Variant report

Variant	rs12992824
Chromosome Location	chr2:172371783-172371784
allele	C/T
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	chr2:172364696..172368606-chr2:172368904..172372497,6	K562	blood:
3	chr2:172340109..172342065-chr2:172370654..172373620,2	K562	blood:
4	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10930477	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11680268	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56954167	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6720267	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6725897	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172367000-172372000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:172367000-172372000	Weak transcription	NHDF-Ad	bronchial
3	chr2:172367000-172378000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:172368000-172372400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr2:172368600-172372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:172370600-172372000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:172370600-172372200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:172370600-172372200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:172370600-172372400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:172370800-172372000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:172370800-172372000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:172370800-172372000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:172370800-172372200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:172370800-172372800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:172370800-172373400	Weak transcription	Fetal Thymus	thymus
16	chr2:172370800-172378400	Weak transcription	Right Ventricle	heart
17	chr2:172371000-172371800	Enhancers	GM12878-XiMat	blood
18	chr2:172371000-172372000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:172371000-172372000	Weak transcription	HSMMtube	muscle
20	chr2:172371000-172372000	Enhancers	K562	blood
21	chr2:172371200-172376200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:172371600-172375800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:172371600-172376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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