Variant report

Variant	rs2449665
Chromosome Location	chr11:72494958-72494959
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72431813..72439722-chr11:72491472..72498611,14	MCF-7	breast:
2	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
3	chr11:72494504..72497467-chr11:73086527..73089033,2	MCF-7	breast:
4	chr11:72493315..72495977-chr2:191745839..191748719,2	MCF-7	breast:
5	chr11:65264649..65267179-chr11:72494245..72496025,2	MCF-7	breast:
6	chr11:72493156..72495189-chr11:72928478..72930668,3	MCF-7	breast:
7	chr11:72490395..72495168-chr11:72521187..72527739,13	MCF-7	breast:
8	chr11:72490152..72495824-chr11:72496679..72500356,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175591	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000115419	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000186635	Chromatin interaction
ENSG00000235852	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2365906	1.00[MKK][hapmap]
rs2365907	1.00[MKK][hapmap]
rs3903492	1.00[MKK][hapmap]
rs493315	1.00[MKK][hapmap]
rs4944017	1.00[MKK][hapmap]
rs4944799	1.00[MKK][hapmap]
rs4944811	1.00[MKK][hapmap]
rs4944812	1.00[MKK][hapmap]
rs4944817	1.00[MKK][hapmap]
rs508532	1.00[MKK][hapmap]
rs640283	1.00[MKK][hapmap]
rs7122570	1.00[MKK][hapmap]
rs7936863	1.00[MKK][hapmap]
rs7937866	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72493200-72495400	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr11:72493400-72495200	Enhancers	K562	blood
3	chr11:72493400-72499200	Weak transcription	Hela-S3	cervix
4	chr11:72493400-72500200	Weak transcription	Osteobl	bone
5	chr11:72493600-72495000	Enhancers	Fetal Brain Male	brain
6	chr11:72493600-72497200	Weak transcription	Fetal Thymus	thymus
7	chr11:72493600-72497400	Weak transcription	Esophagus	oesophagus
8	chr11:72493600-72497600	Weak transcription	Spleen	Spleen
9	chr11:72493600-72499000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:72493600-72499200	Weak transcription	Left Ventricle	heart
11	chr11:72493600-72500400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:72493600-72502400	Enhancers	Stomach Mucosa	stomach
13	chr11:72493800-72497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:72493800-72497000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:72493800-72497000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:72493800-72497000	Weak transcription	Fetal Lung	lung
17	chr11:72493800-72497000	Weak transcription	Lung	lung
18	chr11:72493800-72497200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:72493800-72497200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:72493800-72497400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:72493800-72497600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:72493800-72497600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:72493800-72497600	Weak transcription	Adipose Nuclei	Adipose
24	chr11:72493800-72497800	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:72493800-72498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:72493800-72498400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:72493800-72498800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:72493800-72499000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:72493800-72499400	Weak transcription	Right Ventricle	heart
30	chr11:72493800-72500400	Weak transcription	A549	lung
31	chr11:72493800-72500600	Weak transcription	Brain Substantia Nigra	brain
32	chr11:72493800-72501200	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:72493800-72503200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:72493800-72503600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:72493800-72504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:72493800-72504200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:72494000-72495800	Weak transcription	Gastric	stomach
38	chr11:72494000-72496000	Weak transcription	Placenta	Placenta
39	chr11:72494000-72496600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:72494000-72496800	Weak transcription	Pancreas	Pancrea
41	chr11:72494000-72497600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:72494000-72497800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:72494000-72498000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:72494000-72498200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:72494000-72498600	Enhancers	Fetal Intestine Small	intestine
46	chr11:72494000-72500000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:72494000-72500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:72494000-72500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:72494000-72500400	Weak transcription	Brain Angular Gyrus	brain
50	chr11:72494000-72503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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