Variant report

Variant	rs1867821
Chromosome Location	chr2:47072430-47072431
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	EP300	chr2:47071015-47078457	SK-N-SH	brain:	n/a	chr2:47077523-47077533 chr2:47076132-47076146 chr2:47077719-47077726

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47072385..47074201-chr2:47081615..47083494,2	K562	blood:

Variant related genes	Relation type
LINC01119	TF binding region
ENSG00000239332	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1579862	0.84[CEU][hapmap]
rs1579863	0.80[EUR][1000 genomes]
rs17774133	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55642514	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6719049	0.88[CEU][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7593289	0.85[CHB][hapmap]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47063800-47072800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:47063800-47073000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:47064000-47072800	Weak transcription	Right Atrium	heart
4	chr2:47064000-47072800	Weak transcription	Spleen	Spleen
5	chr2:47064000-47073200	Weak transcription	NHLF	lung
6	chr2:47067400-47073400	Weak transcription	Osteobl	bone
7	chr2:47069200-47072800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:47069400-47072800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:47069400-47073000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:47069400-47073400	Weak transcription	Stomach Mucosa	stomach
11	chr2:47069400-47073600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:47069400-47082400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:47070200-47073200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:47070200-47073800	Enhancers	Stomach Smooth Muscle	stomach
15	chr2:47070400-47073800	Enhancers	Colon Smooth Muscle	Colon
16	chr2:47070800-47072800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:47070800-47072800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:47070800-47072800	Weak transcription	NHDF-Ad	bronchial
19	chr2:47070800-47073000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:47070800-47073600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:47071200-47072600	Weak transcription	A549	lung
22	chr2:47072000-47074400	Enhancers	Fetal Lung	lung
23	chr2:47072000-47078400	Enhancers	Lung	lung
24	chr2:47072000-47078400	Enhancers	Right Ventricle	heart
25	chr2:47072000-47078600	Enhancers	Fetal Stomach	stomach
26	chr2:47072000-47078600	Enhancers	Ovary	ovary
27	chr2:47072200-47073800	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:47072200-47077000	Enhancers	Placenta	Placenta
29	chr2:47072200-47078400	Enhancers	Left Ventricle	heart
30	chr2:47072200-47078600	Enhancers	Pancreas	Pancrea
31	chr2:47072200-47078800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:47072400-47073200	Enhancers	Aorta	Aorta
33	chr2:47072400-47073200	Enhancers	Esophagus	oesophagus
34	chr2:47072400-47074200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:47072400-47074400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:47072400-47078600	Enhancers	Fetal Intestine Small	intestine

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