Variant report

Variant	rs12030080
Chromosome Location	chr1:78198322-78198323
allele	A/G
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	chr1:78197672-78198673	K562	blood:	n/a	n/a
2	SPI1	chr1:78198257-78198434	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78196943..78199792-chr1:78203079..78206072,2	K562	blood:
2	chr1:78196594..78199188-chr1:78468041..78469700,2	K562	blood:

Variant related genes	Relation type
USP33	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10518561	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes]
rs12027183	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs12027558	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap]
rs12027952	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs12035132	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs12038908	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17098297	0.82[JPT][hapmap]
rs17100944	1.00[CEU][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs60794893	0.96[AMR][1000 genomes]
rs60832898	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8179507	0.88[EUR][1000 genomes];0.88[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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv508326	chr1:78184379-78234247	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78171400-78206600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:78171600-78199000	Strong transcription	Adipose Nuclei	Adipose
3	chr1:78171600-78207400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:78171800-78200200	Strong transcription	Fetal Lung	lung
5	chr1:78171800-78205600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:78171800-78206800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr1:78171800-78206800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:78171800-78206800	Strong transcription	Placenta	Placenta
9	chr1:78171800-78207000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:78171800-78207200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:78172000-78198800	Strong transcription	Primary T cells from cord blood	blood
12	chr1:78172000-78206000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:78172200-78206600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:78172400-78200000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:78172400-78207600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:78172600-78205000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:78173200-78198400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:78173800-78224400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:78174200-78207600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:78176400-78205200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:78176800-78205800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:78180600-78199800	Strong transcription	Fetal Intestine Large	intestine
23	chr1:78182400-78210200	Weak transcription	Psoas Muscle	Psoas
24	chr1:78182800-78210200	Weak transcription	Right Ventricle	heart
25	chr1:78185200-78200200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:78185400-78203000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr1:78185600-78200400	Strong transcription	Dnd41	blood
28	chr1:78185600-78201800	Strong transcription	Primary B cells from cord blood	blood
29	chr1:78188000-78207800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:78189000-78204800	Weak transcription	Fetal Brain Male	brain
31	chr1:78189400-78210200	Weak transcription	NHEK	skin
32	chr1:78190600-78210800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:78190800-78203600	Weak transcription	Brain Germinal Matrix	brain
34	chr1:78191400-78206000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:78191600-78205600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:78191600-78210400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:78191600-78215600	Weak transcription	A549	lung
38	chr1:78192000-78215000	Weak transcription	HSMMtube	muscle
39	chr1:78192200-78222400	Weak transcription	Brain Substantia Nigra	brain
40	chr1:78192600-78204000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:78192800-78199800	Strong transcription	NHDF-Ad	bronchial
42	chr1:78193000-78221200	Weak transcription	Brain Angular Gyrus	brain
43	chr1:78193200-78206600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:78193600-78222600	Weak transcription	Fetal Kidney	kidney
45	chr1:78194400-78200200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:78194400-78205200	Weak transcription	Hela-S3	cervix
47	chr1:78194400-78209200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:78194400-78214400	Weak transcription	NHLF	lung
49	chr1:78194400-78223400	Weak transcription	NH-A	brain
50	chr1:78194600-78199200	Weak transcription	HSMM	muscle

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