Variant report

Variant	rs13409783
Chromosome Location	chr2:54789876-54789877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54789686..54792599-chr2:54886831..54888349,2	K562	blood:
2	chr2:54767756..54770528-chr2:54788177..54790066,2	MCF-7	breast:
3	chr2:54789266..54791330-chr2:54815899..54818560,2	K562	blood:
4	chr2:54789199..54791941-chr2:54810651..54814148,3	K562	blood:

Variant related genes	Relation type
ENSG00000228108	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10166179	1.00[EUR][1000 genomes]
rs10188600	1.00[EUR][1000 genomes]
rs1030601	1.00[EUR][1000 genomes]
rs11885098	1.00[EUR][1000 genomes]
rs11895933	1.00[EUR][1000 genomes]
rs13386997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13394958	1.00[EUR][1000 genomes]
rs13419870	1.00[EUR][1000 genomes]
rs3936082	1.00[EUR][1000 genomes]
rs56726104	1.00[EUR][1000 genomes]
rs61332964	1.00[EUR][1000 genomes]
rs61743072	1.00[EUR][1000 genomes]
rs6545436	1.00[EUR][1000 genomes]
rs6545439	1.00[EUR][1000 genomes]
rs6753590	1.00[EUR][1000 genomes]
rs6753689	1.00[EUR][1000 genomes]
rs6756814	1.00[EUR][1000 genomes]
rs6757017	1.00[EUR][1000 genomes]
rs72918768	1.00[EUR][1000 genomes]
rs73932784	1.00[EUR][1000 genomes]
rs73934323	1.00[EUR][1000 genomes]
rs7559157	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv2731	chr2:54745069-54790057	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54786400-54790200	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr2:54786400-54793200	Enhancers	Fetal Heart	heart
3	chr2:54787600-54791400	Enhancers	Left Ventricle	heart
4	chr2:54787600-54791400	Weak transcription	Right Ventricle	heart
5	chr2:54787600-54791400	Weak transcription	Spleen	Spleen
6	chr2:54787600-54796800	Weak transcription	Aorta	Aorta
7	chr2:54787600-54797000	Weak transcription	Gastric	stomach
8	chr2:54787800-54790600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:54787800-54796200	Weak transcription	Esophagus	oesophagus
10	chr2:54787800-54797200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:54788000-54791000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:54788000-54791200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:54788000-54796000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:54788200-54790600	Enhancers	Fetal Lung	lung
15	chr2:54788200-54795000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:54788400-54790600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:54788400-54790600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:54788400-54791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:54788400-54797600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:54788600-54790000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:54788600-54790200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:54788600-54790600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:54788600-54791000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:54788600-54791200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:54788600-54791600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:54788600-54791600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:54788600-54791800	Enhancers	Stomach Mucosa	stomach
28	chr2:54788600-54792000	Enhancers	Fetal Thymus	thymus
29	chr2:54788600-54795200	Weak transcription	Placenta	Placenta
30	chr2:54788600-54796000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:54788600-54796200	Weak transcription	Colonic Mucosa	Colon
32	chr2:54788600-54796200	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:54788600-54796400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:54788600-54796800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:54788600-54796800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:54788800-54790600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:54788800-54790600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:54788800-54790600	Enhancers	Dnd41	blood
39	chr2:54788800-54791200	Weak transcription	Fetal Kidney	kidney
40	chr2:54788800-54796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:54789000-54790000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr2:54789000-54790400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:54789000-54790400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:54789000-54790600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:54789000-54790600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr2:54789000-54790600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr2:54789000-54790600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr2:54789000-54790800	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr2:54789200-54790000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:54789200-54790000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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