Variant report

Variant	rs12476827
Chromosome Location	chr2:148759348-148759349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1015096	0.97[EUR][1000 genomes]
rs10186643	0.86[EUR][1000 genomes]
rs10497026	0.92[ASN][1000 genomes]
rs10497029	0.84[ASN][1000 genomes]
rs11886876	0.97[EUR][1000 genomes]
rs11896010	0.98[EUR][1000 genomes]
rs12053401	0.98[EUR][1000 genomes]
rs12105411	0.80[EUR][1000 genomes]
rs12463554	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12469015	0.86[ASN][1000 genomes]
rs12469509	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12469621	0.80[ASN][1000 genomes]
rs12469939	0.86[ASN][1000 genomes]
rs12472459	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12473564	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12691776	0.87[ASN][1000 genomes]
rs12989250	0.98[EUR][1000 genomes]
rs12997165	0.97[EUR][1000 genomes]
rs13001158	0.92[ASN][1000 genomes]
rs13003171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13004041	0.86[ASN][1000 genomes]
rs13006184	0.81[ASN][1000 genomes]
rs13006721	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13007770	0.97[EUR][1000 genomes]
rs13008838	0.98[EUR][1000 genomes]
rs13012455	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13013887	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13014936	0.98[EUR][1000 genomes]
rs13015552	0.92[ASN][1000 genomes]
rs13021605	0.98[EUR][1000 genomes]
rs13022962	0.97[EUR][1000 genomes]
rs13027200	0.84[ASN][1000 genomes]
rs13028348	0.98[EUR][1000 genomes]
rs13029038	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13029714	0.84[ASN][1000 genomes]
rs13032303	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13032786	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13032810	0.98[EUR][1000 genomes]
rs13033664	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13035475	0.98[EUR][1000 genomes]
rs1598207	0.99[EUR][1000 genomes]
rs16828270	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs16828354	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1975748	0.95[EUR][1000 genomes]
rs2122386	0.91[ASN][1000 genomes]
rs2168145	0.96[EUR][1000 genomes]
rs2382201	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2382211	0.84[ASN][1000 genomes]
rs2890915	0.98[EUR][1000 genomes]
rs4417662	0.97[EUR][1000 genomes]
rs4972320	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972321	0.97[EUR][1000 genomes]
rs4972332	0.84[ASN][1000 genomes]
rs6430281	0.98[EUR][1000 genomes]
rs6430282	0.98[EUR][1000 genomes]
rs6724719	0.99[EUR][1000 genomes]
rs6729804	0.88[EUR][1000 genomes]
rs6732463	0.99[EUR][1000 genomes]
rs6746415	0.98[EUR][1000 genomes]
rs71350069	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72855232	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7425436	0.93[EUR][1000 genomes]
rs7560425	0.98[EUR][1000 genomes]
rs7568811	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7574180	0.88[ASN][1000 genomes]
rs7583759	0.92[ASN][1000 genomes]
rs7595286	0.84[ASN][1000 genomes]
rs7598361	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897172	0.97[EUR][1000 genomes]
rs9789434	0.95[EUR][1000 genomes]
rs9789640	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 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
26	nsv1005805	chr2:148755022-148842566	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv535976	chr2:148755022-148842566	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS 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
28	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak 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	11 gene(s)	inside rSNPs	diseases
29	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
30	esv3361276	chr2:148756269-148781613	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription 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

No data

Chromatin state (count:46 , 50 per page) page: 1

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	chr2:148728200-148773400	Weak transcription	K562	blood
5	chr2:148736000-148776800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:148736400-148765600	Weak transcription	A549	lung
7	chr2:148739000-148759800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:148748000-148771400	Weak transcription	Fetal Kidney	kidney
9	chr2:148750800-148764000	Weak transcription	Left Ventricle	heart
10	chr2:148753400-148760200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:148753400-148763400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:148753400-148764400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:148753400-148764600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:148753400-148765200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:148753400-148765800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:148753400-148775800	Weak transcription	Thymus	Thymus
17	chr2:148753400-148776400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:148753400-148776400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:148753400-148777600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:148753600-148763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:148753600-148763400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:148753600-148763800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:148754000-148765000	Weak transcription	Fetal Intestine Large	intestine
24	chr2:148754600-148764200	Weak transcription	HepG2	liver
25	chr2:148754800-148762200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:148755000-148764200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:148756000-148764200	Weak transcription	Right Atrium	heart
28	chr2:148756200-148759800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:148756200-148762800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:148756200-148763600	Weak transcription	Ovary	ovary
31	chr2:148756200-148763800	Weak transcription	Esophagus	oesophagus
32	chr2:148756400-148768800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:148756600-148763600	Weak transcription	Primary T cells from cord blood	blood
34	chr2:148757200-148764200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:148757200-148764200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:148757200-148770400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:148757200-148777600	Weak transcription	Small Intestine	intestine
38	chr2:148757600-148776200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:148758000-148759400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:148758400-148764200	Weak transcription	Pancreas	Pancrea
41	chr2:148758600-148759400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:148758600-148764200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:148758600-148774200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:148758800-148775400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:148759000-148764200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:148759000-148775400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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