Variant report

Variant	rs9962439
Chromosome Location	chr18:7946963-7946964
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10163540	1.00[JPT][hapmap]
rs12963759	1.00[JPT][hapmap]
rs1443601	1.00[CEU][hapmap]
rs2289685	1.00[ASN][1000 genomes]
rs57007178	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58209325	0.91[ASN][1000 genomes]
rs59782869	0.91[ASN][1000 genomes]
rs73383811	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73383815	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73383816	0.91[ASN][1000 genomes]
rs73383819	0.91[ASN][1000 genomes]
rs73383830	0.91[ASN][1000 genomes]
rs73383831	0.91[ASN][1000 genomes]
rs73383833	0.91[ASN][1000 genomes]
rs73383834	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8092268	1.00[CEU][hapmap]
rs9949799	1.00[CEU][hapmap]
rs9955279	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9956344	0.91[ASN][1000 genomes]
rs9956981	1.00[JPT][hapmap]
rs9964734	1.00[CEU][hapmap]
rs9966320	0.91[ASN][1000 genomes]
rs9972988	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7932200-7961000	Weak transcription	HepG2	liver
2	chr18:7937600-7947000	Weak transcription	Thymus	Thymus
3	chr18:7937600-7949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:7937600-7955200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr18:7941400-7955000	Weak transcription	Psoas Muscle	Psoas
6	chr18:7941800-7966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:7942200-7955200	Weak transcription	Fetal Muscle Leg	muscle
10	chr18:7945400-7948000	Enhancers	Small Intestine	intestine
11	chr18:7945600-7947200	Enhancers	Colon Smooth Muscle	Colon
12	chr18:7945600-7947200	Enhancers	Fetal Stomach	stomach
13	chr18:7945600-7947800	Enhancers	HUVEC	blood vessel
14	chr18:7945600-7950400	Weak transcription	Left Ventricle	heart
15	chr18:7945800-7947200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr18:7945800-7947200	Enhancers	Stomach Mucosa	stomach
17	chr18:7945800-7947800	Enhancers	Right Ventricle	heart
18	chr18:7946000-7947000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr18:7946000-7948000	Enhancers	Pancreas	Pancrea
20	chr18:7946200-7947200	Flanking Active TSS	NHDF-Ad	bronchial
21	chr18:7946200-7947400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:7946200-7947400	Flanking Active TSS	Osteobl	bone
23	chr18:7946200-7947800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr18:7946200-7958200	Weak transcription	Aorta	Aorta
25	chr18:7946400-7947000	Enhancers	Primary hematopoietic stem cells	blood
26	chr18:7946400-7947200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr18:7946400-7947400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:7946400-7947400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:7946400-7947400	Active TSS	Brain Cingulate Gyrus	brain
30	chr18:7946400-7947400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr18:7946400-7947400	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr18:7946400-7948000	Flanking Active TSS	A549	lung
33	chr18:7946600-7947000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:7946600-7947000	Active TSS	Primary T cells from cord blood	blood
35	chr18:7946600-7947000	Active TSS	Primary T cells fromperipheralblood	blood
36	chr18:7946600-7947000	Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr18:7946600-7947000	Active TSS	Brain Anterior Caudate	brain
38	chr18:7946600-7947000	Active TSS	Brain Hippocampus Middle	brain
39	chr18:7946600-7947000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr18:7946600-7947000	Flanking Active TSS	Fetal Kidney	kidney
41	chr18:7946600-7947200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr18:7946600-7947200	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr18:7946600-7947200	Enhancers	Fetal Heart	heart
44	chr18:7946600-7947200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr18:7946600-7947400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr18:7946600-7947400	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr18:7946600-7947400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:7946600-7947400	Active TSS	Brain Substantia Nigra	brain
49	chr18:7946600-7947600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr18:7946600-7947600	Flanking Active TSS	Hela-S3	cervix

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