Variant report

Variant	rs17147347
Chromosome Location	chr11:65885572-65885573
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65879652..65882394-chr11:65882531..65887079,5	K562	blood:
2	chr11:65885486..65887843-chr11:65890510..65893124,3	MCF-7	breast:
3	chr11:65836821..65841267-chr11:65881295..65888359,12	MCF-7	breast:
4	chr11:65847868..65850346-chr11:65885324..65888259,3	MCF-7	breast:
5	chr11:65847681..65850551-chr11:65884444..65887331,2	MCF-7	breast:
6	chr11:65836711..65839156-chr11:65879952..65887031,7	MCF-7	breast:
7	chr11:65882960..65886510-chr11:65888191..65894408,6	K562	blood:
8	chr11:65778443..65780993-chr11:65885172..65889100,3	MCF-7	breast:
9	chr11:65882300..65885934-chr11:65892908..65896262,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255038	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000175115	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10488727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12803276	0.89[LWK][hapmap];0.83[YRI][hapmap]
rs17147321	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17147409	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58107762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58989048	0.91[AFR][1000 genomes]
rs59827057	0.82[AFR][1000 genomes]
rs60379964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591205	0.80[AFR][1000 genomes]
rs72934636	0.80[AFR][1000 genomes]
rs744434	0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7935217	0.91[AFR][1000 genomes]
rs7935315	0.89[AFR][1000 genomes];1.00[AMR][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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65868600-65893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:65868800-65886200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:65875000-65887200	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:65876800-65888400	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:65878200-65885600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:65879200-65886600	Enhancers	Fetal Thymus	thymus
7	chr11:65879400-65889400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:65880000-65885800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:65880000-65885800	Weak transcription	Right Ventricle	heart
10	chr11:65880000-65887000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:65880200-65885800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:65880200-65885800	Weak transcription	Esophagus	oesophagus
13	chr11:65880400-65886400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:65880400-65886400	Enhancers	Hela-S3	cervix
15	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
16	chr11:65880600-65886400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:65880600-65894400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:65881000-65886400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:65881000-65886600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:65881000-65886800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:65881000-65892000	Weak transcription	Brain Anterior Caudate	brain
22	chr11:65881000-65894600	Weak transcription	Gastric	stomach
23	chr11:65881200-65886200	Weak transcription	NHLF	lung
24	chr11:65881200-65886400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:65881200-65886400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:65881400-65888600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:65881600-65885600	Weak transcription	NHDF-Ad	bronchial
28	chr11:65881600-65885800	Weak transcription	HMEC	breast
29	chr11:65881600-65886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:65881600-65886400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:65881600-65886400	Weak transcription	Fetal Brain Male	brain
32	chr11:65881600-65893800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:65883200-65886400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:65883400-65886800	Weak transcription	Fetal Kidney	kidney
35	chr11:65883800-65885600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:65883800-65886400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:65883800-65886400	Weak transcription	HSMMtube	muscle
38	chr11:65883800-65886400	Weak transcription	K562	blood
39	chr11:65883800-65886800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:65883800-65886800	Weak transcription	Adipose Nuclei	Adipose
41	chr11:65883800-65887000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:65883800-65887000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:65883800-65887200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:65883800-65887600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:65883800-65888800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:65883800-65894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:65884000-65886400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:65884000-65886400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:65884000-65886400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:65884000-65886400	Enhancers	A549	lung

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