Variant report

Variant	rs9441981
Chromosome Location	chr1:222011188-222011189
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	RUNX3	chr1:222011138-222011561	GM12878	blood:	n/a	n/a
2	RUNX3	chr1:222011136-222011639	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:222010104-222012144	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-403P	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4308986	0.97[ASN][1000 genomes]
rs4528124	0.93[ASN][1000 genomes]
rs7519761	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222000600-222019000	Weak transcription	Lung	lung
2	chr1:222004200-222012800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:222004600-222011200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:222005800-222019000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:222006200-222012600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:222006400-222011400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:222006800-222012600	Weak transcription	Esophagus	oesophagus
8	chr1:222007600-222011400	Weak transcription	HUVEC	blood vessel
9	chr1:222008200-222013400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:222008400-222012600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:222008600-222012600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:222008600-222012600	Weak transcription	NHEK	skin
13	chr1:222008800-222013800	Weak transcription	Fetal Lung	lung
14	chr1:222008800-222018800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:222009000-222012800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:222009400-222012600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:222009400-222012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:222009600-222012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:222009600-222013200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:222009800-222011200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:222009800-222012600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:222010000-222011400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:222010200-222012600	Weak transcription	HMEC	breast
24	chr1:222010400-222011200	Enhancers	Primary T cells from cord blood	blood
25	chr1:222010400-222011200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:222010400-222015200	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:222010600-222012600	Weak transcription	Hela-S3	cervix
28	chr1:222010600-222015000	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:222010800-222011800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:222010800-222013800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:222011000-222011200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr1:222011000-222011200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr1:222011000-222011200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
34	chr1:222011000-222011600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr1:222011000-222011800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:222011000-222011800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:222011000-222011800	Flanking Active TSS	Dnd41	blood
38	chr1:222011000-222011800	Flanking Active TSS	GM12878-XiMat	blood
39	chr1:222011000-222012000	Enhancers	Primary B cells from cord blood	blood
40	chr1:222011000-222012000	Enhancers	Fetal Thymus	thymus
41	chr1:222011000-222012000	Enhancers	Thymus	Thymus
42	chr1:222011000-222012200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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