Variant report

Variant	rs34521619
Chromosome Location	chr2:113290314-113290315
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113289821..113291366-chr2:113297679..113299657,2	K562	blood:
2	chr2:113237305..113239187-chr2:113290058..113292165,2	K562	blood:
3	chr2:113289821..113292124-chr2:113297499..113299657,2	K562	blood:
4	chr2:113289491..113291465-chr2:113300196..113302655,2	K562	blood:
5	chr2:113284316..113286214-chr2:113288766..113291061,2	K562	blood:

Variant related genes	Relation type
ENSG00000125630	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1561265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3980068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59635443	1.00[EUR][1000 genomes]
rs72946336	1.00[EUR][1000 genomes]
rs72946337	1.00[EUR][1000 genomes]
rs7604599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113241600-113292400	Weak transcription	Small Intestine	intestine
2	chr2:113260800-113298800	Weak transcription	Fetal Heart	heart
3	chr2:113270600-113298800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:113279000-113299200	Weak transcription	Psoas Muscle	Psoas
5	chr2:113281200-113299000	Weak transcription	Colonic Mucosa	Colon
6	chr2:113284800-113291200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:113285600-113291400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:113285800-113290400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:113285800-113290600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:113285800-113290800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:113285800-113291200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:113285800-113291200	Strong transcription	Fetal Muscle Leg	muscle
13	chr2:113285800-113291200	Strong transcription	Thymus	Thymus
14	chr2:113285800-113291200	Strong transcription	Osteobl	bone
15	chr2:113285800-113291400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:113285800-113291400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:113285800-113291400	Strong transcription	Dnd41	blood
18	chr2:113285800-113291600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:113285800-113291600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:113286000-113291000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:113286000-113291200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:113286000-113291400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:113286000-113291400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:113286000-113291400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:113286000-113291400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr2:113286000-113291400	Strong transcription	Fetal Thymus	thymus
27	chr2:113286000-113291400	Strong transcription	Left Ventricle	heart
28	chr2:113286000-113291600	Strong transcription	Fetal Stomach	stomach
29	chr2:113286000-113291600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr2:113286000-113292200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:113286000-113292200	Strong transcription	Fetal Brain Female	brain
32	chr2:113286200-113290600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:113286200-113290600	Strong transcription	HepG2	liver
34	chr2:113286200-113290800	Strong transcription	HMEC	breast
35	chr2:113286200-113290800	Strong transcription	NHLF	lung
36	chr2:113286200-113291000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:113286200-113291200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:113286200-113291200	Strong transcription	Adipose Nuclei	Adipose
39	chr2:113286200-113291200	Strong transcription	NHEK	skin
40	chr2:113286200-113291400	Strong transcription	HSMMtube	muscle
41	chr2:113286200-113291600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr2:113286200-113291600	Strong transcription	HSMM	muscle
43	chr2:113286200-113292200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:113286400-113290800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:113286400-113291000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:113286400-113291000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:113287000-113290400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:113287000-113291200	Strong transcription	Lung	lung
49	chr2:113287000-113291400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:113287000-113291400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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