Variant report

Variant	rs9953845
Chromosome Location	chr18:45662963-45662964
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12965052	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4076363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4076364	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4078130	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs61322349	0.97[ASN][1000 genomes]
rs6507818	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7243021	0.87[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7243437	0.87[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8091725	0.91[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8092444	0.81[CHB][hapmap]
rs8098626	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9951415	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3337566	chr18:45661104-45665102	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45660800-45665000	Active TSS	Rectal Smooth Muscle	rectum
2	chr18:45661400-45663800	Active TSS	Esophagus	oesophagus
3	chr18:45661800-45664000	Active TSS	Colonic Mucosa	Colon
4	chr18:45662000-45663000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
5	chr18:45662000-45663200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:45662000-45663200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr18:45662000-45663200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
8	chr18:45662000-45663200	Flanking Active TSS	Placenta	Placenta
9	chr18:45662000-45663400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr18:45662000-45663400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr18:45662000-45663400	Active TSS	Duodenum Mucosa	Duodenum
12	chr18:45662000-45663400	Bivalent/Poised TSS	Small Intestine	intestine
13	chr18:45662000-45663600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
14	chr18:45662000-45663600	Active TSS	Right Atrium	heart
15	chr18:45662000-45663800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr18:45662000-45663800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr18:45662000-45663800	Active TSS	Brain Anterior Caudate	brain
18	chr18:45662000-45663800	Active TSS	Gastric	stomach
19	chr18:45662000-45664000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr18:45662000-45664000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr18:45662000-45664000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr18:45662000-45664000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr18:45662000-45664000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr18:45662000-45664000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr18:45662000-45664000	Active TSS	Fetal Kidney	kidney
26	chr18:45662000-45664000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr18:45662000-45664200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr18:45662200-45663000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:45662200-45663000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr18:45662200-45663000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr18:45662200-45663000	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr18:45662200-45663200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:45662200-45663200	Flanking Active TSS	Liver	Liver
34	chr18:45662200-45663200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr18:45662200-45663400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
36	chr18:45662200-45663600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:45662200-45663600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr18:45662200-45663600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:45662200-45663600	Active TSS	Aorta	Aorta
40	chr18:45662200-45663600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr18:45662200-45663600	Active TSS	Left Ventricle	heart
42	chr18:45662200-45663800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr18:45662200-45663800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr18:45662200-45663800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr18:45662200-45663800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr18:45662200-45663800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:45662200-45663800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
48	chr18:45662200-45663800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:45662200-45663800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr18:45662200-45663800	Active TSS	Stomach Mucosa	stomach

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