Variant report

Variant	rs11227393
Chromosome Location	chr11:65825470-65825471
allele	A/G
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	chr11:65825385-65825965	K562	blood:	n/a	n/a
2	POLR2A	chr11:65825461-65825822	K562	blood:	n/a	n/a
3	POLR2A	chr11:65825399-65826349	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:65825417-65825931	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65815755..65817643-chr11:65824543..65827517,2	MCF-7	breast:
2	chr11:65656060..65659299-chr11:65825283..65827500,3	K562	blood:
3	chr11:65656005..65658506-chr11:65823963..65825663,2	MCF-7	breast:
4	chr11:65625214..65627080-chr11:65825181..65826865,2	MCF-7	breast:

Variant related genes	Relation type
SF3B2	TF binding region
ENSG00000175602	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172757	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11227396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576868	1.00[EUR][1000 genomes]
rs12577589	1.00[EUR][1000 genomes]
rs2241304	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2298446	1.00[EUR][1000 genomes]
rs35188698	1.00[EUR][1000 genomes]
rs3814743	1.00[EUR][1000 genomes]
rs4930169	1.00[EUR][1000 genomes]
rs58244723	1.00[EUR][1000 genomes]
rs9787882	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	esv3330622	chr11:65825469-65825792	Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65820800-65827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65821000-65835600	Weak transcription	Right Atrium	heart
3	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:65821200-65828200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:65821200-65829000	Weak transcription	Fetal Heart	heart
7	chr11:65821200-65832000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:65821200-65832200	Strong transcription	Fetal Muscle Leg	muscle
9	chr11:65821200-65835400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:65821200-65835600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:65821200-65836000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:65821200-65836000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:65821200-65836000	Strong transcription	Fetal Intestine Large	intestine
14	chr11:65821200-65836000	Strong transcription	NHLF	lung
15	chr11:65821200-65836200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:65821200-65836600	Strong transcription	Fetal Stomach	stomach
17	chr11:65821400-65825600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:65821400-65826200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr11:65821400-65826400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:65821400-65827800	Weak transcription	Fetal Brain Male	brain
21	chr11:65821400-65830400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:65821400-65831400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:65821400-65831800	Strong transcription	Fetal Intestine Small	intestine
24	chr11:65821400-65831800	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:65821400-65833800	Strong transcription	Placenta	Placenta
26	chr11:65821400-65835200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:65821400-65835200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:65821400-65835400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr11:65821400-65835600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:65821400-65835600	Strong transcription	Brain Germinal Matrix	brain
31	chr11:65821400-65835800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:65821400-65836600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:65821600-65829200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:65821600-65835400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:65821600-65835400	Strong transcription	Fetal Thymus	thymus
36	chr11:65821600-65836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:65821800-65831800	Strong transcription	Lung	lung
38	chr11:65821800-65832000	Strong transcription	Brain Cingulate Gyrus	brain
39	chr11:65821800-65832800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:65821800-65833600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:65821800-65833800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:65821800-65835400	Strong transcription	Spleen	Spleen
43	chr11:65821800-65835800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:65821800-65835800	Strong transcription	K562	blood
45	chr11:65821800-65836000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr11:65821800-65836000	Strong transcription	Primary T cells from cord blood	blood
47	chr11:65821800-65836600	Strong transcription	Thymus	Thymus
48	chr11:65822000-65827200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:65822000-65831600	Strong transcription	Esophagus	oesophagus
50	chr11:65822000-65831600	Strong transcription	Right Ventricle	heart

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