Variant report

Variant	rs12281684
Chromosome Location	chr11:108604898-108604899
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr11:108603864-108604916	GM12878	blood:	n/a	n/a
2	NFATC1	chr11:108604010-108604933	GM12878	blood:	n/a	n/a
3	NFIC	chr11:108603832-108605140	GM12878	blood:	n/a	n/a
4	EP300	chr11:108604056-108604919	GM12878	blood:	n/a	chr11:108604424-108604438 chr11:108604521-108604530
5	PML	chr11:108603978-108604919	GM12878	blood:	n/a	chr11:108604523-108604532
6	FOXM1	chr11:108603954-108605080	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:108604028-108605058	GM12878	blood:	n/a	n/a
8	TBP	chr11:108604103-108604935	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr11:108604156-108605065	GM12878	blood:	n/a	n/a
10	RFX5	chr11:108604120-108604988	GM12878	blood:	n/a	n/a
11	MXI1	chr11:108604188-108605095	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:108599910..108603583-chr11:108604628..108606555,4	K562	blood:
2	chr11:108574670..108576542-chr11:108603354..108604923,2	K562	blood:
3	chr11:108599709..108601627-chr11:108604162..108606701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254730	TF binding region
ENSG00000254730	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11212756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279185	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6589030	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73554972	0.96[AFR][1000 genomes]
rs7929960	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7934946	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7939884	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948143	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7951395	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9888174	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108578800-108614400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:108581600-108626600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:108581800-108609800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:108581800-108610800	Weak transcription	Thymus	Thymus
5	chr11:108581800-108611400	Weak transcription	Brain Substantia Nigra	brain
6	chr11:108581800-108616200	Weak transcription	Esophagus	oesophagus
7	chr11:108583000-108610600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:108583200-108611600	Weak transcription	Fetal Lung	lung
9	chr11:108584800-108605600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:108587200-108608800	Weak transcription	Fetal Stomach	stomach
11	chr11:108589000-108611800	Weak transcription	Fetal Intestine Large	intestine
12	chr11:108591400-108610600	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:108592000-108620000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:108594000-108612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:108594200-108605600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:108594200-108608400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:108594200-108611400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:108594200-108615400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:108594400-108605000	Weak transcription	Fetal Kidney	kidney
20	chr11:108594400-108613600	Weak transcription	HSMMtube	muscle
21	chr11:108594400-108625400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:108594800-108607600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:108596400-108610800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:108596400-108610800	Weak transcription	Dnd41	blood
25	chr11:108596400-108614400	Weak transcription	Right Ventricle	heart
26	chr11:108596400-108621000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:108596600-108607200	Weak transcription	Liver	Liver
28	chr11:108600600-108609600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:108603200-108605000	Flanking Active TSS	GM12878-XiMat	blood
30	chr11:108603200-108605800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:108603200-108605800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:108603400-108605400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:108603400-108607200	Weak transcription	Aorta	Aorta
34	chr11:108603400-108611200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:108603600-108607200	Weak transcription	Primary B cells from cord blood	blood
36	chr11:108603600-108607200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:108603600-108607400	Weak transcription	Lung	lung
38	chr11:108603600-108610600	Weak transcription	Gastric	stomach
39	chr11:108603600-108617600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:108603800-108605000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:108603800-108605200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:108604000-108605000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr11:108604000-108605000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr11:108604000-108605000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:108604000-108605200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:108604000-108605200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:108604000-108605200	Enhancers	A549	lung
48	chr11:108604000-108605600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:108604000-108605800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:108604000-108605800	Enhancers	Muscle Satellite Cultured Cells	--

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