287	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8085782	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8095439	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8099496	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9958081	0.92[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	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43408400-43417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:43409400-43418000	Weak transcription	NHDF-Ad	bronchial
3	chr18:43409800-43417400	Weak transcription	Pancreas	Pancrea
4	chr18:43410400-43417400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr18:43412000-43417400	Enhancers	Duodenum Mucosa	Duodenum
6	chr18:43412000-43418000	Enhancers	Stomach Mucosa	stomach
7	chr18:43412600-43417400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:43412800-43420000	Enhancers	Primary hematopoietic stem cells	blood
9	chr18:43413000-43419600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:43413200-43417000	Weak transcription	NH-A	brain
11	chr18:43414000-43417200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:43414600-43418400	Enhancers	Liver	Liver
13	chr18:43415000-43417400	Weak transcription	Osteobl	bone
14	chr18:43415000-43417800	Weak transcription	HMEC	breast
15	chr18:43415400-43417400	Enhancers	Gastric	stomach
16	chr18:43415400-43417600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:43415600-43417400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:43415800-43418000	Enhancers	Small Intestine	intestine
19	chr18:43415800-43419600	Enhancers	Spleen	Spleen
20	chr18:43416000-43417400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:43416200-43417000	Weak transcription	Right Ventricle	heart
22	chr18:43416200-43417400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr18:43416200-43417400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr18:43416400-43417200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr18:43416400-43417200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr18:43416400-43417200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:43416400-43417400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr18:43416400-43417400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:43416400-43417400	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr18:43416400-43417400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
31	chr18:43416400-43419000	Enhancers	Lung	lung
32	chr18:43416400-43420000	Bivalent Enhancer	Fetal Thymus	thymus
33	chr18:43416600-43417000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr18:43416600-43417200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:43416600-43417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr18:43416600-43417400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:43416600-43417400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr18:43416600-43417600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:43416600-43417600	Bivalent Enhancer	Fetal Intestine Large	intestine
40	chr18:43416600-43417800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr18:43416600-43418000	Bivalent Enhancer	Fetal Heart	heart
42	chr18:43416800-43417000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
43	chr18:43416800-43417000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
44	chr18:43416800-43417000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
45	chr18:43416800-43417000	Bivalent Enhancer	Brain Angular Gyrus	brain
46	chr18:43416800-43417000	Bivalent Enhancer	Fetal Lung	lung
47	chr18:43416800-43417200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr18:43416800-43417200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr18:43416800-43417400	Enhancers	Right Atrium	heart
50	chr18:43416800-43419000	Bivalent Enhancer	Fetal Stomach	stomach

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