Variant report

Variant	rs73407562
Chromosome Location	chr18:12683468-12683469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4313868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58991139	1.00[AMR][1000 genomes]
rs73403736	1.00[AMR][1000 genomes]
rs73403739	1.00[AMR][1000 genomes]
rs73403744	1.00[AMR][1000 genomes]
rs73405595	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407561	1.00[AMR][1000 genomes]
rs73407563	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv1791969	chr18:12643193-12697711	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr18:12658800-12701800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:12659000-12700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr18:12660000-12692600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr18:12660400-12700800	Weak transcription	Fetal Brain Male	brain
5	chr18:12662800-12701600	Weak transcription	Aorta	Aorta
6	chr18:12665800-12684200	Weak transcription	Pancreas	Pancrea
7	chr18:12667000-12701600	Weak transcription	Gastric	stomach
8	chr18:12668400-12694800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:12668600-12685800	Weak transcription	Brain Hippocampus Middle	brain
10	chr18:12669200-12694200	Weak transcription	A549	lung
11	chr18:12669800-12694200	Weak transcription	Hela-S3	cervix
12	chr18:12672200-12701400	Weak transcription	Colonic Mucosa	Colon
13	chr18:12672400-12687400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr18:12672400-12697200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr18:12673200-12701600	Weak transcription	Psoas Muscle	Psoas
16	chr18:12674200-12693800	Weak transcription	NHEK	skin
17	chr18:12674600-12693800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr18:12674600-12701600	Weak transcription	Right Ventricle	heart
19	chr18:12674600-12701600	Weak transcription	Small Intestine	intestine
20	chr18:12674800-12685000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr18:12674800-12686200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr18:12674800-12700600	Weak transcription	Brain Substantia Nigra	brain
23	chr18:12674800-12701400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr18:12675000-12694000	Weak transcription	Stomach Mucosa	stomach
25	chr18:12676200-12686800	Strong transcription	Thymus	Thymus
26	chr18:12676600-12686800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr18:12677000-12686400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr18:12678200-12701400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr18:12678400-12685000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr18:12678400-12685200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr18:12678400-12686200	Weak transcription	Primary B cells from cord blood	blood
32	chr18:12678400-12686200	Weak transcription	K562	blood
33	chr18:12678400-12692400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:12678400-12692400	Weak transcription	Left Ventricle	heart
35	chr18:12678400-12693800	Weak transcription	HMEC	breast
36	chr18:12678400-12694200	Weak transcription	Placenta	Placenta
37	chr18:12678400-12696800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr18:12678400-12701200	Weak transcription	NH-A	brain
39	chr18:12678400-12701600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:12678400-12701600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr18:12678400-12701600	Weak transcription	HSMMtube	muscle
42	chr18:12679400-12684600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr18:12679600-12683600	Weak transcription	Right Atrium	heart
44	chr18:12679600-12683800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr18:12679600-12683800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr18:12679600-12685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr18:12679600-12686400	Weak transcription	Fetal Kidney	kidney
48	chr18:12679600-12686800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:12679600-12687200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr18:12679600-12687400	Weak transcription	Spleen	Spleen

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