Variant report

Variant	rs12278740
Chromosome Location	chr11:120423601-120423602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11217913	0.88[EUR][1000 genomes]
rs12278730	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252494	0.88[EUR][1000 genomes]
rs2252634	0.87[EUR][1000 genomes]
rs2252648	0.87[EUR][1000 genomes]
rs2266100	0.80[EUR][1000 genomes]
rs2266101	0.81[EUR][1000 genomes]
rs2508655	0.82[EUR][1000 genomes]
rs4936519	0.80[EUR][1000 genomes]
rs61900898	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1036388	chr11:120395104-120427135	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1052932	chr11:120406628-120442955	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120416800-120426200	Enhancers	Placenta	Placenta
2	chr11:120417400-120425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:120417600-120425600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:120418000-120424200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:120419200-120423800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:120419200-120426000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:120419800-120424000	Weak transcription	Left Ventricle	heart
8	chr11:120419800-120424200	Weak transcription	Spleen	Spleen
9	chr11:120419800-120429600	Weak transcription	Right Ventricle	heart
10	chr11:120419800-120433600	Weak transcription	Right Atrium	heart
11	chr11:120420400-120425600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:120420400-120425600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:120420400-120425800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:120420600-120425800	Weak transcription	Brain Angular Gyrus	brain
15	chr11:120421000-120424200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:120421000-120425800	Weak transcription	NHLF	lung
17	chr11:120421400-120424000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:120421400-120424600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:120421600-120423800	Weak transcription	Ovary	ovary
20	chr11:120421600-120424600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:120421600-120424800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:120421600-120425800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:120421800-120425600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:120421800-120425600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:120422000-120423800	Weak transcription	Fetal Lung	lung
26	chr11:120422000-120425600	Weak transcription	Fetal Kidney	kidney
27	chr11:120422200-120424000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:120422200-120424000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:120422200-120424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:120422400-120424600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:120422800-120424200	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:120423000-120425600	Weak transcription	GM12878-XiMat	blood
33	chr11:120423200-120424600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:120423400-120424000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:120423400-120424800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:120423400-120425600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:120423600-120424800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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