Variant report

Variant	rs57427719
Chromosome Location	chr11:35241710-35241711
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35241455..35243081-chr11:35243204..35244959,2	MCF-7	breast:
2	chr11:35237824..35241219-chr11:35241266..35244323,3	K562	blood:

Variant related genes	Relation type
ENSG00000026508	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10488811	1.00[AMR][1000 genomes]
rs12280375	1.00[AMR][1000 genomes]
rs16927100	1.00[AMR][1000 genomes]
rs3847610	1.00[AMR][1000 genomes]
rs3847611	1.00[AMR][1000 genomes]
rs61045842	1.00[AMR][1000 genomes]
rs61142335	1.00[AMR][1000 genomes]
rs6484779	1.00[AMR][1000 genomes]
rs6484780	1.00[AMR][1000 genomes]
rs6484782	1.00[AMR][1000 genomes]
rs6484783	1.00[AMR][1000 genomes]
rs7102654	1.00[AMR][1000 genomes]
rs7103913	1.00[AMR][1000 genomes]
rs7114260	1.00[AMR][1000 genomes]
rs7121622	1.00[AMR][1000 genomes]
rs7130549	1.00[AMR][1000 genomes]
rs7131062	1.00[AMR][1000 genomes]
rs724474	1.00[AMR][1000 genomes]
rs73436972	1.00[AMR][1000 genomes]
rs73436976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73439121	1.00[AMR][1000 genomes]
rs73439149	1.00[AMR][1000 genomes]
rs7926777	1.00[AMR][1000 genomes]
rs7926910	1.00[AMR][1000 genomes]
rs7927023	1.00[AMR][1000 genomes]
rs7927263	1.00[AMR][1000 genomes]
rs7934506	1.00[AMR][1000 genomes]
rs7936164	1.00[AMR][1000 genomes]
rs7939095	1.00[AMR][1000 genomes]
rs7939877	1.00[AMR][1000 genomes]
rs7939959	1.00[AMR][1000 genomes]
rs7940317	1.00[AMR][1000 genomes]
rs7945276	1.00[AMR][1000 genomes]
rs7949171	1.00[AMR][1000 genomes]
rs7952042	1.00[AMR][1000 genomes]

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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35200600-35244800	Weak transcription	Fetal Brain Male	brain
2	chr11:35214600-35250600	Weak transcription	Fetal Intestine Large	intestine
3	chr11:35226200-35244800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:35231600-35243600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:35232200-35245400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:35232400-35245600	Genic enhancers	NHDF-Ad	bronchial
7	chr11:35233200-35244400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:35233400-35259600	Weak transcription	Liver	Liver
9	chr11:35234200-35247400	Weak transcription	Fetal Intestine Small	intestine
10	chr11:35235200-35249200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:35235800-35244200	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:35236000-35243000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:35236000-35245200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:35236000-35247600	Strong transcription	Dnd41	blood
15	chr11:35236000-35248000	Strong transcription	Primary hematopoietic stem cells	blood
16	chr11:35236200-35242000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:35236200-35252200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:35236200-35254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:35236400-35241800	Strong transcription	A549	lung
20	chr11:35236400-35242000	Genic enhancers	Fetal Thymus	thymus
21	chr11:35236400-35253400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:35236400-35253400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr11:35236800-35248400	Strong transcription	Adipose Nuclei	Adipose
24	chr11:35236800-35253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:35236800-35259600	Weak transcription	Psoas Muscle	Psoas
26	chr11:35237000-35241800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:35237000-35247000	Strong transcription	Hela-S3	cervix
28	chr11:35237000-35253000	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:35237000-35254600	Strong transcription	HSMM	muscle
30	chr11:35237000-35259600	Weak transcription	HUVEC	blood vessel
31	chr11:35237600-35243600	Strong transcription	Lung	lung
32	chr11:35238200-35250600	Weak transcription	Stomach Mucosa	stomach
33	chr11:35238400-35248000	Weak transcription	Right Ventricle	heart
34	chr11:35238800-35243000	Weak transcription	Gastric	stomach
35	chr11:35238800-35243800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:35238800-35253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:35239200-35243000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:35239200-35245000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:35239200-35247200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:35239200-35248000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:35239200-35248800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:35239200-35249600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:35239200-35253200	Strong transcription	NHEK	skin
44	chr11:35239200-35253600	Strong transcription	HMEC	breast
45	chr11:35239200-35257600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:35239400-35246800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr11:35239400-35246800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr11:35239400-35247200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:35239400-35247200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:35239400-35247800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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