Variant report

Variant	rs56789785
Chromosome Location	chr2:173042285-173042286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173041440..173044413-chr2:173328538..173330490,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11893581	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898023	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991642	1.00[ASN][1000 genomes]
rs13005487	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014155	1.00[ASN][1000 genomes]
rs13024942	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031965	1.00[ASN][1000 genomes]
rs17219125	1.00[ASN][1000 genomes]
rs33910987	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34238606	1.00[ASN][1000 genomes]
rs34267026	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34517309	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34928801	0.85[EUR][1000 genomes]
rs35031958	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35123448	1.00[ASN][1000 genomes]
rs35334306	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35434134	1.00[ASN][1000 genomes]
rs35768968	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940741	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36027698	1.00[ASN][1000 genomes]
rs36078085	0.81[EUR][1000 genomes]
rs67130328	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723339	1.00[ASN][1000 genomes]
rs6751665	0.80[AMR][1000 genomes];1.00[ASN][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	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2762294	chr2:173028656-173071270	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173037800-173043000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:173038000-173042600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:173038000-173043000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:173038200-173042400	Weak transcription	NH-A	brain
5	chr2:173038200-173042600	Weak transcription	HMEC	breast
6	chr2:173038200-173043400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:173038200-173045200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:173038400-173042400	Weak transcription	NHEK	skin
9	chr2:173038400-173042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:173038400-173043600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:173038400-173043800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:173038400-173044000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:173038400-173044000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:173038600-173043600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:173038600-173044000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:173039000-173044000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:173040600-173042600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:173042200-173042400	Enhancers	Esophagus	oesophagus
19	chr2:173042200-173044800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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