Variant report

Variant	rs9789640
Chromosome Location	chr2:148753501-148753502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1015096	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10178849	0.83[ASN][1000 genomes]
rs10186643	0.88[EUR][1000 genomes]
rs10199458	0.83[ASN][1000 genomes]
rs1030317	0.81[ASN][1000 genomes]
rs11886876	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11896010	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11901963	0.81[ASN][1000 genomes]
rs11902430	0.80[ASN][1000 genomes]
rs12053401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12104822	0.81[ASN][1000 genomes]
rs12105411	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12463554	0.98[EUR][1000 genomes]
rs12470955	0.81[ASN][1000 genomes]
rs12473564	0.97[EUR][1000 genomes]
rs12476827	0.98[EUR][1000 genomes]
rs12691772	0.88[ASN][1000 genomes]
rs12691773	0.83[ASN][1000 genomes]
rs12691774	0.81[ASN][1000 genomes]
rs12691775	0.81[ASN][1000 genomes]
rs12989250	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12990262	0.81[ASN][1000 genomes]
rs12992231	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12992412	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12995413	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12997165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13003171	0.97[EUR][1000 genomes]
rs13007770	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13008838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13012311	0.81[ASN][1000 genomes]
rs13012455	0.97[EUR][1000 genomes]
rs13014936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13015655	0.81[ASN][1000 genomes]
rs13021605	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13022962	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13028348	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13029038	0.96[EUR][1000 genomes]
rs13032786	0.94[EUR][1000 genomes]
rs13032810	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13033589	0.81[ASN][1000 genomes]
rs13033664	0.98[EUR][1000 genomes]
rs13034793	0.81[ASN][1000 genomes]
rs13035475	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1449959	0.80[ASN][1000 genomes]
rs1598207	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1823447	0.81[ASN][1000 genomes]
rs1901014	0.81[ASN][1000 genomes]
rs1975748	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2168145	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2382201	0.98[EUR][1000 genomes]
rs2890915	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35283425	0.81[ASN][1000 genomes]
rs4001	0.81[ASN][1000 genomes]
rs4417662	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4436897	0.81[ASN][1000 genomes]
rs4972318	0.81[ASN][1000 genomes]
rs4972320	0.97[EUR][1000 genomes]
rs4972321	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972322	0.83[ASN][1000 genomes]
rs6430281	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6430282	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6430285	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6430286	0.83[ASN][1000 genomes]
rs6430289	0.81[ASN][1000 genomes]
rs6430292	0.81[ASN][1000 genomes]
rs6430295	0.82[ASN][1000 genomes]
rs6714672	0.81[ASN][1000 genomes]
rs6724719	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6729804	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6730641	0.83[ASN][1000 genomes]
rs6732463	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6746415	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71350069	0.97[EUR][1000 genomes]
rs72855232	0.97[EUR][1000 genomes]
rs7425436	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7560425	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7569780	0.88[ASN][1000 genomes]
rs7592576	0.83[ASN][1000 genomes]
rs7595067	0.83[ASN][1000 genomes]
rs7598361	0.98[EUR][1000 genomes]
rs897172	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9789434	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1000246	chr2:148669162-148780280	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers 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
7	nsv535968	chr2:148669162-148780280	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1002358	chr2:148703807-148942372	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1004169	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv535970	chr2:148705700-148811850	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1007683	chr2:148717347-148942372	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv535971	chr2:148717347-148942372	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv869326	chr2:148727068-148859804	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv817366	chr2:148727068-148879681	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1000852	chr2:148730825-148934986	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv535972	chr2:148730825-148934986	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1009807	chr2:148731025-148829378	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv535973	chr2:148731025-148829378	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1009696	chr2:148739650-148805668	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv535974	chr2:148739650-148805668	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv1011381	chr2:148739850-148805529	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv535975	chr2:148739850-148805529	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv999777	chr2:148740742-148809464	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv916766	chr2:148743880-148955720	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv1015003	chr2:148745734-148839653	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148694200-148777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:148709400-148776800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:148721400-148763600	Weak transcription	Spleen	Spleen
4	chr2:148722800-148756400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:148728200-148773400	Weak transcription	K562	blood
6	chr2:148736000-148776800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:148736400-148765600	Weak transcription	A549	lung
8	chr2:148739000-148759800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:148741200-148758000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:148741600-148755800	Weak transcription	Ovary	ovary
11	chr2:148741600-148756200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:148741800-148757400	Weak transcription	Aorta	Aorta
13	chr2:148742200-148755800	Weak transcription	Gastric	stomach
14	chr2:148742400-148755800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:148742400-148756000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:148743600-148757800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:148743600-148757800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:148744400-148754200	Weak transcription	HepG2	liver
19	chr2:148744600-148755800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:148747400-148758600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:148748000-148754200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:148748000-148771400	Weak transcription	Fetal Kidney	kidney
23	chr2:148748200-148755800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:148748200-148756600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:148748400-148755600	Weak transcription	Liver	Liver
26	chr2:148750000-148756200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:148750200-148754200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:148750800-148753800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:148750800-148754200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:148750800-148755800	Weak transcription	Psoas Muscle	Psoas
31	chr2:148750800-148758000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:148750800-148764000	Weak transcription	Left Ventricle	heart
33	chr2:148751400-148758600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:148751800-148754400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:148752000-148753600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr2:148752000-148755000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:148752400-148753600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:148752400-148753600	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr2:148752400-148753600	ZNF genes & repeats	Fetal Thymus	thymus
40	chr2:148752600-148754600	Strong transcription	Primary T cells from cord blood	blood
41	chr2:148752600-148754800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:148752600-148754800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:148752600-148755000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr2:148752600-148755000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr2:148752800-148753600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:148752800-148753600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:148752800-148753600	ZNF genes & repeats	Brain Germinal Matrix	brain
48	chr2:148752800-148753600	ZNF genes & repeats	Fetal Stomach	stomach
49	chr2:148752800-148754000	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr2:148753000-148753600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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