Variant report

Variant	rs6581444
Chromosome Location	chr12:62651791-62651792
allele	A/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	POLR2A	chr12:62651249-62655395	K562	blood:	n/a	n/a
2	POLR2A	chr12:62651239-62655699	PBDE	blood:	n/a	n/a
3	ARID3A	chr12:62650356-62652111	K562	blood:	n/a	n/a
4	CUX1	chr12:62651200-62651885	K562	blood:	n/a	chr12:62651569-62651580
5	IRF1	chr12:62651182-62652103	K562	blood:	n/a	n/a
6	IRF1	chr12:62651709-62651909	K562	blood:	n/a	n/a

Variant related genes	Relation type
USP15	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10431509	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10431510	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10431565	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10747958	1.00[CEU][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10877819	0.83[ASN][1000 genomes]
rs10877824	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10877829	1.00[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10877831	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11174397	0.84[ASN][1000 genomes]
rs11174398	0.85[ASN][1000 genomes]
rs11174399	0.85[ASN][1000 genomes]
rs11174401	1.00[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174404	0.95[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174408	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11174411	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174412	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174416	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174417	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174420	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174423	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11174424	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11174428	1.00[CEU][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11174433	0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11174435	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11174438	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11504121	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11561463	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11830242	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12228015	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12231778	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12299072	0.91[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12306066	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12307900	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12310318	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12310616	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1376342	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1496859	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1901239	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2131434	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2132651	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2242032	0.82[ASN][1000 genomes]
rs7132814	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7133294	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7137068	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7302033	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7302617	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953967	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7965326	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7976058	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7976608	0.87[ASN][1000 genomes]
rs902971	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62643600-62652800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:62644800-62653000	Weak transcription	Left Ventricle	heart
3	chr12:62645000-62653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:62645200-62652000	Weak transcription	Fetal Kidney	kidney
5	chr12:62645200-62653200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:62645400-62652600	Weak transcription	NHEK	skin
7	chr12:62645400-62652800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:62645400-62652800	Weak transcription	Fetal Thymus	thymus
9	chr12:62645600-62652800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:62645800-62652000	Weak transcription	Dnd41	blood
11	chr12:62646000-62652600	Weak transcription	Adipose Nuclei	Adipose
12	chr12:62646000-62652800	Weak transcription	Liver	Liver
13	chr12:62646200-62652600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:62646400-62652200	Weak transcription	GM12878-XiMat	blood
15	chr12:62647000-62653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:62647000-62653200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:62649400-62652200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:62649400-62653000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:62649600-62652600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:62649800-62652400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:62650000-62651800	Enhancers	Fetal Heart	heart
22	chr12:62650000-62653200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:62650200-62652400	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:62650200-62652600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:62650200-62652600	Enhancers	Primary T cells from cord blood	blood
26	chr12:62650200-62652600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:62650200-62652600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr12:62650200-62652600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:62650200-62652800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:62650200-62652800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:62650200-62652800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:62650400-62652800	Weak transcription	Brain Anterior Caudate	brain
33	chr12:62650800-62652600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr12:62650800-62652600	Weak transcription	Thymus	Thymus
35	chr12:62650800-62652600	Weak transcription	HMEC	breast
36	chr12:62650800-62653000	Weak transcription	Pancreas	Pancrea
37	chr12:62650800-62653000	Weak transcription	Right Atrium	heart
38	chr12:62651000-62652600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:62651000-62652800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:62651000-62652800	Weak transcription	Osteobl	bone
41	chr12:62651000-62653000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:62651000-62653000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:62651000-62653200	Weak transcription	Ovary	ovary
44	chr12:62651200-62652200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr12:62651200-62652400	Flanking Active TSS	K562	blood
46	chr12:62651200-62652800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:62651200-62652800	Weak transcription	Aorta	Aorta
48	chr12:62651200-62653000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:62651400-62652600	Enhancers	Primary B cells from cord blood	blood
50	chr12:62651400-62652800	Weak transcription	Brain Hippocampus Middle	brain

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