Variant report

Variant	rs143042756
Chromosome Location	chr13:111041762-111041763
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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111038400-111044200	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:111039200-111045600	Enhancers	Placenta	Placenta
3	chr13:111039400-111041800	Enhancers	Fetal Stomach	stomach
4	chr13:111039600-111041800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr13:111039600-111042000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:111039800-111042600	Genic enhancers	NH-A	brain
7	chr13:111040200-111043000	Enhancers	Right Ventricle	heart
8	chr13:111040200-111043200	Enhancers	Left Ventricle	heart
9	chr13:111040400-111042600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:111040600-111042000	Enhancers	Fetal Lung	lung
11	chr13:111040600-111045200	Weak transcription	Spleen	Spleen
12	chr13:111040600-111047600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr13:111040800-111042600	Enhancers	NHLF	lung
14	chr13:111040800-111044000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:111040800-111048000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:111040800-111049600	Enhancers	NHDF-Ad	bronchial
17	chr13:111040800-111050800	Weak transcription	Psoas Muscle	Psoas
18	chr13:111040800-111058000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr13:111041000-111042200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr13:111041000-111042800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr13:111041000-111043000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:111041000-111044600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:111041000-111044800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:111041200-111041800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr13:111041200-111042000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:111041200-111042200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:111041200-111042200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr13:111041200-111042600	Strong transcription	HUVEC	blood vessel
29	chr13:111041200-111044000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr13:111041200-111044200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:111041200-111045000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr13:111041200-111045400	Genic enhancers	Osteobl	bone
33	chr13:111041200-111048000	Enhancers	Aorta	Aorta
34	chr13:111041400-111041800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:111041400-111041800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:111041400-111041800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:111041400-111042000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:111041400-111042000	Genic enhancers	Stomach Smooth Muscle	stomach
39	chr13:111041400-111042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:111041400-111043000	Strong transcription	Adipose Nuclei	Adipose
41	chr13:111041400-111043000	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr13:111041400-111043000	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr13:111041400-111044600	Enhancers	Fetal Heart	heart
44	chr13:111041400-111045000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr13:111041400-111045000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:111041400-111045000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:111041400-111048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:111041400-111048600	Weak transcription	Esophagus	oesophagus
49	chr13:111041400-111058000	Weak transcription	Fetal Intestine Large	intestine
50	chr13:111041600-111041800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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