Variant report

Variant	rs538427087
Chromosome Location	chr11:17300561-17300562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17297082..17301177-chr11:17313853..17317788,6	K562	blood:
2	chr11:17293894..17295404-chr11:17299540..17302043,2	K562	blood:
3	chr11:17298938..17303193-chr11:17304940..17310347,8	K562	blood:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1836937	chr11:17291499-17339127	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1799284	chr11:17299390-17343486	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1799280	chr11:17299390-17354775	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	esv1801731	chr11:17299390-17354775	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17298000-17300800	Active TSS	Primary T cells fromperipheralblood	blood
2	chr11:17298000-17301200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
3	chr11:17298000-17302000	Active TSS	Thymus	Thymus
4	chr11:17299000-17301000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:17299000-17301400	Weak transcription	Pancreas	Pancrea
6	chr11:17299000-17301600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:17299000-17302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:17299000-17307200	Weak transcription	Left Ventricle	heart
9	chr11:17299000-17307400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:17299000-17307600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:17299000-17307600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:17299000-17307600	Weak transcription	Lung	lung
13	chr11:17299000-17316200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:17299000-17320000	Weak transcription	Esophagus	oesophagus
15	chr11:17299000-17323200	Weak transcription	Ovary	ovary
16	chr11:17299000-17323400	Weak transcription	Aorta	Aorta
17	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
20	chr11:17299200-17301400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:17299200-17301400	Weak transcription	Stomach Mucosa	stomach
22	chr11:17299200-17301800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:17299200-17302200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:17299200-17302200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:17299200-17302400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:17299200-17305600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:17299200-17305600	Weak transcription	Fetal Stomach	stomach
28	chr11:17299200-17306000	Weak transcription	Placenta	Placenta
29	chr11:17299200-17307400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:17299200-17307400	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:17299200-17307600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:17299200-17307600	Weak transcription	Psoas Muscle	Psoas
33	chr11:17299200-17307600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:17299200-17307600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:17299200-17310400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:17299200-17317800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:17299200-17317800	Weak transcription	Right Ventricle	heart
38	chr11:17299200-17319800	Weak transcription	Fetal Intestine Small	intestine
39	chr11:17299200-17325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:17299200-17329600	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
42	chr11:17299400-17300600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:17299400-17301000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr11:17299400-17301200	Weak transcription	NHEK	skin
45	chr11:17299400-17301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:17299400-17301600	Enhancers	Fetal Heart	heart
47	chr11:17299400-17301800	Weak transcription	HepG2	liver
48	chr11:17299400-17304400	Weak transcription	Fetal Lung	lung
49	chr11:17299400-17304600	Weak transcription	Adipose Nuclei	Adipose
50	chr11:17299400-17304600	Weak transcription	Colon Smooth Muscle	Colon

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