Variant report

Variant	rs11874218
Chromosome Location	chr18:44460314-44460315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs11872317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872376	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872476	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874267	1.00[CHB][hapmap]
rs11874300	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874423	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs11874582	1.00[CHB][hapmap]
rs11874634	1.00[CHB][hapmap]
rs11875032	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875655	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11875703	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11875918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876274	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11876752	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877373	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11877429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877540	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877650	0.82[AFR][1000 genomes]
rs11877721	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11878114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949623	1.00[CHB][hapmap]
rs36129965	1.00[ASN][1000 genomes]
rs3893054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55664322	0.91[AFR][1000 genomes]
rs55752024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819334	0.91[AFR][1000 genomes]
rs55890037	1.00[ASN][1000 genomes]
rs56030315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56055727	1.00[ASN][1000 genomes]
rs56068993	1.00[ASN][1000 genomes]
rs56202233	1.00[ASN][1000 genomes]
rs56333835	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388142	1.00[ASN][1000 genomes]
rs56400973	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7229231	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236403	1.00[CHB][hapmap]
rs7238877	1.00[CHB][hapmap]
rs7240843	1.00[CHB][hapmap]
rs7240909	1.00[CHB][hapmap]
rs7241858	1.00[CHB][hapmap]
rs7243309	1.00[CHB][hapmap]
rs72903209	1.00[ASN][1000 genomes]
rs72903212	1.00[ASN][1000 genomes]
rs72903231	1.00[ASN][1000 genomes]
rs72903232	1.00[ASN][1000 genomes]
rs72903376	1.00[ASN][1000 genomes]
rs72903390	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903401	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905209	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905249	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905251	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905265	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907112	0.91[AFR][1000 genomes]
rs72907114	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907128	0.91[AFR][1000 genomes]
rs72907130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907154	1.00[ASN][1000 genomes]
rs72907155	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909189	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909191	0.91[AFR][1000 genomes]
rs72909195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909201	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911104	0.91[AFR][1000 genomes]
rs72911106	0.91[AFR][1000 genomes]
rs72911111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913063	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915074	0.91[AFR][1000 genomes]
rs72915084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917125	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919298	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921352	1.00[ASN][1000 genomes]
rs72921363	1.00[ASN][1000 genomes]
rs72921366	1.00[ASN][1000 genomes]
rs8088346	1.00[CHB][hapmap]
rs8092148	1.00[CHB][hapmap]
rs8094449	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription 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
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44437200-44461600	Weak transcription	Ovary	ovary
2	chr18:44440400-44468400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:44448000-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:44449000-44468600	Weak transcription	Pancreas	Pancrea
5	chr18:44449000-44468600	Weak transcription	NHLF	lung
6	chr18:44449800-44468400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:44450800-44468600	Weak transcription	Gastric	stomach
8	chr18:44451200-44468400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:44451800-44460400	ZNF genes & repeats	Fetal Muscle Leg	muscle
10	chr18:44453400-44468400	Weak transcription	HSMM	muscle
11	chr18:44454000-44468600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr18:44454400-44468400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:44454600-44460800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr18:44454800-44460400	ZNF genes & repeats	Dnd41	blood
15	chr18:44454800-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:44454800-44460600	Weak transcription	K562	blood
17	chr18:44455400-44460600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr18:44455600-44461200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr18:44456000-44460600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr18:44456200-44466000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr18:44457200-44460400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr18:44457400-44460600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr18:44457600-44468400	Weak transcription	Small Intestine	intestine
24	chr18:44457800-44468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:44457800-44468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:44457800-44468400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:44457800-44468400	Weak transcription	Adipose Nuclei	Adipose
28	chr18:44457800-44468400	Weak transcription	Lung	lung
29	chr18:44457800-44468400	Weak transcription	Psoas Muscle	Psoas
30	chr18:44457800-44468600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:44457800-44468600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:44457800-44468600	Weak transcription	Brain Hippocampus Middle	brain
33	chr18:44457800-44468600	Weak transcription	Left Ventricle	heart
34	chr18:44457800-44468600	Weak transcription	Right Ventricle	heart
35	chr18:44458000-44468200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr18:44458000-44468400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr18:44458000-44468400	Weak transcription	Fetal Thymus	thymus
38	chr18:44458200-44460400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr18:44458200-44468400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr18:44458200-44468400	Weak transcription	Liver	Liver
41	chr18:44458400-44467800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:44458400-44468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr18:44458800-44468400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr18:44458800-44468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:44458800-44468400	Weak transcription	Fetal Stomach	stomach
46	chr18:44458800-44468400	Weak transcription	Thymus	Thymus
47	chr18:44458800-44468800	Weak transcription	Hela-S3	cervix
48	chr18:44459000-44460400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr18:44459000-44460400	ZNF genes & repeats	Fetal Lung	lung
50	chr18:44459200-44460600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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