Variant report

Variant	rs16958557
Chromosome Location	chr18:45392010-45392011
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	chr18:45391818..45394321-chr18:45399787..45402085,2	MCF-7	breast:
2	chr18:45379137..45382377-chr18:45391896..45394821,3	K562	blood:

Variant related genes	Relation type
ENSG00000267541	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1051066	1.00[EUR][1000 genomes]
rs16958447	1.00[EUR][1000 genomes]
rs16958453	1.00[EUR][1000 genomes]
rs16958460	1.00[EUR][1000 genomes]
rs16958463	1.00[EUR][1000 genomes]
rs16958475	1.00[EUR][1000 genomes]
rs16958497	1.00[EUR][1000 genomes]
rs16958498	1.00[EUR][1000 genomes]
rs16958499	1.00[EUR][1000 genomes]
rs16958520	1.00[EUR][1000 genomes]
rs16958543	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958545	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958551	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958568	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958585	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958615	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958643	0.94[AFR][1000 genomes]
rs17815568	0.94[AFR][1000 genomes]
rs1970666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7232994	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72914353	0.97[AFR][1000 genomes]
rs8084846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057722	chr18:45343965-45401360	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1058673	chr18:45360012-45404492	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1059186	chr18:45360012-45407405	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1066394	chr18:45368587-45394386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1060581	chr18:45368587-45397623	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1057525	chr18:45368587-45407405	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1064282	chr18:45369857-45404768	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv1064797	chr18:45372027-45394386	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1063859	chr18:45372027-45404492	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1062318	chr18:45374239-45394780	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1055814	chr18:45374239-45395377	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1057298	chr18:45374239-45404428	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1062731	chr18:45374239-45404768	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1058128	chr18:45374658-45394780	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1065607	chr18:45374658-45404751	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1059619	chr18:45384301-45401360	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1066646	chr18:45384301-45406242	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1057028	chr18:45384301-45410482	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1057181	chr18:45387616-45401360	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1063791	chr18:45387616-45404428	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv1059120	chr18:45387616-45404768	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv1062089	chr18:45387616-45407754	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv1064124	chr18:45387616-45410760	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv1059902	chr18:45387723-45401360	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv1057124	chr18:45387723-45404428	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
26	nsv1064655	chr18:45387723-45406182	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv1066562	chr18:45388621-45401360	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
28	nsv1067147	chr18:45388621-45404768	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv1065234	chr18:45389554-45407966	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:45372200-45396000	Weak transcription	NHLF	lung
4	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
5	chr18:45383000-45396600	Strong transcription	Hela-S3	cervix
6	chr18:45383600-45392400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:45384200-45398800	Weak transcription	Pancreas	Pancrea
8	chr18:45384200-45421200	Weak transcription	Gastric	stomach
9	chr18:45384200-45423000	Weak transcription	Lung	lung
10	chr18:45384400-45392200	Strong transcription	HSMM	muscle
11	chr18:45384400-45397600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr18:45384400-45397800	Weak transcription	Small Intestine	intestine
13	chr18:45384400-45400200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:45384400-45401200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
16	chr18:45384400-45419600	Weak transcription	K562	blood
17	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
18	chr18:45384600-45396600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr18:45384600-45399000	Weak transcription	Right Atrium	heart
20	chr18:45384800-45392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:45384800-45392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr18:45384800-45396800	Weak transcription	Colon Smooth Muscle	Colon
23	chr18:45384800-45400200	Weak transcription	Brain Substantia Nigra	brain
24	chr18:45384800-45407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
26	chr18:45385400-45396800	Weak transcription	Stomach Mucosa	stomach
27	chr18:45385400-45400000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr18:45385600-45400000	Weak transcription	Brain Hippocampus Middle	brain
29	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
30	chr18:45385800-45394000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr18:45385800-45396000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr18:45386200-45392600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr18:45386400-45401800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr18:45386600-45394200	Weak transcription	Osteobl	bone
35	chr18:45386600-45395800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr18:45386600-45396800	Weak transcription	NHEK	skin
37	chr18:45386600-45397400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:45386800-45392400	Strong transcription	Fetal Lung	lung
39	chr18:45386800-45393400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:45386800-45394800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:45386800-45395600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr18:45386800-45395800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr18:45386800-45397800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
46	chr18:45387000-45393400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr18:45387000-45394800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:45387000-45395800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:45387000-45396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:45387000-45397000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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