Variant report

Variant	rs8040296
Chromosome Location	chr15:31279159-31279160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10047979	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1043251	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1524877	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303407	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2339046	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2860452	0.95[EUR][1000 genomes]
rs2955778	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955781	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955788	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955789	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2959053	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35971048	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs565	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6493352	0.87[EUR][1000 genomes]
rs7173892	0.87[EUR][1000 genomes]
rs7183478	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8028528	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1046874	chr15:31008133-31294654	Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
10	nsv903834	chr15:31179534-31293774	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv832952	chr15:31204426-31333998	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31242000-31282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:31248800-31283000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:31250200-31282200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr15:31250800-31282400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:31251200-31282400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:31251600-31282200	Weak transcription	Hela-S3	cervix
7	chr15:31252800-31282400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:31256000-31282400	Weak transcription	Fetal Brain Male	brain
9	chr15:31262200-31282200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:31267800-31282000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:31273000-31279600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:31274800-31280000	Strong transcription	Fetal Intestine Large	intestine
13	chr15:31274800-31280400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr15:31275000-31279400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:31275000-31281400	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr15:31275400-31280800	Strong transcription	Primary hematopoietic stem cells	blood
17	chr15:31275600-31279800	Genic enhancers	Liver	Liver
18	chr15:31275600-31280200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:31276000-31279200	Enhancers	Psoas Muscle	Psoas
20	chr15:31276800-31279400	Enhancers	Fetal Heart	heart
21	chr15:31276800-31279400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
22	chr15:31276800-31280400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr15:31277000-31279200	Strong transcription	Fetal Intestine Small	intestine
24	chr15:31277000-31280600	Enhancers	Right Ventricle	heart
25	chr15:31277000-31282200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr15:31277200-31279200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:31277200-31279600	Strong transcription	A549	lung
28	chr15:31277200-31280200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr15:31277200-31280200	Strong transcription	Dnd41	blood
30	chr15:31277200-31280600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:31277200-31280600	Genic enhancers	Thymus	Thymus
32	chr15:31277200-31282200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr15:31277400-31279200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:31277400-31279200	Genic enhancers	Gastric	stomach
35	chr15:31277400-31279200	Genic enhancers	Lung	lung
36	chr15:31277400-31279200	Genic enhancers	Spleen	Spleen
37	chr15:31277400-31280600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:31277400-31282200	Weak transcription	Brain Germinal Matrix	brain
39	chr15:31277600-31279200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr15:31277600-31279200	Genic enhancers	Brain Anterior Caudate	brain
41	chr15:31277600-31280200	Genic enhancers	Placenta	Placenta
42	chr15:31277600-31280600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:31277600-31282200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr15:31277800-31279200	Strong transcription	Fetal Stomach	stomach
45	chr15:31277800-31279400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:31277800-31279600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:31277800-31279800	Strong transcription	NHEK	skin
48	chr15:31277800-31280000	Strong transcription	Fetal Thymus	thymus
49	chr15:31277800-31280400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr15:31277800-31280600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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