Variant report

Variant	rs12083290
Chromosome Location	chr1:221917601-221917602
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	chr1:221913364-221917603	GM12892	blood:	n/a	n/a
2	CHD1	chr1:221914149-221917620	GM12878	blood:	n/a	chr1:221916212-221916222
3	POLR2A	chr1:221909168-221918546	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:221909243-221918347	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:221913221-221917867	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:221913746-221918072	GM18505	blood:	n/a	n/a
7	POLR2A	chr1:221909298-221917710	GM12878	blood:	n/a	n/a
8	MAX	chr1:221915099-221917612	GM12878	blood:	n/a	chr1:221916895-221916904 chr1:221916101-221916110 chr1:221916100-221916110
9	POLR2A	chr1:221913392-221917733	IMR90	lung:	n/a	n/a
10	POLR2A	chr1:221913585-221918022	GM12892	blood:	n/a	n/a
11	POLR2A	chr1:221913314-221917918	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr1:221913959-221918224	GM19099	blood:	n/a	n/a
13	POLR2A	chr1:221909055-221918437	GM12891	blood:	n/a	n/a
14	BHLHE40	chr1:221916723-221917661	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:221913986-221917923	GM12892	blood:	n/a	n/a
16	POLR2A	chr1:221909363-221918298	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:221916288..221917841-chr1:221930894..221932532,2	MCF-7	breast:
2	chr1:221910710..221913145-chr1:221916027..221918858,3	MCF-7	breast:
3	chr1:221916305..221918049-chr1:221927008..221929788,2	K562	blood:
4	chr1:221886657..221890286-chr1:221915663..221918002,3	MCF-7	breast:
5	chr1:221915847..221918268-chr1:222049176..222051061,2	K562	blood:
6	chr1:221915958..221917862-chr1:221982281..221984311,2	MCF-7	breast:
7	chr1:221915716..221917980-chr1:222052338..222055276,2	MCF-7	breast:
8	chr1:221915763..221917609-chr1:221970690..221972444,2	MCF-7	breast:

Variant related genes	Relation type
DUSP10	TF binding region
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11118843	1.00[AMR][1000 genomes]
rs17010355	1.00[AMR][1000 genomes]
rs6663427	1.00[AMR][1000 genomes]
rs6680495	1.00[AMR][1000 genomes]
rs6683393	1.00[AMR][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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3423401	chr1:221915354-221917902	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221917000-221917800	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:221917000-221917800	Flanking Active TSS	GM12878-XiMat	blood
3	chr1:221917000-221918000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:221917000-221918000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr1:221917000-221919600	Weak transcription	Esophagus	oesophagus
6	chr1:221917200-221917800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr1:221917200-221918000	Enhancers	Thymus	Thymus
8	chr1:221917200-221918200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:221917400-221918000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:221917400-221918000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:221917400-221918000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:221917400-221918000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:221917400-221918000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:221917400-221918000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:221917400-221918000	Enhancers	K562	blood
16	chr1:221917400-221918400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:221917400-221918400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:221917400-221918600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:221917400-221919200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:221917400-221919400	Weak transcription	Fetal Heart	heart
21	chr1:221917400-221921000	Weak transcription	Fetal Lung	lung
22	chr1:221917400-221922400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:221917400-221923000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:221917400-221926000	Weak transcription	Lung	lung
25	chr1:221917400-221931000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:221917600-221917800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:221917600-221918000	Weak transcription	Primary hematopoietic stem cells	blood

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