Variant report

Variant	rs16859443
Chromosome Location	chr2:172381046-172381047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172379590..172381198-chr2:172382870..172385036,2	MCF-7	breast:
2	chr2:172380578..172383300-chr2:172395054..172396804,2	K562	blood:
3	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10930479	0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12472239	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12475526	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55871360	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs60769739	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72625235	1.00[EUR][1000 genomes]
rs72625236	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172378200-172381200	Active TSS	Right Atrium	heart
2	chr2:172378600-172381200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr2:172378800-172381200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
4	chr2:172378800-172381600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:172379400-172381200	Active TSS	Colonic Mucosa	Colon
6	chr2:172379600-172381200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
7	chr2:172379800-172381200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:172380000-172381200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:172380200-172381200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:172380200-172381200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr2:172380200-172381200	Active TSS	Brain Germinal Matrix	brain
12	chr2:172380200-172381200	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr2:172380200-172381200	Flanking Active TSS	NH-A	brain
14	chr2:172380200-172381200	Flanking Active TSS	NHEK	skin
15	chr2:172380200-172381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:172380200-172381400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr2:172380400-172381200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:172380400-172381200	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr2:172380400-172381200	Flanking Active TSS	GM12878-XiMat	blood
20	chr2:172380400-172381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:172380400-172381400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr2:172380400-172381400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:172380400-172381400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr2:172380600-172381200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:172380600-172381200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:172380600-172381200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:172380600-172381200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr2:172380600-172381200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:172380600-172381200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr2:172380600-172381200	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr2:172380600-172381200	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr2:172380600-172381200	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr2:172380600-172381200	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr2:172380600-172381200	Flanking Active TSS	Fetal Stomach	stomach
35	chr2:172380600-172387400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:172380800-172381200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:172380800-172381200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:172380800-172381200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr2:172380800-172381200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr2:172380800-172381200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:172380800-172381200	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr2:172380800-172381200	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr2:172380800-172381200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr2:172380800-172381200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:172380800-172381200	Bivalent/Poised TSS	Fetal Brain Male	brain
46	chr2:172380800-172381200	Flanking Active TSS	HSMM	muscle
47	chr2:172380800-172381200	Flanking Active TSS	Osteobl	bone
48	chr2:172380800-172381400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:172380800-172381400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:172380800-172381400	Enhancers	Fetal Heart	heart

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