Variant report

Variant	rs556652230
Chromosome Location	chr11:120246394-120246395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120243305..120247442-chr11:120248031..120252040,4	K562	blood:
2	chr11:120234002..120236611-chr11:120244878..120247433,2	MCF-7	breast:
3	chr11:120206159..120208664-chr11:120245042..120247050,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1050709	chr11:120246224-120276373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120217600-120257000	Weak transcription	HSMM	muscle
2	chr11:120224800-120248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:120225000-120248200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:120225200-120251000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:120226400-120246800	Weak transcription	Small Intestine	intestine
7	chr11:120232000-120274800	Weak transcription	Ovary	ovary
8	chr11:120234600-120250200	Weak transcription	Osteobl	bone
9	chr11:120235000-120247800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:120235600-120252400	Weak transcription	Fetal Lung	lung
11	chr11:120239000-120248000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:120239200-120248000	Weak transcription	Right Ventricle	heart
13	chr11:120239200-120252200	Weak transcription	Psoas Muscle	Psoas
14	chr11:120239200-120253800	Weak transcription	Right Atrium	heart
15	chr11:120239800-120250200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:120241000-120248200	Weak transcription	K562	blood
17	chr11:120242200-120248000	Weak transcription	Left Ventricle	heart
18	chr11:120242600-120248000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:120243000-120248800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:120243000-120249200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:120243400-120246600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:120243400-120247600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:120243600-120246600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:120243600-120249000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:120243800-120249600	Weak transcription	Liver	Liver
26	chr11:120245000-120254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:120245200-120248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:120245200-120251000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:120245400-120246600	Weak transcription	NHLF	lung
30	chr11:120245400-120246800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr11:120245600-120248400	Enhancers	Fetal Heart	heart
32	chr11:120245800-120247800	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:120245800-120248200	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:120246000-120247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:120246000-120248800	Weak transcription	NHDF-Ad	bronchial
36	chr11:120246000-120252800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:120246000-120252800	Weak transcription	A549	lung
38	chr11:120246200-120246600	Weak transcription	Brain Angular Gyrus	brain

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