Variant report

Variant	rs554436275
Chromosome Location	chr13:110952442-110952443
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110951727..110953711-chr13:110957949..110960529,2	K562	blood:

Variant related genes	Relation type
ENSG00000134871	Chromatin interaction
ENSG00000187498	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv523051	chr13:110951315-110966349	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv563104	chr13:110951487-110960255	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110936200-110958800	Weak transcription	Gastric	stomach
2	chr13:110937000-110955400	Weak transcription	A549	lung
3	chr13:110940400-110953600	Weak transcription	NHEK	skin
4	chr13:110945600-110955600	Weak transcription	Pancreas	Pancrea
5	chr13:110947400-110952600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:110948200-110952600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:110948200-110954200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:110948600-110954200	Genic enhancers	NH-A	brain
9	chr13:110949000-110952800	Strong transcription	Osteobl	bone
10	chr13:110949400-110954600	Enhancers	Fetal Heart	heart
11	chr13:110949400-110956800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:110950600-110953600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:110950600-110956600	Enhancers	NHDF-Ad	bronchial
14	chr13:110950800-110956200	Genic enhancers	Fetal Muscle Leg	muscle
15	chr13:110951000-110954200	Genic enhancers	Fetal Stomach	stomach
16	chr13:110951000-110956200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:110951400-110952800	Weak transcription	Fetal Kidney	kidney
18	chr13:110951400-110953000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:110951400-110953400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:110951400-110953800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr13:110951400-110954400	Enhancers	Fetal Lung	lung
22	chr13:110951600-110952800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr13:110951600-110953000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr13:110951600-110953800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:110951600-110954600	Enhancers	NHLF	lung
26	chr13:110951600-110957000	Weak transcription	Fetal Intestine Small	intestine
27	chr13:110951600-110957200	Enhancers	Ovary	ovary
28	chr13:110951800-110952600	Weak transcription	Aorta	Aorta
29	chr13:110951800-110952800	Weak transcription	HSMM	muscle
30	chr13:110951800-110953600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:110951800-110953600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:110951800-110954000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:110951800-110954000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:110951800-110954000	Weak transcription	Right Ventricle	heart
35	chr13:110951800-110954000	Weak transcription	Spleen	Spleen
36	chr13:110951800-110954200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:110951800-110954400	Genic enhancers	HUVEC	blood vessel
38	chr13:110951800-110954800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:110951800-110955400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr13:110951800-110956600	Weak transcription	Fetal Intestine Large	intestine
41	chr13:110951800-110957200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr13:110951800-110957200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:110951800-110957400	Weak transcription	Colonic Mucosa	Colon
44	chr13:110951800-110958200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr13:110951800-110958400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr13:110952000-110953400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr13:110952000-110953600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr13:110952000-110953600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr13:110952000-110953600	Weak transcription	Right Atrium	heart
50	chr13:110952000-110953800	Enhancers	Duodenum Smooth Muscle	Duodenum

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