Variant report

Variant	rs16975463
Chromosome Location	chr18:39548656-39548657
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:39546444..39548693-chr18:39549349..39550895,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10502776	1.00[CEU][hapmap]
rs1142044	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11873469	1.00[EUR][1000 genomes]
rs11873602	1.00[EUR][1000 genomes]
rs11874766	1.00[EUR][1000 genomes]
rs11874775	1.00[EUR][1000 genomes]
rs11874814	1.00[EUR][1000 genomes]
rs11874830	1.00[EUR][1000 genomes]
rs11876547	1.00[EUR][1000 genomes]
rs11876578	1.00[EUR][1000 genomes]
rs11877901	1.00[EUR][1000 genomes]
rs1540057	1.00[EUR][1000 genomes]
rs16975441	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16975447	1.00[EUR][1000 genomes]
rs16975466	1.00[EUR][1000 genomes]
rs16975521	1.00[EUR][1000 genomes]
rs2469471	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs490578	1.00[EUR][1000 genomes]
rs493100	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs525369	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs542870	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55655849	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs563840	1.00[EUR][1000 genomes]
rs56411890	1.00[EUR][1000 genomes]
rs56751463	1.00[EUR][1000 genomes]
rs56979511	1.00[EUR][1000 genomes]
rs57208863	1.00[EUR][1000 genomes]
rs575366	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58298297	1.00[EUR][1000 genomes]
rs583163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58390786	1.00[EUR][1000 genomes]
rs584022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs586797	1.00[EUR][1000 genomes]
rs58881642	1.00[EUR][1000 genomes]
rs591870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593689	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59910026	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs608428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs616575	1.00[EUR][1000 genomes]
rs633541	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs635560	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs643772	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs645148	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs647084	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6507453	1.00[EUR][1000 genomes]
rs6507454	1.00[EUR][1000 genomes]
rs655693	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs659950	1.00[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6650669	1.00[EUR][1000 genomes]
rs667346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs669235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs670429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs674380	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs684091	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7229485	1.00[EUR][1000 genomes]
rs7237185	1.00[EUR][1000 genomes]
rs7237815	1.00[EUR][1000 genomes]
rs7238919	1.00[EUR][1000 genomes]
rs7239880	1.00[EUR][1000 genomes]
rs7240066	1.00[EUR][1000 genomes]
rs7241399	1.00[EUR][1000 genomes]
rs7242077	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245131	1.00[EUR][1000 genomes]
rs7343027	1.00[EUR][1000 genomes]
rs73448558	1.00[EUR][1000 genomes]
rs73451096	1.00[EUR][1000 genomes]
rs73452235	1.00[EUR][1000 genomes]
rs73452297	1.00[EUR][1000 genomes]
rs73452300	1.00[EUR][1000 genomes]
rs73453013	1.00[EUR][1000 genomes]
rs73454552	1.00[EUR][1000 genomes]
rs73454573	1.00[EUR][1000 genomes]
rs73454580	1.00[EUR][1000 genomes]
rs73454581	1.00[EUR][1000 genomes]
rs73454593	1.00[EUR][1000 genomes]
rs73454596	1.00[EUR][1000 genomes]
rs73454602	1.00[EUR][1000 genomes]
rs73950814	1.00[EUR][1000 genomes]
rs8084037	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8085708	1.00[EUR][1000 genomes]
rs8089142	1.00[EUR][1000 genomes]
rs8090403	1.00[EUR][1000 genomes]
rs8095945	1.00[EUR][1000 genomes]
rs9948650	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9965647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1066029	chr18:39322920-39623625	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv543686	chr18:39322920-39623625	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909566	chr18:39327962-39688452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv909567	chr18:39470190-39652939	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
2	chr18:39536200-39552400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:39536200-39564800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:39536200-39568600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:39536400-39552400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:39536400-39578200	Weak transcription	A549	lung
7	chr18:39536800-39580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:39537400-39552400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:39537400-39553000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:39537400-39555800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr18:39537600-39552200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr18:39537600-39552800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr18:39537600-39553200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr18:39541600-39549600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr18:39542400-39551000	Strong transcription	Dnd41	blood
17	chr18:39542400-39552400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr18:39543400-39550000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr18:39543600-39549600	Weak transcription	Fetal Kidney	kidney
20	chr18:39543600-39550600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr18:39543600-39550600	Weak transcription	HUVEC	blood vessel
22	chr18:39544400-39552200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:39545000-39549200	Strong transcription	Fetal Intestine Large	intestine
24	chr18:39545000-39551400	Strong transcription	Fetal Thymus	thymus
25	chr18:39545000-39552200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr18:39545000-39552400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr18:39545200-39549200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr18:39545200-39550200	Enhancers	Brain Angular Gyrus	brain
29	chr18:39545200-39555600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:39545400-39551800	Weak transcription	Hela-S3	cervix
31	chr18:39545600-39583600	Weak transcription	Small Intestine	intestine
32	chr18:39546000-39557400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:39546200-39549000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr18:39546200-39563800	Weak transcription	Fetal Heart	heart
35	chr18:39546400-39549000	Strong transcription	Placenta	Placenta
36	chr18:39546400-39551000	Strong transcription	GM12878-XiMat	blood
37	chr18:39546800-39549000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:39546800-39549000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr18:39546800-39551400	Strong transcription	Primary B cells from cord blood	blood
40	chr18:39547000-39549200	Genic enhancers	Fetal Muscle Leg	muscle
41	chr18:39547000-39549200	Enhancers	Psoas Muscle	Psoas
42	chr18:39547000-39550200	Enhancers	Brain Substantia Nigra	brain
43	chr18:39547200-39548800	Strong transcription	HepG2	liver
44	chr18:39547200-39548800	Strong transcription	NHDF-Ad	bronchial
45	chr18:39547200-39549000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:39547400-39549000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr18:39547400-39551000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr18:39547400-39551800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr18:39547400-39564600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr18:39547600-39550000	Weak transcription	HSMMtube	muscle

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