Variant report

Variant	rs12281651
Chromosome Location	chr11:62275953-62275954
allele	A/C
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62274977..62278202-chr11:62299637..62302170,3	MCF-7	breast:
2	chr11:62274768..62277804-chr11:62311507..62316657,6	MCF-7	breast:
3	chr11:62275811..62278092-chr11:62326912..62329535,2	MCF-7	breast:
4	chr11:62270607..62282151-chr11:62305075..62317987,34	MCF-7	breast:
5	chr11:62274660..62277446-chr11:62443371..62446014,2	MCF-7	breast:
6	chr11:62274477..62276025-chr11:62276651..62278667,2	MCF-7	breast:
7	chr11:62274579..62277992-chr11:62305357..62311305,7	MCF-7	breast:
8	chr11:62274872..62277646-chr11:62281160..62283730,2	K562	blood:
9	chr11:62275860..62278195-chr11:62302595..62304915,2	MCF-7	breast:
10	chr11:62275856..62280048-chr11:62301692..62305667,4	K562	blood:
11	chr11:62274419..62276267-chr11:62285670..62288362,2	K562	blood:
12	chr11:62275374..62276020-chr11:62310227..62310761,2	MCF-7	breast:
13	chr11:62275619..62276391-chr11:62327954..62328806,2	MCF-7	breast:
14	chr11:62264606..62266453-chr11:62274794..62277331,2	MCF-7	breast:
15	chr11:62264881..62265581-chr11:62275675..62276197,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257058	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000250659	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11231110	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11231120	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs11231121	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11231128	0.94[EUR][1000 genomes]
rs11231130	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs11822224	1.00[CEU][hapmap]
rs11827029	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12281588	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12292433	0.94[EUR][1000 genomes]
rs12294680	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17157332	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17157338	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17157363	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17157365	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4124	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs56234858	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61312994	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61625484	0.94[EUR][1000 genomes]
rs7105793	0.81[EUR][1000 genomes]
rs7108380	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123692	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs7124044	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7124130	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs7127582	0.85[EUR][1000 genomes]
rs7937521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7946258	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7951639	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	nsv897621	chr11:62230309-62290170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 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	chr11:62267000-62277400	Enhancers	Fetal Heart	heart
2	chr11:62270800-62281600	Weak transcription	Liver	Liver
3	chr11:62271000-62276200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:62271800-62276000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:62271800-62277200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:62272000-62276400	Enhancers	Left Ventricle	heart
7	chr11:62272000-62277800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:62273200-62276400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:62273200-62277400	Enhancers	Placenta	Placenta
10	chr11:62273400-62276000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:62273400-62280600	Weak transcription	Aorta	Aorta
12	chr11:62273600-62276800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr11:62274200-62276400	Enhancers	Ovary	ovary
14	chr11:62274200-62276600	Enhancers	Fetal Stomach	stomach
15	chr11:62274200-62281200	Weak transcription	Gastric	stomach
16	chr11:62274400-62276200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:62274600-62277000	Enhancers	Fetal Muscle Leg	muscle
18	chr11:62274600-62280600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:62275200-62276200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:62275200-62276600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:62275200-62276600	Enhancers	Brain Cingulate Gyrus	brain
22	chr11:62275200-62277400	Enhancers	Right Atrium	heart
23	chr11:62275400-62276000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:62275400-62276600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:62275400-62276600	Enhancers	Fetal Kidney	kidney
26	chr11:62275600-62276000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:62275600-62276000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:62275600-62276000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:62275600-62276400	Enhancers	Primary B cells from cord blood	blood
30	chr11:62275600-62276400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:62275600-62276400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr11:62275600-62276600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:62275600-62276600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:62275600-62276600	Enhancers	Primary B cells from peripheral blood	blood
35	chr11:62275600-62276600	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr11:62275600-62276600	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr11:62275600-62276600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:62275600-62276600	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr11:62275600-62276600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr11:62275600-62276600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr11:62275600-62276600	Flanking Active TSS	HepG2	liver
42	chr11:62275600-62276600	Flanking Active TSS	HSMMtube	muscle
43	chr11:62275600-62276800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr11:62275600-62276800	Enhancers	Stomach Mucosa	stomach
45	chr11:62275600-62277400	Flanking Active TSS	A549	lung
46	chr11:62275600-62279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:62275800-62276000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:62275800-62276000	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr11:62275800-62276000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:62275800-62276000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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