Variant report

Variant	rs694943
Chromosome Location	chr18:25626303-25626304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10502507	0.83[CHB][hapmap]
rs1078501	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10853680	0.82[CHB][hapmap]
rs10853681	0.82[CHB][hapmap]
rs1122356	1.00[CHB][hapmap]
rs1148376	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11564297	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11564316	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11564330	0.83[CHB][hapmap]
rs11564396	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11564400	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11564409	0.94[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs11564412	0.83[CHB][hapmap]
rs11564413	0.83[CHB][hapmap]
rs11873053	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1220015	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1220016	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1220019	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1220146	0.86[CEU][hapmap]
rs1228419	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1234682	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1238755	0.83[ASN][1000 genomes]
rs1373136	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1373138	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1443450	0.83[CHB][hapmap]
rs1443453	0.82[CHB][hapmap]
rs17446001	0.83[CHB][hapmap]
rs17446316	0.91[ASN][1000 genomes]
rs17463233	0.83[CHB][hapmap]
rs17468531	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17468636	0.83[CHB][hapmap]
rs1816825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1867285	0.82[CHB][hapmap]
rs1972934	0.82[CHB][hapmap]
rs2053599	0.83[CHB][hapmap]
rs2218361	0.83[CHB][hapmap]
rs2920447	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4598992	0.82[CHB][hapmap]
rs4800838	0.82[CHB][hapmap]
rs4800840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4800841	0.82[CHB][hapmap]
rs490820	1.00[CHB][hapmap]
rs500643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs533602	0.94[CHB][hapmap]
rs539075	0.88[CEU][hapmap];0.93[CHB][hapmap]
rs565509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568575	0.94[CHB][hapmap]
rs576467	0.86[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs584936	0.94[CHB][hapmap]
rs587526	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs587613	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs597591	1.00[CHB][hapmap]
rs602819	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs610906	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs614966	1.00[CHB][hapmap]
rs623234	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs643555	0.94[CHB][hapmap]
rs647733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs656642	1.00[CHB][hapmap]
rs665651	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs665781	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs673008	1.00[CHB][hapmap]
rs683457	1.00[CEU][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7230771	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7237382	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs8087457	0.85[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs8087860	0.94[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs8091314	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8091763	0.83[CHB][hapmap]
rs8092004	0.83[CHB][hapmap]
rs9635986	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9789154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9789221	0.82[CHB][hapmap]

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	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	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25617000-25628800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr18:25618400-25631600	Weak transcription	Fetal Brain Male	brain
3	chr18:25620400-25627400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:25620400-25627600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:25620400-25629200	Weak transcription	Left Ventricle	heart
6	chr18:25621600-25628200	Weak transcription	Fetal Brain Female	brain
7	chr18:25621800-25628200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:25623600-25627600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:25623600-25627600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:25624400-25627400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr18:25624800-25627400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:25624800-25627400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr18:25625000-25626600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr18:25625000-25627400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr18:25625800-25628400	Weak transcription	Liver	Liver
16	chr18:25625800-25628400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr18:25625800-25628400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr18:25625800-25628600	Weak transcription	Fetal Kidney	kidney
19	chr18:25625800-25628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:25625800-25630800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:25625800-25643400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:25625800-25650400	Weak transcription	Right Atrium	heart
23	chr18:25626000-25626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr18:25626000-25627400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr18:25626000-25627400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr18:25626000-25627800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr18:25626000-25628200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr18:25626000-25628400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr18:25626000-25628600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:25626000-25629800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr18:25626000-25643200	Weak transcription	HUVEC	blood vessel
32	chr18:25626200-25627200	Enhancers	NH-A	brain
33	chr18:25626200-25628200	Weak transcription	Brain Angular Gyrus	brain
34	chr18:25626200-25628200	Weak transcription	Brain Germinal Matrix	brain
35	chr18:25626200-25628200	Weak transcription	Brain Hippocampus Middle	brain
36	chr18:25626200-25628200	Weak transcription	Brain Substantia Nigra	brain
37	chr18:25626200-25628200	Weak transcription	A549	lung
38	chr18:25626200-25628400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:25626200-25628400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr18:25626200-25628400	Weak transcription	Brain Anterior Caudate	brain
41	chr18:25626200-25628800	Weak transcription	Fetal Heart	heart
42	chr18:25626200-25629200	Weak transcription	HSMM	muscle
43	chr18:25626200-25630800	Weak transcription	Osteobl	bone

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