Variant report

Variant	rs550636266
Chromosome Location	chr11:120230906-120230907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120205280..120207973-chr11:120230843..120232754,2	K562	blood:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120216000-120239000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:120216400-120244800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:120217200-120232000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:120217400-120234000	Weak transcription	Aorta	Aorta
5	chr11:120217600-120257000	Weak transcription	HSMM	muscle
6	chr11:120218600-120231800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:120218600-120232000	Weak transcription	Fetal Stomach	stomach
8	chr11:120218600-120232400	Weak transcription	HUVEC	blood vessel
9	chr11:120220400-120232800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:120220600-120232000	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:120224400-120232200	Weak transcription	Fetal Heart	heart
12	chr11:120224800-120231400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:120224800-120248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:120225000-120248200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:120225200-120231800	Weak transcription	Gastric	stomach
17	chr11:120225200-120233800	Weak transcription	NHEK	skin
18	chr11:120225200-120234400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:120225200-120242200	Weak transcription	A549	lung
20	chr11:120225200-120251000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:120225400-120231800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:120225800-120231800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:120225800-120232000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:120225800-120232200	Weak transcription	Osteobl	bone
25	chr11:120225800-120242200	Weak transcription	Fetal Intestine Small	intestine
26	chr11:120226400-120242400	Weak transcription	Fetal Intestine Large	intestine
27	chr11:120226400-120246800	Weak transcription	Small Intestine	intestine
28	chr11:120227200-120231200	Weak transcription	Ovary	ovary
29	chr11:120228000-120231000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:120228600-120231800	Weak transcription	Lung	lung
31	chr11:120229200-120231000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:120229800-120231800	Weak transcription	Esophagus	oesophagus
33	chr11:120229800-120231800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:120229800-120234000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:120229800-120234600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:120229800-120236600	Weak transcription	GM12878-XiMat	blood
37	chr11:120230000-120231800	Weak transcription	Pancreas	Pancrea
38	chr11:120230000-120231800	Weak transcription	Right Ventricle	heart
39	chr11:120230000-120232200	Weak transcription	K562	blood
40	chr11:120230000-120234400	Weak transcription	Psoas Muscle	Psoas
41	chr11:120230200-120231800	Weak transcription	Left Ventricle	heart
42	chr11:120230400-120231800	Weak transcription	Right Atrium	heart

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