Variant report

Variant	rs12476889
Chromosome Location	chr2:87005537-87005538
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:87004183..87006528-chr2:87007653..87009681,2	K562	blood:
2	chr2:87002968..87006528-chr2:87006846..87010010,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10175293	0.83[ASN][1000 genomes]
rs10177148	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10197244	0.83[ASN][1000 genomes]
rs10201581	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10207306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10207541	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10208436	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12467185	1.00[AFR][1000 genomes]
rs12477946	1.00[EUR][1000 genomes]
rs13410422	0.83[ASN][1000 genomes]
rs13411177	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13412314	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13413566	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13416756	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13430105	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13431959	0.83[ASN][1000 genomes]
rs2367368	0.83[ASN][1000 genomes]
rs28662199	0.83[ASN][1000 genomes]
rs28851847	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs28889570	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4402760	0.83[ASN][1000 genomes]
rs6735599	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7349247	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7420475	1.00[AFR][1000 genomes]
rs7570057	0.83[ASN][1000 genomes]
rs7577266	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1007307	chr2:86974563-87055214	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv535809	chr2:86974563-87055214	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1003748	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv535810	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv1004572	chr2:86975514-87082883	Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv535811	chr2:86975514-87082883	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86975800-87006600	Weak transcription	NH-A	brain
2	chr2:86981600-87007000	Weak transcription	NHDF-Ad	bronchial
3	chr2:86984200-87006000	Weak transcription	Ovary	ovary
4	chr2:86984600-87007600	Weak transcription	Psoas Muscle	Psoas
5	chr2:86988800-87006200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:86998200-87005800	Weak transcription	Right Ventricle	heart
7	chr2:86998200-87007000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:86998400-87005600	Weak transcription	Spleen	Spleen
9	chr2:86998400-87009000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:86998600-87007000	Weak transcription	Fetal Kidney	kidney
11	chr2:86998800-87008600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:87000000-87005800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:87000200-87005800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:87000200-87006000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:87000200-87007000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:87000400-87008400	Weak transcription	HSMM	muscle
17	chr2:87000800-87006200	Weak transcription	HMEC	breast
18	chr2:87000800-87006800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:87001400-87014800	Weak transcription	Brain Substantia Nigra	brain
20	chr2:87001600-87008400	Weak transcription	K562	blood
21	chr2:87001800-87007200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:87002000-87006200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:87002000-87010600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:87002000-87012600	Weak transcription	Placenta	Placenta
25	chr2:87002200-87006600	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:87002200-87007400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:87002200-87008400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:87002200-87014800	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:87002400-87006400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:87002400-87006400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:87002400-87006600	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:87002600-87008800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:87002600-87011000	Weak transcription	Colonic Mucosa	Colon
34	chr2:87002800-87005800	Weak transcription	Lung	lung
35	chr2:87002800-87006000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:87002800-87006000	Weak transcription	Brain Germinal Matrix	brain
37	chr2:87002800-87006000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:87002800-87006000	Weak transcription	A549	lung
39	chr2:87002800-87006000	Weak transcription	Osteobl	bone
40	chr2:87002800-87006200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:87002800-87006600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:87002800-87006600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:87002800-87008200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:87002800-87010600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:87002800-87015200	Weak transcription	Brain Angular Gyrus	brain
46	chr2:87003000-87006600	Weak transcription	HepG2	liver
47	chr2:87003000-87006600	Weak transcription	HSMMtube	muscle
48	chr2:87003000-87006800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:87003200-87005600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:87003200-87006200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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