Variant report

Variant	rs2733273
Chromosome Location	chr12:41833995-41833996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10506193	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880089	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880091	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880093	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880095	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10880096	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180853	1.00[CHB][hapmap]
rs11180882	1.00[CHB][hapmap]
rs11180979	1.00[CHB][hapmap]
rs11180980	1.00[JPT][hapmap]
rs11180981	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180984	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12227680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229610	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12230775	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12427081	1.00[CHB][hapmap]
rs1350431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[ASN][1000 genomes]
rs1458169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551594	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1589983	1.00[CHB][hapmap]
rs1902908	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2054211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733294	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2733295	0.81[YRI][hapmap]
rs285586	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs285587	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3110389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66562278	0.91[ASN][1000 genomes]
rs67859259	0.91[ASN][1000 genomes]
rs7974539	1.00[JPT][hapmap]

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	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1037987	chr12:41815867-41840251	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41830400-41834200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:41830400-41834400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:41831200-41834200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:41831400-41838400	Active TSS	Brain Germinal Matrix	brain
6	chr12:41831600-41834000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:41831800-41834600	Active TSS	Fetal Brain Female	brain
8	chr12:41832000-41834000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:41832000-41834000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:41832200-41836800	Weak transcription	Brain Substantia Nigra	brain
11	chr12:41832600-41834000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:41832800-41834000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:41832800-41834200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:41832800-41834200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:41833000-41835200	Enhancers	Brain Cingulate Gyrus	brain
16	chr12:41833200-41836400	Weak transcription	Fetal Brain Male	brain
17	chr12:41833400-41834000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:41833600-41834800	Weak transcription	Fetal Kidney	kidney
19	chr12:41833800-41834000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:41833800-41834400	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:41833800-41835000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:41833800-41836800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:41833800-41837600	Weak transcription	Brain Hippocampus Middle	brain

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