Variant report

Variant	rs57826998
Chromosome Location	chr2:172373425-172373426
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172370595..172374063-chr2:172374486..172376934,3	MCF-7	breast:
2	chr2:172340109..172342065-chr2:172370654..172373620,2	K562	blood:
3	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11889130	1.00[EUR][1000 genomes]
rs11896718	1.00[EUR][1000 genomes]
rs16859473	1.00[EUR][1000 genomes]
rs16859480	1.00[EUR][1000 genomes]
rs16859496	1.00[EUR][1000 genomes]
rs34029335	1.00[EUR][1000 genomes]
rs35421358	1.00[EUR][1000 genomes]
rs4668408	1.00[EUR][1000 genomes]
rs56188807	1.00[EUR][1000 genomes]
rs60892098	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	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
2	nsv979148	chr2:172373054-172375371	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172367000-172378000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172370800-172378400	Weak transcription	Right Ventricle	heart
3	chr2:172371200-172376200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:172371600-172375800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:172371600-172376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:172372000-172373600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:172372000-172373600	Enhancers	NHDF-Ad	bronchial
8	chr2:172372200-172373600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:172372200-172373600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:172372200-172373600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:172372200-172373600	Enhancers	NH-A	brain
12	chr2:172372400-172376200	Weak transcription	GM12878-XiMat	blood
13	chr2:172372400-172376400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:172372600-172373600	Enhancers	K562	blood
15	chr2:172372600-172374000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:172372800-172373600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:172372800-172373600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:172373000-172373600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:172373000-172373600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:172373000-172378000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:172373200-172378200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:172373200-172378200	Weak transcription	Osteobl	bone
23	chr2:172373400-172373600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:172373400-172373600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:172373400-172373600	Enhancers	Fetal Muscle Leg	muscle
26	chr2:172373400-172373600	Bivalent/Poised TSS	Placenta	Placenta
27	chr2:172373400-172373600	Enhancers	HSMMtube	muscle
28	chr2:172373400-172373800	ZNF genes & repeats	Fetal Thymus	thymus
29	chr2:172373400-172377600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:172373400-172378000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:172373400-172378000	Weak transcription	HSMM	muscle

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