Variant report

Variant	rs556311861
Chromosome Location	chr3:119420458-119420459
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	CTCF	chr3:119420451-119420488	GM20000	blood:	n/a	n/a
2	IRF1	chr3:119420186-119420682	K562	blood:	n/a	chr3:119420375-119420396
3	IRF1	chr3:119420366-119420469	K562	blood:	n/a	chr3:119420375-119420396
4	IRF1	chr3:119420196-119420617	K562	blood:	n/a	chr3:119420375-119420396

Variant related genes	Relation type
MAATS1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv460834	chr3:119384163-119458851	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv591390	chr3:119384163-119458851	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv591391	chr3:119403145-119442572	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3510640	chr3:119419795-119420503	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119406000-119421400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:119418400-119421200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:119418400-119422200	ZNF genes & repeats	GM12878-XiMat	blood
4	chr3:119418800-119421400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:119419000-119420800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:119419000-119421200	Enhancers	Adipose Nuclei	Adipose
7	chr3:119419000-119421200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr3:119419000-119421400	Enhancers	Primary B cells from peripheral blood	blood
9	chr3:119419000-119421400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:119419000-119421400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr3:119419000-119421400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:119419000-119421400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr3:119419200-119420600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr3:119419200-119420600	Enhancers	HUVEC	blood vessel
15	chr3:119419200-119420800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:119419200-119420800	Enhancers	Left Ventricle	heart
17	chr3:119419200-119420800	Enhancers	Small Intestine	intestine
18	chr3:119419200-119421200	Enhancers	Duodenum Mucosa	Duodenum
19	chr3:119419200-119421400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr3:119419200-119421400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:119419400-119421200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:119419400-119421400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:119419400-119421400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr3:119419400-119421400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr3:119419400-119421400	Weak transcription	Stomach Mucosa	stomach
26	chr3:119419600-119421200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:119419600-119421200	Weak transcription	Right Ventricle	heart
28	chr3:119419600-119421200	Weak transcription	A549	lung
29	chr3:119419600-119421400	Enhancers	Liver	Liver
30	chr3:119419800-119421400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:119420200-119420600	Enhancers	Ovary	ovary
32	chr3:119420200-119420600	Enhancers	Spleen	Spleen
33	chr3:119420200-119420600	Flanking Active TSS	Dnd41	blood
34	chr3:119420200-119421200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:119420200-119421200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:119420400-119420600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:119420400-119420600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr3:119420400-119420600	Enhancers	Placenta	Placenta
39	chr3:119420400-119420800	Enhancers	Esophagus	oesophagus
40	chr3:119420400-119421200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:119420400-119421200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr3:119420400-119421200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:119420400-119421200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr3:119420400-119421200	Enhancers	Osteobl	bone

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