Variant report

Variant	rs16954914
Chromosome Location	chr18:9278180-9278181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1046483	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10502391	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1114591	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11659948	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12326829	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1443597	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1443598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16954886	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16954905	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17413344	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17498752	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[ASN][1000 genomes]
rs17498969	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17499116	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1899668	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2120316	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2298548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs28520663	1.00[ASN][1000 genomes]
rs28578690	0.82[ASN][1000 genomes]
rs28619483	0.93[ASN][1000 genomes]
rs28637808	0.93[ASN][1000 genomes]
rs2864515	0.96[ASN][1000 genomes]
rs28820062	0.86[ASN][1000 genomes]
rs28844999	0.86[ASN][1000 genomes]
rs3213925	1.00[ASN][1000 genomes]
rs3744822	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3744823	1.00[ASN][1000 genomes]
rs4356535	1.00[ASN][1000 genomes]
rs4449017	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4490062	0.96[ASN][1000 genomes]
rs5011606	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56996721	0.89[ASN][1000 genomes]
rs57567668	0.93[ASN][1000 genomes]
rs58350342	0.86[ASN][1000 genomes]
rs59018067	1.00[ASN][1000 genomes]
rs59616258	1.00[ASN][1000 genomes]
rs59633812	1.00[ASN][1000 genomes]
rs59864974	0.93[ASN][1000 genomes]
rs60119987	1.00[ASN][1000 genomes]
rs60143204	0.89[ASN][1000 genomes]
rs60354371	1.00[ASN][1000 genomes]
rs62085951	0.93[ASN][1000 genomes]
rs6506651	0.86[ASN][1000 genomes]
rs7229105	0.89[ASN][1000 genomes]
rs7234017	0.86[ASN][1000 genomes]
rs7235358	1.00[ASN][1000 genomes]
rs7237039	0.86[ASN][1000 genomes]
rs7242002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7242624	0.86[ASN][1000 genomes]
rs72935260	0.82[ASN][1000 genomes]
rs72935263	0.82[ASN][1000 genomes]
rs72935265	0.82[ASN][1000 genomes]
rs72935266	0.82[ASN][1000 genomes]
rs72935267	0.82[ASN][1000 genomes]
rs72935274	0.86[ASN][1000 genomes]
rs72937244	0.89[ASN][1000 genomes]
rs72937245	0.89[ASN][1000 genomes]
rs72937248	0.89[ASN][1000 genomes]
rs72937250	0.89[ASN][1000 genomes]
rs72937257	0.85[ASN][1000 genomes]
rs72937258	1.00[ASN][1000 genomes]
rs72937259	1.00[ASN][1000 genomes]
rs72937263	1.00[ASN][1000 genomes]
rs72937267	1.00[ASN][1000 genomes]
rs72937270	1.00[ASN][1000 genomes]
rs72937287	1.00[ASN][1000 genomes]
rs72937291	1.00[ASN][1000 genomes]
rs72937297	1.00[ASN][1000 genomes]
rs72937301	1.00[ASN][1000 genomes]
rs72937302	1.00[ASN][1000 genomes]
rs72939207	1.00[ASN][1000 genomes]
rs72939211	1.00[ASN][1000 genomes]
rs72939216	1.00[ASN][1000 genomes]
rs72939219	1.00[ASN][1000 genomes]
rs72939220	1.00[ASN][1000 genomes]
rs72939221	1.00[ASN][1000 genomes]
rs72939224	1.00[ASN][1000 genomes]
rs72939227	1.00[ASN][1000 genomes]
rs72939230	1.00[ASN][1000 genomes]
rs72939231	1.00[ASN][1000 genomes]
rs72939232	1.00[ASN][1000 genomes]
rs72939235	1.00[ASN][1000 genomes]
rs72939239	1.00[ASN][1000 genomes]
rs7505002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7506375	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7506561	0.86[ASN][1000 genomes]
rs8089057	0.86[ASN][1000 genomes]
rs8094979	0.86[ASN][1000 genomes]
rs8096630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8098516	0.86[ASN][1000 genomes]
rs8098544	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8099583	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652921	0.86[ASN][1000 genomes]
rs9675513	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs9748482	0.86[ASN][1000 genomes]
rs9748485	0.96[ASN][1000 genomes]
rs9748751	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1055696	chr18:9191679-9309805	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv2201	chr18:9247631-9279825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr18:9192200-9284000	Weak transcription	NHEK	skin
2	chr18:9216000-9289600	Weak transcription	HMEC	breast
3	chr18:9234400-9280400	Weak transcription	Psoas Muscle	Psoas
4	chr18:9234800-9290000	Weak transcription	NHLF	lung
5	chr18:9235000-9285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:9240800-9279800	Weak transcription	Colon Smooth Muscle	Colon
7	chr18:9243600-9283000	Weak transcription	Brain Substantia Nigra	brain
8	chr18:9254800-9280000	Weak transcription	Hela-S3	cervix
9	chr18:9255000-9281400	Weak transcription	HUVEC	blood vessel
10	chr18:9255000-9282600	Weak transcription	A549	lung
11	chr18:9258600-9279000	Weak transcription	Fetal Brain Male	brain
12	chr18:9260200-9285600	Weak transcription	Small Intestine	intestine
13	chr18:9261400-9283400	Weak transcription	Fetal Heart	heart
14	chr18:9264600-9281600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr18:9265000-9286000	Weak transcription	K562	blood
16	chr18:9265200-9278600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:9265200-9281200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr18:9265200-9281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:9265200-9284200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr18:9265200-9286600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr18:9265400-9286800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:9265400-9287200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr18:9265600-9278400	Weak transcription	Gastric	stomach
24	chr18:9265600-9278400	Weak transcription	Spleen	Spleen
25	chr18:9265600-9280000	Weak transcription	Colonic Mucosa	Colon
26	chr18:9265600-9282200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:9265600-9282600	Weak transcription	Right Ventricle	heart
28	chr18:9265600-9288400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:9265600-9289600	Weak transcription	Esophagus	oesophagus
30	chr18:9265600-9291200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:9265600-9292400	Weak transcription	Aorta	Aorta
32	chr18:9265600-9298200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:9265800-9286800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr18:9265800-9290000	Weak transcription	HSMMtube	muscle
35	chr18:9270400-9280600	Strong transcription	Fetal Muscle Leg	muscle
36	chr18:9270400-9281000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr18:9270400-9281200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr18:9270400-9283400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr18:9270400-9284200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr18:9270400-9284800	Strong transcription	Liver	Liver
41	chr18:9270800-9279800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr18:9270800-9281000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:9270800-9281200	Strong transcription	Fetal Intestine Large	intestine
44	chr18:9270800-9281400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:9270800-9281600	Strong transcription	Placenta	Placenta
46	chr18:9270800-9281800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr18:9270800-9284400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr18:9270800-9284400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:9271000-9281200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr18:9271000-9281800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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