Variant report

Variant	rs9807625
Chromosome Location	chr18:8006441-8006442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10153331	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10468772	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10853358	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10853359	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11081352	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11081354	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11081355	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11081356	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11081358	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12185338	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs12956937	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12959661	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1296003	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1297388	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1470323	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1596383	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1942958	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1942959	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1942960	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2156236	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34398246	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs478396	0.84[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4798607	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs486607	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs488952	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs490065	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs491890	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs492841	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs493221	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs499764	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5000485	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs502843	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs503388	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs506248	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs507445	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs511993	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs545910	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs552448	0.88[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs561488	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs567523	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs575538	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs576519	0.88[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs583909	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs615129	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs616698	0.89[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs618104	0.91[JPT][hapmap]
rs618466	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs619379	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs620346	0.89[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs623258	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs629391	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs630924	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs635157	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs641089	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6417046	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs649598	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6506542	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6506545	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6506546	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs658110	0.88[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs674823	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs680016	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs681491	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs693630	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7230785	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7234055	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7240054	0.82[JPT][hapmap]
rs8082776	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8088126	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8088354	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8089387	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8093262	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9807298	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9965286	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv909359	chr18:8001853-8064021	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7987600-8033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:8001000-8007600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:8001400-8006600	Weak transcription	Lung	lung
4	chr18:8001400-8029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:8001400-8029200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:8003200-8006600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:8003200-8006600	Enhancers	Brain Germinal Matrix	brain
8	chr18:8003400-8006800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr18:8003600-8006800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:8004200-8007600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr18:8004200-8020200	Weak transcription	Pancreas	Pancrea
12	chr18:8004200-8029000	Weak transcription	Gastric	stomach
13	chr18:8004400-8016200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:8004600-8020200	Weak transcription	Fetal Lung	lung
15	chr18:8004800-8010400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:8004800-8016200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:8004800-8016800	Weak transcription	Aorta	Aorta
18	chr18:8004800-8020200	Weak transcription	Adipose Nuclei	Adipose
19	chr18:8005000-8020800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:8005200-8007600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr18:8005400-8006800	Enhancers	Fetal Brain Male	brain
22	chr18:8005600-8006800	Enhancers	Left Ventricle	heart
23	chr18:8005800-8006800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr18:8005800-8006800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr18:8005800-8009000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:8005800-8009200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:8006000-8006600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr18:8006000-8006600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr18:8006000-8007000	Enhancers	Fetal Kidney	kidney
30	chr18:8006200-8006800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr18:8006200-8006800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:8006200-8006800	Enhancers	Right Ventricle	heart
33	chr18:8006200-8007200	Enhancers	Psoas Muscle	Psoas
34	chr18:8006200-8007400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr18:8006200-8012400	Weak transcription	Right Atrium	heart
36	chr18:8006400-8006600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr18:8006400-8006600	Enhancers	Brain Anterior Caudate	brain
38	chr18:8006400-8007000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:8006400-8007200	Enhancers	A549	lung

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