Variant report

Variant	rs12416851
Chromosome Location	chr11:72874072-72874073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72865432..72868225-chr11:72873076..72874981,2	K562	blood:
2	chr11:72869685..72871497-chr11:72873517..72875859,2	K562	blood:
3	chr11:72865367..72868837-chr11:72873486..72875825,3	MCF-7	breast:
4	chr11:72865579..72869527-chr11:72872570..72875196,3	MCF-7	breast:
5	chr11:72873535..72875164-chr11:72892310..72895031,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12416806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12417247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418733	0.81[ASN][1000 genomes]
rs12420406	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12421033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17131839	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34406022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4578418	0.81[ASN][1000 genomes]
rs57027900	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59340990	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[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	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv386	chr11:72849097-72893807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72869800-72874600	Weak transcription	Aorta	Aorta
2	chr11:72869800-72874600	Weak transcription	Ovary	ovary
3	chr11:72870200-72875000	Weak transcription	Adipose Nuclei	Adipose
4	chr11:72870200-72875200	Weak transcription	Liver	Liver
5	chr11:72870400-72878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:72870800-72880200	Enhancers	HepG2	liver
7	chr11:72871000-72876000	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:72871200-72874800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:72871200-72879800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:72871400-72874600	Weak transcription	HSMMtube	muscle
11	chr11:72871400-72874800	Weak transcription	Right Atrium	heart
12	chr11:72871600-72880000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:72871800-72874800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:72871800-72875000	Weak transcription	Fetal Intestine Small	intestine
15	chr11:72871800-72875800	Weak transcription	Fetal Heart	heart
16	chr11:72871800-72880000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:72873000-72874200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:72873000-72874200	Enhancers	Primary B cells from cord blood	blood
19	chr11:72873000-72875000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr11:72873200-72874200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:72873200-72874600	Enhancers	K562	blood
22	chr11:72873200-72874800	Enhancers	GM12878-XiMat	blood
23	chr11:72873200-72875000	Enhancers	Right Ventricle	heart
24	chr11:72873200-72876400	Enhancers	Placenta	Placenta
25	chr11:72873200-72876600	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:72873400-72874600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:72873400-72876400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:72873400-72876400	Enhancers	Left Ventricle	heart
29	chr11:72873600-72874200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:72873600-72874200	Enhancers	Spleen	Spleen
31	chr11:72873800-72876400	Enhancers	Fetal Intestine Large	intestine
32	chr11:72873800-72878200	Weak transcription	HUVEC	blood vessel
33	chr11:72873800-72880000	Weak transcription	Lung	lung

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