Variant report

Variant	rs40356
Chromosome Location	chr14:71357624-71357625
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12100735	0.82[AMR][1000 genomes]
rs12880570	0.82[AMR][1000 genomes]
rs12881446	0.94[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs12884478	0.82[AMR][1000 genomes]
rs12889463	0.94[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes]
rs12892577	0.94[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs12892737	0.82[AMR][1000 genomes]
rs12893638	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12897499	0.82[AMR][1000 genomes]
rs17108917	0.82[AMR][1000 genomes]
rs17108930	0.94[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs2240532	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs2240534	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes]
rs2286308	0.87[AMR][1000 genomes]
rs2286309	0.82[AMR][1000 genomes]
rs2286313	0.87[AMR][1000 genomes]
rs2286315	0.82[AMR][1000 genomes]
rs34219222	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34548016	0.82[AMR][1000 genomes]
rs34761065	0.94[AMR][1000 genomes]
rs35432764	0.82[AMR][1000 genomes]
rs35561518	0.82[AMR][1000 genomes]
rs35614357	0.83[AMR][1000 genomes]
rs35719396	0.82[AMR][1000 genomes]
rs35806656	0.94[AMR][1000 genomes]
rs36556	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36557	0.89[CHB][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs36561	0.91[ASN][1000 genomes]
rs36564	0.91[ASN][1000 genomes]
rs36565	0.94[ASN][1000 genomes]
rs36566	0.94[ASN][1000 genomes]
rs56832842	0.82[AMR][1000 genomes]
rs57537113	0.82[AMR][1000 genomes]
rs58435681	0.82[AMR][1000 genomes]
rs59216102	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71425301	0.82[AMR][1000 genomes]
rs8022928	0.85[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.82[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	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71350600-71373000	Weak transcription	Spleen	Spleen
2	chr14:71351800-71361000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:71351800-71365200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:71353200-71365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:71353600-71360800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:71354000-71360000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:71354400-71359600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:71354400-71359800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:71354600-71358400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:71354600-71360000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:71354800-71363800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:71355000-71357800	Enhancers	GM12878-XiMat	blood
13	chr14:71355000-71371600	Weak transcription	Placenta	Placenta
14	chr14:71355600-71361000	Weak transcription	Small Intestine	intestine
15	chr14:71355600-71361200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:71355800-71359200	Weak transcription	Primary T cells from cord blood	blood
17	chr14:71355800-71361400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:71356000-71359200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:71356000-71359400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:71356000-71359400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:71356000-71361400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:71356000-71361400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:71356200-71358000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:71356200-71358000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:71356200-71358600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr14:71356200-71360000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:71356200-71361600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:71356400-71357800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:71356400-71359400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:71356400-71361600	Weak transcription	NH-A	brain
31	chr14:71356600-71357800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:71356600-71358000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:71356600-71358400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:71356600-71361400	Weak transcription	NHDF-Ad	bronchial
35	chr14:71356600-71361400	Weak transcription	Osteobl	bone
36	chr14:71356600-71363600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:71356600-71363800	Weak transcription	NHLF	lung
38	chr14:71356800-71363800	Weak transcription	HMEC	breast
39	chr14:71357000-71358400	Enhancers	Primary hematopoietic stem cells	blood
40	chr14:71357400-71358200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr14:71357400-71358800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:71357400-71359000	Enhancers	Fetal Heart	heart
43	chr14:71357400-71359000	Weak transcription	Fetal Thymus	thymus
44	chr14:71357400-71359000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr14:71357400-71360000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr14:71357400-71362200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:71357400-71362600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr14:71357600-71357800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr14:71357600-71358200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:71357600-71358600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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