Variant report

Variant	rs558127989
Chromosome Location	chr13:111041013-111041014
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	chr13:111035825..111038178-chr13:111040396..111042030,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111034000-111041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:111038400-111044200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:111038600-111041200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:111039200-111041400	Enhancers	Fetal Thymus	thymus
5	chr13:111039200-111045600	Enhancers	Placenta	Placenta
6	chr13:111039400-111041800	Enhancers	Fetal Stomach	stomach
7	chr13:111039600-111041200	Enhancers	Lung	lung
8	chr13:111039600-111041400	Enhancers	Esophagus	oesophagus
9	chr13:111039600-111041600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:111039600-111041600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:111039600-111041600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:111039600-111041800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr13:111039600-111042000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:111039800-111041400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr13:111039800-111041400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:111039800-111041400	Flanking Active TSS	HSMM	muscle
17	chr13:111039800-111042600	Genic enhancers	NH-A	brain
18	chr13:111040000-111041200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:111040000-111041400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr13:111040000-111041400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:111040000-111041400	Enhancers	Duodenum Mucosa	Duodenum
22	chr13:111040000-111041600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr13:111040000-111041600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr13:111040200-111041200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr13:111040200-111041400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:111040200-111041400	Enhancers	Fetal Kidney	kidney
27	chr13:111040200-111041600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:111040200-111041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:111040200-111041600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:111040200-111041600	Enhancers	Colonic Mucosa	Colon
31	chr13:111040200-111041600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr13:111040200-111043000	Enhancers	Right Ventricle	heart
33	chr13:111040200-111043200	Enhancers	Left Ventricle	heart
34	chr13:111040400-111041200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:111040400-111041200	Weak transcription	HUVEC	blood vessel
36	chr13:111040400-111041400	Genic enhancers	Adipose Nuclei	Adipose
37	chr13:111040400-111041400	Flanking Active TSS	Fetal Heart	heart
38	chr13:111040400-111041600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr13:111040400-111041600	Enhancers	Ovary	ovary
40	chr13:111040400-111041600	Genic enhancers	Right Atrium	heart
41	chr13:111040400-111042600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr13:111040600-111041200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:111040600-111041200	Weak transcription	Aorta	Aorta
44	chr13:111040600-111041200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:111040600-111041200	Weak transcription	Fetal Intestine Large	intestine
46	chr13:111040600-111041200	Enhancers	Rectal Smooth Muscle	rectum
47	chr13:111040600-111041400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:111040600-111041400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:111040600-111042000	Enhancers	Fetal Lung	lung
50	chr13:111040600-111045200	Weak transcription	Spleen	Spleen

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