Variant report

Variant	rs288049
Chromosome Location	chr2:210379383-210379384
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210352493..210354448-chr2:210377113..210379529,2	K562	blood:
2	chr2:210372196..210374156-chr2:210376464..210379426,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10173260	0.91[EUR][1000 genomes]
rs10208979	0.87[EUR][1000 genomes]
rs11687844	0.89[EUR][1000 genomes]
rs11884711	0.95[ASN][1000 genomes]
rs11885022	0.94[ASN][1000 genomes]
rs11885999	0.87[ASN][1000 genomes]
rs11895827	0.94[ASN][1000 genomes]
rs11896762	0.91[ASN][1000 genomes]
rs12053460	0.85[EUR][1000 genomes]
rs12614655	0.94[ASN][1000 genomes]
rs12621170	0.94[ASN][1000 genomes]
rs13013173	0.94[ASN][1000 genomes]
rs13025402	0.94[ASN][1000 genomes]
rs1563122	0.94[ASN][1000 genomes]
rs1563123	0.94[ASN][1000 genomes]
rs1563124	0.94[ASN][1000 genomes]
rs1563125	0.94[ASN][1000 genomes]
rs16843019	0.94[ASN][1000 genomes]
rs16843022	0.94[ASN][1000 genomes]
rs16843034	0.92[ASN][1000 genomes]
rs2123700	0.87[EUR][1000 genomes]
rs2219086	0.91[ASN][1000 genomes]
rs2365658	0.86[EUR][1000 genomes]
rs288048	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs288052	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs288054	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs288055	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2886435	0.84[EUR][1000 genomes]
rs34951382	0.92[ASN][1000 genomes]
rs35832475	0.81[ASN][1000 genomes]
rs4672554	0.85[EUR][1000 genomes]
rs4673481	0.86[EUR][1000 genomes]
rs4673482	0.86[EUR][1000 genomes]
rs55703768	0.87[ASN][1000 genomes]
rs60120123	0.89[ASN][1000 genomes]
rs6435531	0.87[EUR][1000 genomes]
rs7559831	0.94[EUR][1000 genomes]
rs7561678	0.91[EUR][1000 genomes]
rs7562585	0.94[EUR][1000 genomes]
rs7565225	0.94[ASN][1000 genomes]
rs7586196	0.91[EUR][1000 genomes]
rs7593377	0.86[EUR][1000 genomes]
rs7601095	0.86[EUR][1000 genomes]
rs7604320	0.94[ASN][1000 genomes]
rs9288409	0.90[EUR][1000 genomes]
rs9917164	0.94[ASN][1000 genomes]
rs997109	0.88[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	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210364600-210387600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:210364600-210392200	Weak transcription	Pancreas	Pancrea
3	chr2:210366600-210387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:210371400-210391000	Weak transcription	Aorta	Aorta
5	chr2:210372800-210381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:210373000-210380000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:210378000-210380200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:210378000-210384000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:210378800-210379400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:210378800-210383200	Weak transcription	Brain Germinal Matrix	brain
11	chr2:210378800-210384000	Weak transcription	Fetal Brain Female	brain
12	chr2:210378800-210385800	Weak transcription	Fetal Brain Male	brain
13	chr2:210378800-210390200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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