Variant report

Variant	rs28653467
Chromosome Location	chr18:39646013-39646014
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs28509451	1.00[AMR][1000 genomes]
rs28510814	1.00[AMR][1000 genomes]
rs28517511	1.00[AMR][1000 genomes]
rs28628084	1.00[AMR][1000 genomes]
rs8084652	1.00[AMR][1000 genomes]
rs9945936	1.00[AMR][1000 genomes]
rs9950019	1.00[AMR][1000 genomes]
rs9953431	1.00[AMR][1000 genomes]
rs9953953	1.00[AMR][1000 genomes]
rs9958195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9962719	1.00[AMR][1000 genomes]
rs9963325	1.00[AMR][1000 genomes]
rs9963466	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
6	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
7	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
8	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
9	nsv1057988	chr18:39618253-39713904	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv1065792	chr18:39619676-39711798	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv1057790	chr18:39621947-39705550	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv2762006	chr18:39621947-39713916	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv1063952	chr18:39621947-39718600	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv1064973	chr18:39623604-39711798	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	nsv833631	chr18:39633503-39824091	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:39572000-39654400	Weak transcription	Colonic Mucosa	Colon
3	chr18:39578400-39663200	Weak transcription	Fetal Heart	heart
4	chr18:39581000-39647400	Weak transcription	Spleen	Spleen
5	chr18:39581000-39666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:39585000-39658600	Weak transcription	Small Intestine	intestine
7	chr18:39586600-39647400	Weak transcription	Thymus	Thymus
8	chr18:39590600-39668000	Weak transcription	Esophagus	oesophagus
9	chr18:39601600-39668200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:39612200-39647400	Weak transcription	Aorta	Aorta
11	chr18:39612200-39666400	Weak transcription	Gastric	stomach
12	chr18:39612200-39669800	Weak transcription	Fetal Stomach	stomach
13	chr18:39612200-39670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:39615000-39649600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr18:39615400-39663400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr18:39618000-39647400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr18:39619200-39656400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:39619400-39647600	Weak transcription	Brain Germinal Matrix	brain
19	chr18:39619600-39647400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr18:39619800-39662200	Weak transcription	Right Ventricle	heart
21	chr18:39620800-39664200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr18:39621200-39646200	Weak transcription	Lung	lung
23	chr18:39621200-39657200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:39622200-39649400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr18:39628600-39666200	Weak transcription	A549	lung
26	chr18:39629000-39649600	Weak transcription	NHLF	lung
27	chr18:39630600-39647400	Weak transcription	Colon Smooth Muscle	Colon
28	chr18:39630600-39658600	Weak transcription	Hela-S3	cervix
29	chr18:39630800-39646200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr18:39630800-39650200	Weak transcription	Fetal Kidney	kidney
31	chr18:39631000-39647400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:39631200-39646200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:39631200-39647000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr18:39631200-39647200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr18:39631200-39647200	Weak transcription	HepG2	liver
36	chr18:39631200-39647400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr18:39631200-39647400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr18:39631200-39650200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr18:39631200-39659800	Weak transcription	Fetal Brain Male	brain
40	chr18:39631400-39647200	Weak transcription	HMEC	breast
41	chr18:39631400-39650000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr18:39633200-39646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr18:39633200-39652400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr18:39633400-39646200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr18:39633600-39646200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr18:39633600-39647200	Weak transcription	Brain Angular Gyrus	brain
47	chr18:39633600-39647200	Weak transcription	Brain Substantia Nigra	brain
48	chr18:39634000-39647400	Weak transcription	Fetal Intestine Large	intestine
49	chr18:39634000-39647800	Weak transcription	Fetal Intestine Small	intestine
50	chr18:39634800-39674600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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