Variant report

Variant	rs114715991
Chromosome Location	chr13:111041572-111041573
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:80 , 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	chr13:111039600-111041600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:111039600-111041600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:111039600-111041600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:111039600-111041800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr13:111039600-111042000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:111039800-111042600	Genic enhancers	NH-A	brain
10	chr13:111040000-111041600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr13:111040000-111041600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
12	chr13:111040200-111041600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:111040200-111041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:111040200-111041600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:111040200-111041600	Enhancers	Colonic Mucosa	Colon
16	chr13:111040200-111041600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:111040200-111043000	Enhancers	Right Ventricle	heart
18	chr13:111040200-111043200	Enhancers	Left Ventricle	heart
19	chr13:111040400-111041600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:111040400-111041600	Enhancers	Ovary	ovary
21	chr13:111040400-111041600	Genic enhancers	Right Atrium	heart
22	chr13:111040400-111042600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:111040600-111042000	Enhancers	Fetal Lung	lung
24	chr13:111040600-111045200	Weak transcription	Spleen	Spleen
25	chr13:111040600-111047600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr13:111040800-111041600	Enhancers	Colon Smooth Muscle	Colon
27	chr13:111040800-111041600	Enhancers	Fetal Muscle Leg	muscle
28	chr13:111040800-111042600	Enhancers	NHLF	lung
29	chr13:111040800-111044000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:111040800-111048000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:111040800-111049600	Enhancers	NHDF-Ad	bronchial
32	chr13:111040800-111050800	Weak transcription	Psoas Muscle	Psoas
33	chr13:111040800-111058000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr13:111041000-111041600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
35	chr13:111041000-111041600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr13:111041000-111041600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:111041000-111041600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
38	chr13:111041000-111041600	Enhancers	HMEC	breast
39	chr13:111041000-111041600	Enhancers	NHEK	skin
40	chr13:111041000-111042200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr13:111041000-111042800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr13:111041000-111043000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:111041000-111044600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:111041000-111044800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:111041200-111041600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr13:111041200-111041600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:111041200-111041600	Enhancers	Stomach Mucosa	stomach
48	chr13:111041200-111041600	Flanking Active TSS	HSMMtube	muscle
49	chr13:111041200-111041800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr13:111041200-111042000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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