Variant report

Variant	rs3740753
Chromosome Location	chr11:100998771-100998772
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:100997196..100999352-chr11:101219935..101222787,2	MCF-7	breast:
2	chr11:100953156..100955270-chr11:100996509..100998823,2	MCF-7	breast:
3	chr11:100997510..100999276-chr11:101077544..101080289,2	MCF-7	breast:
4	chr11:100817953..100820202-chr11:100996592..100999547,2	MCF-7	breast:
5	chr11:100989846..100992410-chr11:100997407..100999577,3	K562	blood:
6	chr11:100997015..100999242-chr11:101300083..101302474,2	MCF-7	breast:
7	chr11:100862479..100864275-chr11:100997401..100999595,2	MCF-7	breast:
8	chr11:100933625..100935266-chr11:100997720..101000555,2	MCF-7	breast:
9	chr11:100947424..100949446-chr11:100997091..100999077,2	MCF-7	breast:
10	chr11:100997950..100999651-chr11:101197164..101199921,2	MCF-7	breast:
11	chr11:100906950..100909158-chr11:100997718..100999682,2	MCF-7	breast:
12	chr11:100996775..100999414-chr11:101040278..101042941,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170647	Chromatin interaction
ENSG00000082175	Chromatin interaction
ENSG00000255504	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1042838	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1042839	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10895042	0.86[AFR][1000 genomes]
rs10895054	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10895055	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11224563	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11224567	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11224572	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11224577	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11224582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1145465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11518483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11571201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11571259	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11600372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12364291	0.86[AFR][1000 genomes]
rs1545611	0.86[AFR][1000 genomes]
rs3740752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474320	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs487153	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs502471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs507141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508264	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs509015	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs512846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs517861	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs523390	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs525395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs528177	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528719	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543955	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs546697	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs562894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs570245	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571925	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573932	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581805	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583701	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs586143	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs600354	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890631	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61890632	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61891046	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs640562	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs659048	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659331	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9282823	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898328	chr11:100993846-101009933	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100996400-100999400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr11:100996600-100999400	Active TSS	Right Atrium	heart
3	chr11:100996600-101000600	Active TSS	Aorta	Aorta
4	chr11:100996600-101000600	Active TSS	K562	blood
5	chr11:100996600-101000800	Active TSS	Ovary	ovary
6	chr11:100996600-101001200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:100996800-100998800	Active TSS	Rectal Smooth Muscle	rectum
8	chr11:100996800-101000800	Active TSS	Colon Smooth Muscle	Colon
9	chr11:100997000-100999800	Bivalent/Poised TSS	Fetal Lung	lung
10	chr11:100997200-100999200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:100997200-100999200	Active TSS	Right Ventricle	heart
12	chr11:100997200-100999400	Active TSS	NHDF-Ad	bronchial
13	chr11:100997200-101000600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr11:100997200-101000600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:100997400-100998800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:100997400-100998800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
17	chr11:100997400-100998800	Active TSS	Duodenum Mucosa	Duodenum
18	chr11:100997400-100998800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
19	chr11:100997400-100998800	Bivalent/Poised TSS	A549	lung
20	chr11:100997400-100999000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
21	chr11:100997400-100999200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:100997400-100999200	Active TSS	NHLF	lung
23	chr11:100997400-100999400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr11:100997400-100999400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr11:100997400-101000600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr11:100997400-101000600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr11:100997400-101000600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:100997600-100999000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:100997600-100999000	Active TSS	Spleen	Spleen
30	chr11:100997600-100999000	Bivalent/Poised TSS	HSMM	muscle
31	chr11:100997600-100999000	Bivalent/Poised TSS	Osteobl	bone
32	chr11:100997600-100999200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:100997600-100999200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:100997600-100999400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:100997600-100999400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:100997600-100999400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:100997600-100999400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:100997600-100999400	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr11:100997600-100999400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr11:100997600-100999600	Bivalent/Poised TSS	Esophagus	oesophagus
41	chr11:100997600-100999800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:100997600-100999800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
43	chr11:100997600-100999800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:100997600-101000600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr11:100997600-101000600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr11:100997600-101000600	Active TSS	Left Ventricle	heart
47	chr11:100997600-101000600	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr11:100997600-101000600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
49	chr11:100997600-101000800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:100997800-100998800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--

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