Variant report

Variant	rs16859480
Chromosome Location	chr2:172407421-172407422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172397179..172399328-chr2:172406608..172408459,2	K562	blood:
2	chr2:172289710..172291667-chr2:172405473..172408382,2	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11889130	1.00[EUR][1000 genomes]
rs11896718	1.00[EUR][1000 genomes]
rs16859473	1.00[EUR][1000 genomes]
rs16859496	1.00[EUR][1000 genomes]
rs34029335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35421358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4668408	1.00[EUR][1000 genomes]
rs4668409	1.00[EUR][1000 genomes]
rs56188807	1.00[EUR][1000 genomes]
rs57826998	1.00[EUR][1000 genomes]
rs60892098	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
2	chr2:172381200-172410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:172386400-172419800	Weak transcription	Lung	lung
4	chr2:172387200-172413800	Weak transcription	Spleen	Spleen
5	chr2:172388000-172411400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:172388200-172411000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:172388400-172411800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:172388600-172412400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:172388800-172410400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:172388800-172411000	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:172388800-172413800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:172388800-172413800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:172388800-172414800	Weak transcription	Brain Angular Gyrus	brain
14	chr2:172388800-172414800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:172389000-172411000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:172392400-172412200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:172394000-172411200	Weak transcription	NHLF	lung
18	chr2:172396600-172408200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:172396600-172414400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:172397000-172410200	Weak transcription	Placenta	Placenta
21	chr2:172398200-172408400	Weak transcription	Fetal Intestine Small	intestine
22	chr2:172398200-172414000	Weak transcription	Brain Anterior Caudate	brain
23	chr2:172398400-172411200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:172399400-172409400	Weak transcription	NHEK	skin
25	chr2:172399400-172410400	Weak transcription	Right Ventricle	heart
26	chr2:172399400-172411000	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:172399600-172409600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:172400000-172409800	Weak transcription	K562	blood
29	chr2:172400000-172410200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:172400000-172410200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:172400000-172410200	Weak transcription	Ovary	ovary
32	chr2:172400000-172410400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:172400000-172410400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:172400000-172410400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:172400000-172410400	Weak transcription	Left Ventricle	heart
36	chr2:172400000-172410400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:172400000-172410800	Weak transcription	Fetal Lung	lung
38	chr2:172400000-172411000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:172400000-172416400	Weak transcription	Gastric	stomach
40	chr2:172400200-172413800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:172401400-172410400	Weak transcription	Fetal Stomach	stomach
42	chr2:172401400-172411200	Weak transcription	HUVEC	blood vessel
43	chr2:172403400-172411000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:172403800-172411000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:172403800-172411000	Weak transcription	Aorta	Aorta
46	chr2:172404200-172410400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:172404400-172407600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:172404400-172409200	Weak transcription	GM12878-XiMat	blood
49	chr2:172404600-172409400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:172404800-172410400	Weak transcription	Fetal Muscle Leg	muscle

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