Variant report

Variant	rs12063215
Chromosome Location	chr1:10591067-10591068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr1:10590335-10591505	IMR90	lung:	n/a	n/a
2	POLR2A	chr1:10589861-10591347	K562	blood:	n/a	n/a
3	RAD21	chr1:10590113-10591441	IMR90	lung:	n/a	n/a
4	MAFK	chr1:10590509-10591452	IMR90	lung:	n/a	chr1:10591287-10591304
5	SMC3	chr1:10589870-10591137	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:10589627..10591241-chr1:10607715..10610040,2	K562	blood:
2	chr1:10585162..10588309-chr1:10589608..10593566,5	K562	blood:
3	chr1:10577532..10580475-chr1:10590665..10593408,2	K562	blood:
4	chr1:10589309..10591508-chr1:10651161..10652770,2	MCF-7	breast:

Variant related genes	Relation type
PEX14	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10436982	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12057729	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12090079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091086	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13375411	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17035154	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28435785	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28522839	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28663566	0.93[ASN][1000 genomes]
rs57986045	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61776045	0.80[EUR][1000 genomes]
rs61776260	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61776261	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61777175	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61777176	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61777177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61777178	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61777205	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61777209	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6540934	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6540935	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6664032	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6679456	0.80[EUR][1000 genomes]
rs6680568	0.80[EUR][1000 genomes]
rs7512333	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7524983	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7534960	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7551790	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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 target site	26 gene(s)	inside rSNPs	diseases
5	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv2521	chr1:10553530-10598171	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription 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	9 gene(s)	inside rSNPs	diseases
7	nsv545395	chr1:10584672-10613660	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10570800-10595600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:10572200-10598600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:10573400-10596000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:10576400-10596000	Weak transcription	Dnd41	blood
5	chr1:10577000-10603600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:10577400-10596400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:10579400-10610200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:10579600-10596200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:10580800-10596000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:10580800-10596200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:10582600-10595800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:10582600-10596200	Weak transcription	Thymus	Thymus
13	chr1:10583000-10595800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:10584400-10592000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:10584400-10596000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:10584600-10594200	Weak transcription	K562	blood
17	chr1:10584800-10603800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:10585200-10603600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:10585200-10603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:10586200-10595600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:10587600-10592000	Enhancers	Left Ventricle	heart
22	chr1:10587800-10591200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:10587800-10591600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:10587800-10591600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:10587800-10591600	Enhancers	Fetal Heart	heart
26	chr1:10587800-10592000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:10588000-10591200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:10588000-10591600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:10588000-10592000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:10588000-10592000	Enhancers	Fetal Muscle Leg	muscle
31	chr1:10588000-10592400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:10588000-10592600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:10588000-10593000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:10588200-10591200	Enhancers	Liver	Liver
35	chr1:10588200-10591600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:10588400-10591400	Enhancers	Fetal Kidney	kidney
37	chr1:10588400-10596200	Weak transcription	Lung	lung
38	chr1:10588400-10598200	Weak transcription	Pancreas	Pancrea
39	chr1:10588600-10591200	Enhancers	Brain Hippocampus Middle	brain
40	chr1:10588600-10596400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:10588800-10596400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:10588800-10599200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:10589000-10591400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:10589000-10591800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:10589000-10596400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:10589000-10600000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:10589200-10598600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:10589400-10591200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr1:10589400-10591200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:10589400-10595600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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