Variant report

Variant	rs10502361
Chromosome Location	chr18:7822840-7822841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10502363	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1443615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16952551	1.00[JPT][hapmap]
rs2083561	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2218368	0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs28859109	0.88[ASN][1000 genomes]
rs331417	0.83[ASN][1000 genomes]
rs56310854	0.88[ASN][1000 genomes]
rs7235300	0.81[JPT][hapmap]
rs9946064	0.88[ASN][1000 genomes]
rs9947733	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9947984	0.88[ASN][1000 genomes]
rs9950595	0.88[ASN][1000 genomes]
rs9953101	0.81[ASN][1000 genomes]
rs9953491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9955771	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1062454	chr18:7784432-7838015	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7810200-7824200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:7815400-7843800	Weak transcription	A549	lung
3	chr18:7815600-7824800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:7815600-7826400	Weak transcription	HepG2	liver
5	chr18:7818200-7839400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:7820000-7826200	Enhancers	Right Ventricle	heart
7	chr18:7820600-7825000	Enhancers	Psoas Muscle	Psoas
8	chr18:7820800-7823000	Weak transcription	Fetal Stomach	stomach
9	chr18:7820800-7824000	Weak transcription	Pancreas	Pancrea
10	chr18:7821000-7823000	Weak transcription	Spleen	Spleen
11	chr18:7821000-7824000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:7821200-7823400	Enhancers	Colon Smooth Muscle	Colon
13	chr18:7821600-7825200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr18:7821800-7823200	Enhancers	Aorta	Aorta
15	chr18:7821800-7823400	Enhancers	HSMMtube	muscle
16	chr18:7821800-7836200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:7822000-7824200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr18:7822200-7823200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr18:7822200-7823400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr18:7822400-7823000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr18:7822400-7823000	Flanking Active TSS	Osteobl	bone
22	chr18:7822400-7823200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:7822400-7823200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:7822400-7823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:7822400-7823200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr18:7822400-7823400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:7822400-7823400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr18:7822400-7823400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr18:7822400-7823400	Enhancers	Fetal Lung	lung
30	chr18:7822400-7823600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr18:7822400-7824400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:7822400-7825000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:7822400-7825400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:7822400-7826200	Enhancers	Left Ventricle	heart
35	chr18:7822600-7823000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:7822600-7823000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:7822600-7823000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:7822600-7823000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:7822600-7823000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr18:7822600-7823000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr18:7822600-7823000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr18:7822600-7823000	Flanking Active TSS	Fetal Thymus	thymus
43	chr18:7822600-7823000	Active TSS	Stomach Smooth Muscle	stomach
44	chr18:7822600-7823000	Flanking Active TSS	Thymus	Thymus
45	chr18:7822600-7823000	Enhancers	NHLF	lung
46	chr18:7822600-7823200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr18:7822600-7823200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr18:7822600-7823200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr18:7822600-7823200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr18:7822600-7823200	Enhancers	Small Intestine	intestine

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