Variant report

Variant	rs930672
Chromosome Location	chr11:10478508-10478509
allele	A/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	POLR2A	chr11:10476180-10478518	IMR90	lung:	n/a	n/a
2	JUN	chr11:10475959-10478519	K562	blood:	n/a	chr11:10476625-10476633 chr11:10476624-10476634 chr11:10477854-10477864 chr11:10476624-10476634 chr11:10478179-10478190 chr11:10477748-10477762
3	GATA1	chr11:10476276-10478557	K562	blood:	n/a	chr11:10477539-10477548 chr11:10477085-10477101 chr11:10478151-10478168
4	CTCF	chr11:10478380-10478530	GM12871	blood:	n/a	n/a
5	POLR2A	chr11:10478295-10478708	K562	blood:	n/a	n/a
6	POLR2A	chr11:10475934-10478530	K562	blood:	n/a	n/a
7	POLR2A	chr11:10477273-10478568	HL-60	blood:	n/a	n/a
8	GATA1	chr11:10477087-10478523	PBDE	blood:	n/a	chr11:10477539-10477548 chr11:10478151-10478168
9	TEAD4	chr11:10477271-10478522	K562	blood:	n/a	n/a
10	MXI1	chr11:10476098-10479047	IMR90	lung:	n/a	chr11:10476482-10476491 chr11:10476971-10476980
11	CEBPD	chr11:10477910-10478538	K562	blood:	n/a	n/a
12	NR2F2	chr11:10477099-10478759	K562	blood:	n/a	n/a
13	TEAD4	chr11:10476234-10478555	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10470733..10474944-chr11:10476648..10480616,5	MCF-7	breast:
2	chr11:10476262..10479144-chr11:10482528..10484355,2	K562	blood:
3	chr11:10477667..10479595-chr11:10827642..10829380,2	K562	blood:
4	chr11:10476884..10479039-chr11:10561132..10563728,3	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000177112	Chromatin interaction
ENSG00000110321	Chromatin interaction
ENSG00000110315	Chromatin interaction
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11042817	0.95[ASN][1000 genomes]
rs11042827	0.91[ASN][1000 genomes]
rs11042828	0.87[ASN][1000 genomes]
rs2071019	1.00[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
2	chr11:10474200-10482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:10475600-10478600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:10476200-10478800	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr11:10476400-10478600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:10476400-10478600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:10476400-10479000	Flanking Active TSS	GM12878-XiMat	blood
8	chr11:10476400-10481400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr11:10476600-10478600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:10476600-10478600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:10476600-10479000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr11:10476600-10479800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr11:10476600-10481400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:10476800-10478600	Flanking Active TSS	NHLF	lung
15	chr11:10476800-10482600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr11:10477000-10479200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:10477000-10479600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr11:10477000-10481000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:10477000-10481400	Flanking Active TSS	Dnd41	blood
20	chr11:10477000-10481600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr11:10477200-10478600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:10477200-10478600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:10477200-10478800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr11:10477200-10478800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr11:10477200-10479000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:10477200-10479000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr11:10477200-10479200	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr11:10477200-10479200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr11:10477200-10479200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr11:10477200-10479400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:10477200-10479600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr11:10477200-10479600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr11:10477200-10479600	Flanking Active TSS	Fetal Thymus	thymus
34	chr11:10477200-10480600	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr11:10477200-10481400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr11:10477200-10481400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:10477400-10478600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr11:10477400-10478800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:10477800-10478600	Enhancers	Lung	lung
40	chr11:10477800-10479200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:10477800-10489000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:10478000-10479000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:10478000-10479200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:10478000-10480600	Weak transcription	Left Ventricle	heart
45	chr11:10478000-10487400	Weak transcription	HMEC	breast
46	chr11:10478200-10478600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:10478200-10478600	Flanking Active TSS	Psoas Muscle	Psoas
48	chr11:10478200-10478800	Flanking Active TSS	Thymus	Thymus
49	chr11:10478200-10478800	Enhancers	HSMM	muscle
50	chr11:10478200-10479600	Enhancers	Brain Inferior Temporal Lobe	brain

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