Variant report

Variant	rs2151342
Chromosome Location	chr9:17368850-17368851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10756868	0.85[YRI][hapmap]
rs10810745	0.85[EUR][1000 genomes]
rs10810746	0.85[EUR][1000 genomes]
rs10810755	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10810757	0.86[YRI][hapmap]
rs10810758	0.80[YRI][hapmap]
rs10810759	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10810760	0.84[YRI][hapmap]
rs10810762	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10810766	0.90[YRI][hapmap]
rs10810767	0.90[YRI][hapmap]
rs10810772	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10810776	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10810780	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10962944	0.81[EUR][1000 genomes]
rs10962949	0.80[EUR][1000 genomes]
rs10962956	0.83[EUR][1000 genomes]
rs10962958	0.82[EUR][1000 genomes]
rs10962959	0.83[EUR][1000 genomes]
rs10962993	0.83[EUR][1000 genomes]
rs10962994	0.83[EUR][1000 genomes]
rs10962996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs10962998	0.88[EUR][1000 genomes]
rs10962999	0.88[EUR][1000 genomes]
rs10963000	0.85[EUR][1000 genomes]
rs10963001	0.81[EUR][1000 genomes]
rs10963005	0.82[EUR][1000 genomes]
rs10963015	1.00[CEU][hapmap];0.84[YRI][hapmap];0.88[EUR][1000 genomes]
rs10963017	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10963018	0.86[EUR][1000 genomes]
rs10963019	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs10963022	0.88[EUR][1000 genomes]
rs10963025	0.88[EUR][1000 genomes]
rs10963030	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10963031	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10963034	0.85[YRI][hapmap]
rs10963036	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10963039	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10963040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10963041	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10963045	0.81[CEU][hapmap];0.90[YRI][hapmap]
rs10963046	0.92[YRI][hapmap]
rs10963048	0.90[YRI][hapmap]
rs10963049	0.90[YRI][hapmap]
rs10963050	0.90[YRI][hapmap]
rs10963060	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10963064	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10963065	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10963069	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10963072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10963073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10963077	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10963078	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11515075	0.88[EUR][1000 genomes]
rs11523716	0.84[EUR][1000 genomes]
rs1160340	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11789418	0.80[EUR][1000 genomes]
rs11789741	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11789786	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11791000	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11795325	0.84[EUR][1000 genomes]
rs12156444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12376505	0.85[EUR][1000 genomes]
rs12376938	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs12376973	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12377081	0.88[EUR][1000 genomes]
rs12377334	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12378677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12379538	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12379655	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12551355	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12553516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12555618	0.86[YRI][hapmap]
rs12555830	0.87[ASN][1000 genomes]
rs13283291	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13283891	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13285577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13285704	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13286311	0.85[EUR][1000 genomes]
rs13286365	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13287407	0.88[EUR][1000 genomes]
rs13289670	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13289755	0.81[EUR][1000 genomes]
rs13289968	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13290659	1.00[CEU][hapmap]
rs13292365	0.83[EUR][1000 genomes]
rs13292380	0.83[EUR][1000 genomes]
rs13292550	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs13294241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13298547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13301284	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1372703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs1442516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs1442517	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1442528	0.85[YRI][hapmap]
rs17755748	0.88[EUR][1000 genomes]
rs17828423	0.88[EUR][1000 genomes]
rs17829280	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1953106	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1967356	1.00[JPT][hapmap]
rs2027014	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2095156	0.88[EUR][1000 genomes]
rs2184063	0.84[EUR][1000 genomes]
rs2383013	0.85[EUR][1000 genomes]
rs2584538	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2584540	0.82[AMR][1000 genomes]
rs34189605	0.81[EUR][1000 genomes]
rs34256131	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs34502029	0.84[EUR][1000 genomes]
rs34597155	0.81[EUR][1000 genomes]
rs34768018	0.84[EUR][1000 genomes]
rs35375281	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35601090	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35884270	0.88[EUR][1000 genomes]
rs35968717	0.85[EUR][1000 genomes]
rs35998538	0.84[EUR][1000 genomes]
rs36051199	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36063154	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36077273	0.82[EUR][1000 genomes]
rs36088847	0.87[ASN][1000 genomes]
rs3739490	0.95[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs3808791	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs3808795	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4317676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4375098	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs4405013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4574939	0.83[EUR][1000 genomes]
rs4626705	0.85[EUR][1000 genomes]
rs4961559	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs58474114	0.88[EUR][1000 genomes]
rs59833414	0.84[EUR][1000 genomes]
rs61565870	0.89[EUR][1000 genomes]
rs62558297	0.81[EUR][1000 genomes]
rs62558300	0.82[EUR][1000 genomes]
rs62558301	0.82[EUR][1000 genomes]
rs62558320	0.81[EUR][1000 genomes]
rs62558354	0.88[EUR][1000 genomes]
rs62558966	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026852	0.84[EUR][1000 genomes]
rs7028577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7031442	0.87[ASN][1000 genomes]
rs7041659	0.86[EUR][1000 genomes]
rs7041744	0.85[EUR][1000 genomes]
rs7042230	0.88[EUR][1000 genomes]
rs7867175	0.88[EUR][1000 genomes]
rs894379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv466270	chr9:17236376-17377629	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv613694	chr9:17236376-17377629	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv892665	chr9:17250170-17371690	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv466271	chr9:17329964-17438391	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv613696	chr9:17329964-17438391	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1015524	chr9:17350843-17419424	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17338800-17371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:17341400-17369600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:17355600-17372200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:17362000-17369400	Weak transcription	Fetal Kidney	kidney
5	chr9:17362000-17372600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:17362000-17394600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:17364600-17369000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr9:17364600-17376800	Weak transcription	Hela-S3	cervix
9	chr9:17365000-17369400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:17365000-17370000	Strong transcription	Fetal Stomach	stomach
11	chr9:17365000-17373600	Weak transcription	HSMM	muscle
12	chr9:17365600-17369200	Strong transcription	Left Ventricle	heart
13	chr9:17365600-17370000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:17365600-17370200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:17366000-17369000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:17366200-17369000	Weak transcription	NHLF	lung
17	chr9:17366800-17370000	Strong transcription	Ovary	ovary
18	chr9:17367000-17369000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:17367000-17369000	Strong transcription	Fetal Lung	lung
20	chr9:17367000-17369000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr9:17367000-17369000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr9:17367000-17369400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:17367000-17369800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr9:17367000-17370600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:17367000-17371400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:17367200-17369200	Strong transcription	Fetal Muscle Leg	muscle
27	chr9:17367200-17369400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:17367200-17369400	Strong transcription	Fetal Intestine Small	intestine
29	chr9:17367200-17371600	Strong transcription	Liver	Liver
30	chr9:17367400-17369000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:17367600-17371200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:17368000-17369000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:17368000-17369000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:17368000-17369200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:17368000-17373000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:17368200-17369000	Weak transcription	Gastric	stomach
37	chr9:17368200-17369200	Weak transcription	Spleen	Spleen
38	chr9:17368200-17370400	Weak transcription	Brain Anterior Caudate	brain
39	chr9:17368200-17373800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:17368200-17377200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:17368400-17370000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr9:17368400-17370000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:17368400-17370000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr9:17368400-17373200	Weak transcription	Fetal Intestine Large	intestine
45	chr9:17368400-17373400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr9:17368400-17394600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:17368400-17457800	Weak transcription	Pancreas	Pancrea
48	chr9:17368600-17369800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:17368600-17369800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:17368600-17371200	Weak transcription	Right Ventricle	heart

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