Variant report

Variant	rs2082830
Chromosome Location	chr2:11649547-11649548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10169987	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10174895	1.00[ASN][1000 genomes]
rs10192123	1.00[ASN][1000 genomes]
rs10201673	1.00[ASN][1000 genomes]
rs10205078	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10929750	1.00[ASN][1000 genomes]
rs11674659	1.00[AMR][1000 genomes]
rs11886420	1.00[AMR][1000 genomes]
rs11897533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12165170	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13383410	0.86[ASN][1000 genomes]
rs13388093	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13395155	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13407457	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13418262	0.86[ASN][1000 genomes]
rs13424905	0.86[ASN][1000 genomes]
rs13430148	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1595018	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16857565	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2002730	1.00[ASN][1000 genomes]
rs2043542	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2082829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4233893	1.00[AMR][1000 genomes]
rs4668729	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4669737	1.00[ASN][1000 genomes]
rs4669739	1.00[ASN][1000 genomes]
rs4669740	1.00[ASN][1000 genomes]
rs4669741	0.87[ASN][1000 genomes]
rs61362255	0.86[ASN][1000 genomes]
rs6432202	1.00[CHB][hapmap]
rs6432209	1.00[ASN][1000 genomes]
rs6719003	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs6719009	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs6739168	1.00[ASN][1000 genomes]
rs6741736	1.00[ASN][1000 genomes]
rs6756327	1.00[ASN][1000 genomes]
rs73187472	0.86[ASN][1000 genomes]
rs7597108	0.86[ASN][1000 genomes]
rs875231	1.00[ASN][1000 genomes]
rs877164	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv3322352	chr2:11648301-11650399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11639600-11655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:11641400-11651600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:11641400-11653200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:11641600-11653800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:11643400-11651200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:11644000-11651800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:11645200-11651800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:11646400-11651600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:11646400-11653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:11647000-11664400	Weak transcription	Right Ventricle	heart
11	chr2:11647000-11665800	Weak transcription	Right Atrium	heart
12	chr2:11647400-11651000	Genic enhancers	HepG2	liver
13	chr2:11648000-11651400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:11648200-11650600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:11648400-11653600	Weak transcription	Brain Germinal Matrix	brain
16	chr2:11648600-11649800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:11648600-11653000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:11648800-11649800	Weak transcription	Ovary	ovary
19	chr2:11648800-11655200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:11648800-11655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:11648800-11655600	Weak transcription	Fetal Stomach	stomach
22	chr2:11649000-11654000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:11649000-11655400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:11649200-11651400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:11649400-11649600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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