Variant report

Variant	rs2817514
Chromosome Location	chr1:245911867-245911868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12076299	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12117389	0.81[EUR][1000 genomes]
rs12121171	0.86[EUR][1000 genomes]
rs12130577	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs12132331	0.94[EUR][1000 genomes]
rs12136854	0.89[EUR][1000 genomes]
rs1934566	0.85[EUR][1000 genomes]
rs1934569	0.86[AMR][1000 genomes]
rs2791363	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2817511	0.90[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs57310404	0.81[EUR][1000 genomes]
rs60459279	0.81[EUR][1000 genomes]
rs6687296	0.86[AMR][1000 genomes]
rs7545780	0.88[CEU][hapmap];0.95[EUR][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	nsv1007728	chr1:245235174-246156455	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1002499	chr1:245365351-245929051	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497871	chr1:245706209-246655353	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv534412	chr1:245747724-246655416	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1003594	chr1:245801793-246649329	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv2752867	chr1:245829959-245932959	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1004412	chr1:245830921-246169054	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv535385	chr1:245830921-246169054	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv873404	chr1:245850095-245964511	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1006103	chr1:245881486-245968405	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv998007	chr1:245884759-245989362	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv949722	chr1:245898622-245997919	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr1:245906400-245914200	Weak transcription	Placenta	Placenta
2	chr1:245906400-245914200	Weak transcription	NH-A	brain
3	chr1:245906400-245928400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:245906600-245913400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:245906600-245913400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:245906800-245914200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:245907000-245914200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:245907800-245914400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:245908600-245925800	Weak transcription	HepG2	liver
10	chr1:245908800-245913400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:245909600-245915000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:245909800-245917800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:245909800-245927600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:245910000-245914800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:245910000-245918000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:245910000-245932200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:245910200-245914800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:245910200-245935200	Weak transcription	Ovary	ovary
19	chr1:245910400-245912600	Weak transcription	Fetal Intestine Large	intestine
20	chr1:245910400-245928400	Weak transcription	NHLF	lung
21	chr1:245910400-245934600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:245910600-245913600	Weak transcription	Psoas Muscle	Psoas
23	chr1:245910800-245926600	Weak transcription	Brain Angular Gyrus	brain
24	chr1:245911000-245912200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:245911000-245913400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:245911000-245914000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:245911000-245914600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:245911200-245912000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:245911200-245912200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr1:245911200-245912200	ZNF genes & repeats	Liver	Liver
31	chr1:245911200-245912200	Strong transcription	Osteobl	bone
32	chr1:245911200-245914200	Strong transcription	K562	blood
33	chr1:245911200-245935000	Weak transcription	Right Ventricle	heart
34	chr1:245911400-245913000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:245911400-245913800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:245911600-245912000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:245911600-245912000	Strong transcription	Lung	lung
38	chr1:245911600-245912400	Weak transcription	Primary T cells from cord blood	blood
39	chr1:245911600-245913000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:245911600-245916000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:245911800-245912000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:245911800-245912200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:245911800-245912800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:245911800-245913600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:245911800-245924400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:245911800-245943600	Weak transcription	Dnd41	blood

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