Variant report

Variant	rs776697
Chromosome Location	chr15:42349472-42349473
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42273351..42275852-chr15:42348244..42350332,2	MCF-7	breast:
2	chr15:42281453..42282403-chr15:42348797..42349914,6	K562	blood:
3	chr15:42281405..42281926-chr15:42348985..42349752,2	MCF-7	breast:
4	chr15:42281382..42282364-chr15:42348961..42349921,14	MCF-7	breast:
5	chr15:42284477..42286944-chr15:42348245..42350387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188089	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12593957	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1474063	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1599955	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618007	0.91[CHB][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1668542	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668543	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668544	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668545	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668546	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1668574	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1668587	0.98[ASN][1000 genomes]
rs1668588	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1668597	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1668598	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1712412	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1712413	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1712414	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1712415	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1712416	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1712427	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs1712431	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1712433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1712438	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55818565	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58770075	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs632900	0.86[ASN][1000 genomes]
rs72727720	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72727721	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72727723	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72727724	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72727725	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74008961	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs776686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs776690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs776693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs776701	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8028419	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs810325	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases
6	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1043641	chr15:42336584-42381240	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv904131	chr15:42343794-42390223	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv904132	chr15:42343794-42398046	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42343000-42357600	Weak transcription	Lung	lung
2	chr15:42348800-42349600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr15:42348800-42349800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr15:42348800-42350200	Enhancers	Fetal Heart	heart
5	chr15:42349000-42349600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:42349000-42349600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr15:42349000-42349600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
8	chr15:42349000-42349600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
9	chr15:42349000-42349600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr15:42349000-42349600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
11	chr15:42349000-42349600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:42349000-42349600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr15:42349000-42349600	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr15:42349000-42349600	Bivalent Enhancer	Fetal Brain Male	brain
15	chr15:42349000-42349600	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr15:42349000-42349600	Enhancers	Fetal Lung	lung
17	chr15:42349000-42349600	Flanking Active TSS	Placenta	Placenta
18	chr15:42349000-42349600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr15:42349000-42349600	Flanking Active TSS	HMEC	breast
20	chr15:42349000-42349600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr15:42349000-42349600	Flanking Active TSS	NHEK	skin
22	chr15:42349000-42349800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr15:42349000-42349800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:42349000-42349800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:42349000-42349800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:42349000-42349800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr15:42349000-42349800	Bivalent/Poised TSS	Fetal Brain Female	brain
28	chr15:42349000-42349800	Active TSS	Right Ventricle	heart
29	chr15:42349000-42349800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr15:42349000-42349800	Flanking Active TSS	HUVEC	blood vessel
31	chr15:42349000-42350000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:42349000-42350000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr15:42349000-42350000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr15:42349000-42350200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:42349000-42350200	Active TSS	A549	lung
36	chr15:42349000-42350600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr15:42349200-42349600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
38	chr15:42349200-42349600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
39	chr15:42349200-42349600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr15:42349200-42349600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:42349200-42349600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr15:42349200-42349600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
43	chr15:42349200-42349600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr15:42349200-42349600	Enhancers	Liver	Liver
45	chr15:42349200-42349600	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr15:42349200-42349600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr15:42349200-42349600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:42349200-42349600	Flanking Active TSS	Colonic Mucosa	Colon
49	chr15:42349200-42349600	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr15:42349200-42349600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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