Variant report

Variant	rs683468
Chromosome Location	chr18:12862395-12862396
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:34)

rs_ID	r²[population]
rs2292758	0.83[ASN][1000 genomes]
rs2847288	0.80[ASN][1000 genomes]
rs3826556	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45579734	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs471401	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4797707	0.96[ASN][1000 genomes]
rs4797708	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs502763	0.89[EUR][1000 genomes]
rs507304	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs578377	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs579052	0.97[AFR][1000 genomes]
rs58200120	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59471125	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607906	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622717	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs637643	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505769	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs669822	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670671	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238238	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7241650	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73950681	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73950683	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73950684	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73950685	0.84[ASN][1000 genomes]
rs8084365	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8091305	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8098730	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9954778	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9959061	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9959425	0.92[AFR][1000 genomes]
rs9961827	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9961931	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9966378	0.88[ASN][1000 genomes]

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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12829000-12862600	Weak transcription	Brain Germinal Matrix	brain
2	chr18:12838600-12862400	Weak transcription	NH-A	brain
3	chr18:12838600-12862600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:12838800-12879000	Weak transcription	Psoas Muscle	Psoas
5	chr18:12839600-12862600	Weak transcription	HSMM	muscle
6	chr18:12840000-12863800	Weak transcription	Brain Anterior Caudate	brain
7	chr18:12841000-12863200	Weak transcription	Colonic Mucosa	Colon
8	chr18:12841400-12863400	Weak transcription	Esophagus	oesophagus
9	chr18:12844200-12879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr18:12844400-12862600	Weak transcription	K562	blood
11	chr18:12844600-12862400	Weak transcription	Small Intestine	intestine
12	chr18:12847200-12862600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:12849000-12862600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:12852000-12863200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:12852400-12862600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr18:12852400-12862600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:12852400-12863000	Weak transcription	NHLF	lung
18	chr18:12854400-12862400	Weak transcription	Left Ventricle	heart
19	chr18:12854800-12864000	Weak transcription	Brain Substantia Nigra	brain
20	chr18:12856400-12862800	Weak transcription	Osteobl	bone
21	chr18:12856600-12862400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:12856600-12862800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr18:12856600-12863000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:12856600-12863400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr18:12856600-12863600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:12856600-12863600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr18:12857000-12863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:12857400-12862600	Weak transcription	Lung	lung
29	chr18:12857400-12863000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:12857400-12863600	Weak transcription	Aorta	Aorta
31	chr18:12857400-12863800	Enhancers	Fetal Thymus	thymus
32	chr18:12857400-12872000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr18:12857600-12862400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:12857600-12862600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr18:12857800-12862400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:12857800-12862400	Weak transcription	Gastric	stomach
37	chr18:12857800-12862400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr18:12857800-12862600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:12857800-12862600	Weak transcription	Spleen	Spleen
40	chr18:12857800-12863000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr18:12857800-12866200	Weak transcription	HSMMtube	muscle
42	chr18:12857800-12867600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr18:12857800-12881600	Weak transcription	Fetal Stomach	stomach
44	chr18:12858000-12872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:12858200-12862400	Weak transcription	Hela-S3	cervix
46	chr18:12858400-12862400	Weak transcription	Liver	Liver
47	chr18:12858400-12862600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr18:12858400-12862600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr18:12858400-12862800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr18:12858400-12862800	Weak transcription	Rectal Mucosa Donor 31	rectum

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