Variant report

Variant	rs12955211
Chromosome Location	chr18:25572105-25572106
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1662731	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17445819	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17445833	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17445840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17445973	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17446036	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17446064	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17446134	0.91[JPT][hapmap]
rs17446162	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17446176	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17446218	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17446337	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17446358	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17446372	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17446386	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17446435	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17468226	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17468268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17468324	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17468469	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17468601	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17468650	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17468755	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17468811	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2298574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2586577	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28365282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28365284	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28365300	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs3786420	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs505314	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6508523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7238774	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8095618	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs9646566	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1066192	chr18:25454413-25606736	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv543669	chr18:25454413-25606736	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv833605	chr18:25467096-25643447	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
2	chr18:25536400-25578200	Weak transcription	Fetal Brain Male	brain
3	chr18:25536800-25574200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:25540800-25576400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:25542800-25574400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr18:25544400-25572400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr18:25545600-25588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr18:25548800-25574600	Strong transcription	NH-A	brain
9	chr18:25549400-25574000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:25553000-25593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:25555600-25574200	Weak transcription	Brain Anterior Caudate	brain
12	chr18:25556200-25574600	Weak transcription	Brain Angular Gyrus	brain
13	chr18:25556200-25586800	Weak transcription	Spleen	Spleen
14	chr18:25556200-25592800	Weak transcription	Aorta	Aorta
15	chr18:25556200-25595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:25556400-25576400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:25556400-25584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr18:25557200-25575000	Weak transcription	Gastric	stomach
19	chr18:25558800-25583600	Weak transcription	Right Ventricle	heart
20	chr18:25559400-25574400	Strong transcription	Liver	Liver
21	chr18:25561800-25574000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:25562800-25574000	Strong transcription	HSMM	muscle
23	chr18:25564800-25591400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr18:25565000-25592800	Weak transcription	A549	lung
25	chr18:25565200-25572400	Weak transcription	Brain Hippocampus Middle	brain
26	chr18:25565200-25580000	Weak transcription	Ovary	ovary
27	chr18:25565200-25591800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:25565400-25572400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr18:25565600-25572600	Weak transcription	Brain Substantia Nigra	brain
30	chr18:25565600-25572600	Weak transcription	HUVEC	blood vessel
31	chr18:25566000-25572200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr18:25566200-25572600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:25566400-25572400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr18:25566400-25572400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr18:25566400-25584600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr18:25566600-25578400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:25567200-25572400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr18:25567800-25574200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr18:25568400-25572400	Weak transcription	Left Ventricle	heart
40	chr18:25570800-25574000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr18:25571000-25572200	Enhancers	Fetal Intestine Small	intestine
42	chr18:25571000-25573600	Strong transcription	Fetal Brain Female	brain
43	chr18:25571000-25573600	Genic enhancers	Fetal Heart	heart
44	chr18:25571400-25574400	Strong transcription	Osteobl	bone
45	chr18:25571600-25572400	Genic enhancers	HepG2	liver
46	chr18:25571600-25573600	Strong transcription	Dnd41	blood
47	chr18:25571600-25573600	Strong transcription	HSMMtube	muscle
48	chr18:25571600-25588800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr18:25571800-25572200	Genic enhancers	Brain Germinal Matrix	brain
50	chr18:25571800-25572800	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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