Variant report

Variant	rs530969005
Chromosome Location	chr14:35855611-35855612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35834445..35839728-chr14:35850287..35856081,6	K562	blood:
2	chr14:35853811..35865065-chr14:35868487..35875838,31	K562	blood:
3	chr14:35853630..35855613-chr14:35858688..35861464,2	K562	blood:
4	chr14:35850100..35852410-chr14:35853864..35856080,2	K562	blood:

Variant related genes	Relation type
ENSG00000100906	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	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
2	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv1047010	chr14:35853661-35887823	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv542037	chr14:35853661-35887823	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
5	nsv977456	chr14:35855022-35858707	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35852400-35855800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:35852400-35856200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:35852400-35856200	Enhancers	Fetal Muscle Leg	muscle
4	chr14:35852600-35856400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:35852800-35856200	Enhancers	Adipose Nuclei	Adipose
6	chr14:35852800-35856400	Enhancers	Fetal Heart	heart
7	chr14:35852800-35856600	Enhancers	NHDF-Ad	bronchial
8	chr14:35852800-35857200	Enhancers	Ovary	ovary
9	chr14:35852800-35857600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:35853000-35856000	Enhancers	Right Ventricle	heart
11	chr14:35853200-35856000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:35853200-35856000	Enhancers	HSMMtube	muscle
13	chr14:35853200-35856400	Enhancers	Brain Substantia Nigra	brain
14	chr14:35853400-35856000	Enhancers	Brain Cingulate Gyrus	brain
15	chr14:35853400-35856200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:35853400-35856600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:35853600-35856200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:35853600-35856400	Enhancers	NHEK	skin
19	chr14:35853600-35856600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:35853600-35856600	Enhancers	Fetal Lung	lung
21	chr14:35853800-35856000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr14:35854000-35855800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:35854000-35855800	Enhancers	K562	blood
24	chr14:35854000-35856200	Enhancers	Brain Germinal Matrix	brain
25	chr14:35854400-35856200	Enhancers	Fetal Brain Female	brain
26	chr14:35854400-35856400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:35854800-35856000	Enhancers	A549	lung
28	chr14:35854800-35856200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:35854800-35856600	Enhancers	Rectal Smooth Muscle	rectum
30	chr14:35854800-35859600	Weak transcription	Esophagus	oesophagus
31	chr14:35855000-35859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:35855200-35856000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:35855200-35856000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:35855200-35856200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:35855200-35856400	Enhancers	Colon Smooth Muscle	Colon
36	chr14:35855200-35856400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:35855200-35856600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:35855200-35857000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:35855200-35857400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:35855200-35858200	Weak transcription	Spleen	Spleen
41	chr14:35855200-35859800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:35855200-35859800	Weak transcription	Psoas Muscle	Psoas
43	chr14:35855200-35860000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:35855200-35860000	Weak transcription	Right Atrium	heart
45	chr14:35855200-35863000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:35855200-35865000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:35855200-35865200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr14:35855200-35866600	Weak transcription	Gastric	stomach
49	chr14:35855200-35866800	Weak transcription	Liver	Liver
50	chr14:35855400-35855800	Enhancers	Stomach Smooth Muscle	stomach

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